Veröffentlichungen

2019

Alame, Saada; El-Houwayek, Eliane; Nava, Caroline; Sabbagh, Sandra; Fawaz, Ali; Gillart, Anne-Celine; Hasbini, Dana; Depienne, Christel; Mégarbané, André (2019)
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
Case reports in medicine 2019, S. 5270503. https://doi.org/10.1155/2019/5270503.

Baaijens, Jasmijn A.; van der Roest, Bastiaan; Köster, Johannes; Stougie, Leen; Schönhuth, Alexander (2019)
Full-length de novo viral quasispecies assembly through variation graph construction
Bioinformatics (Oxford, England) 35 (24), S. 5086–5094. https://doi.org/10.1093/bioinformatics/btz443.

Beygo, Jasmin; Buiting, Karin; Ramsden, Simon C.; Ellis, Rachael; Clayton-Smith, Jill; Kanber, Deniz (2019)
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
European journal of human genetics : EJHG 27 (9), S. 1326–1340. https://doi.org/10.1038/s41431-019-0435-0.

Beygo, Jasmin; Bürger, Joachim; Strom, Tim M.; Kaya, Sabine; Buiting, Karin (2019)
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
European journal of human genetics : EJHG 27 (6), S. 903–908. https://doi.org/10.1038/s41431-019-0365-x.

Bock, Christina; Zimmermann, Sonja; Beisser, Daniela; Dinglinger, Sarah-Maria; Engelskirchen, Simone; Giesemann, Philipp; Klink, Saskia; Olefeld, Jana Laura; Rahmann, Sven; Vos, Matthijs; Boenigk, Jens; Sures, Bernd (2019)
Silver stress differentially affects growth of phototrophic and heterotrophic chrysomonad flagellate populations
Environmental pollution (Barking, Essex : 1987) 244, S. 314–322. https://doi.org/10.1016/j.envpol.2018.09.146.

Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H. F.; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei Adariani, Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Cuturilo, Goran; Kazemein Jasemi, Neda S.; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin (2019)
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
American journal of human genetics 104 (6), S. 1223–1232. https://doi.org/10.1016/j.ajhg.2019.04.013.

Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L.; Blatt, Ilan; Iacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; LeGuern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W.; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki; Tsuji, Shoji; Sisodiya, Sanjay M.; Casari, Giorgio; Sadleir, Lynette G.; van Coller, Riaan; Tijssen, Marina A. J.; Klein, Karl Martin; van den Maagdenberg, Arn M. J. M.; Zara, Federico; Guerrini, Renzo; Berkovic, Samuel F.; Pippucci, Tommaso; Canafoglia, Laura; Bahlo, Melanie; Striano, Pasquale; Scheffer, Ingrid E.; Brancati, Francesco; Depienne, Christel; Gecz, Jozef (2019)
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Nature communications 10 (1), S. 4920. https://doi.org/10.1038/s41467-019-12671-y.

Cross-Disorder Group of the Psychiatric Genomics Consortium. (2019)
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders
Cell 179 (7), 1469-1482.e11. https://doi.org/10.1016/j.cell.2019.11.020.

Depienne, Christel; Ciura, Sorana; Trouillard, Oriane; Bouteiller, Delphine; Leitão, Elsa; Nava, Caroline; Keren, Boris; Marie, Yannick; Guegan, Justine; Forlani, Sylvie; Brice, Alexis; Anheim, Mathieu; Agid, Yves; Krack, Paul; Damier, Philippe; Viallet, François; Houeto, Jean-Luc; Durif, Franck; Vidailhet, Marie; Worbe, Yulia; Roze, Emmanuel; Kabashi, Edor; Hartmann, Andreas (2019)
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome
Tremor and other hyperkinetic movements (New York, N.Y.) 9. https://doi.org/10.7916/tohm.v0.693.

Ebert, David Daniel; Mortier, Philippe; Kaehlke, Fanny; Bruffaerts, Ronny; Baumeister, Harald; Auerbach, Randy P.; Alonso, Jordi; Vilagut, Gemma; Martínez, Kalina I.; Lochner, Christine; Cuijpers, Pim; Kuechler, Ann-Marie; Green, Jennifer; Hasking, Penelope; Lapsley, Coral; Sampson, Nancy A.; Kessler, Ronald C. (2019)
Barriers of mental health treatment utilization among first-year college students: First cross-national results from the WHO World Mental Health International College Student Initiative
International journal of methods in psychiatric research 28 (2), e1782. https://doi.org/10.1002/mpr.1782.

Florian, Rahel T.; Kraft, Florian; Leitão, Elsa; Kaya, Sabine; Klebe, Stephan; Magnin, Eloi; van Rootselaar, Anne-Fleur; Buratti, Julien; Kühnel, Theresa; Schröder, Christopher; Giesselmann, Sebastian; Tschernoster, Nikolai; Altmueller, Janine; Lamiral, Anaide; Keren, Boris; Nava, Caroline; Bouteiller, Delphine; Forlani, Sylvie; Jornea, Ludmila; Kubica, Regina; Ye, Tao; Plassard, Damien; Jost, Bernard; Meyer, Vincent; Deleuze, Jean-François; Delpu, Yannick; Avarello, Mario D. M.; Vijfhuizen, Lisanne S.; Rudolf, Gabrielle; Hirsch, Edouard; Kroes, Thessa; Reif, Philipp S.; Rosenow, Felix; Ganos, Christos; Vidailhet, Marie; Thivard, Lionel; Mathieu, Alexandre; Bourgeron, Thomas; Kurth, Ingo; Rafehi, Haloom; Steenpass, Laura; Horsthemke, Bernhard; LeGuern, Eric; Klein, Karl Martin; Labauge, Pierre; Bennett, Mark F.; Bahlo, Melanie; Gecz, Jozef; Corbett, Mark A.; Tijssen, Marina A. J.; van den Maagdenberg, Arn M. J. M.; Depienne, Christel (2019)
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Nature communications 10 (1), S. 4919. https://doi.org/10.1038/s41467-019-12763-9.

Hiatt, Susan M.; Thompson, Michelle L.; Prokop, Jeremy W.; Lawlor, James M. J.; Gray, David E.; Bebin, E. Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W.; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M.; McWalter, Kirsty; Cooper, Gregory M. (2019)
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
American journal of human genetics 104 (4), S. 701–708. https://doi.org/10.1016/j.ajhg.2019.02.002.

Hofer, Silvia; Diebold, Joachim; Temming, Petra; Lohmann, Dietmar; Howell, Jeremy; Moulin, Alexandre; Beck-Popovic, Maja; Sahm, Felix; Milde, Till; Ecker, Jonas (2019)
Retinoblastoma with late metastatic spread-a case report
Pediatric blood & cancer 66 (6), e27656. https://doi.org/10.1002/pbc.27656.

Jünger, Stephanie T.; Mynarek, Martin; Wohlers, Inken; Dörner, Evelyn; Zur Mühlen, Anja; Velez-Char, Natalia; Hoff, Katja von; Rutkowski, Stefan; Warmuth-Metz, Monika; Kortmann, Rolf-Dieter; Timmermann, Beate; Rahmann, Sven; Klein-Hitpass, Ludger; Bueren, Andre O. von; Pietsch, Torsten (2019)
Improved risk-stratification for posterior fossa ependymoma of childhood considering clinical, histological and genetic features – a retrospective analysis of the HIT ependymoma trial cohort
Acta neuropathologica communications 7 (1), S. 181. https://doi.org/10.1186/s40478-019-0820-5.

Kalmbach, Alexander; Schröder, Christopher; Klein-Hitpass, Ludger; Nordström, Karl; Ulz, Peter; Heitzer, Ellen; Speicher, Michael R.; Rahmann, Sven; Wieczorek, Dagmar; Horsthemke, Bernhard; Bramswig, Nuria C. (2019)
Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome
Cytogenetic and genome research 159 (1), S. 1–11. https://doi.org/10.1159/000503266.

Köster, Johannes; Brown, Myles; Liu, X. Shirley (2019)
A Bayesian model for single cell transcript expression analysis on MERFISH data
Bioinformatics (Oxford, England) 35 (6), S. 995–1001. https://doi.org/10.1093/bioinformatics/bty718.

Le Guin, Claudia Helga Dorothee; Metz, Klaus Alfred; Lehmann, Nils; Kreis, Stefan Horst; Bornfeld, Norbert; Rudolf Lohmann, Dietmar; Zeschnigk, Michael (2019)
Chromosome 3 is a valid marker for prognostic testing of biopsy material from uveal melanoma later treated by brachytherapy
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 24 (2), S. 134–140. https://doi.org/10.1080/1354750X.2018.1517827.

Le Guin, Claudia Helga Dorothee; Metz, Klaus Alfred; Kreis, Stefan Horst; Bechrakis, Nikolaos Emmanouel; Bornfeld, Norbert; Zeschnigk, Michael; Lohmann, Dietmar Rudolf (2019)
GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal Hemangioma
Cancers 11 (7). https://doi.org/10.3390/cancers11071031.

Maljevic, Snezana; Keren, Boris; Aung, Ye Htet; Forster, Ian C.; Mignot, Cyril; Buratti, Julien; Lafitte, Aurélie; Freihuber, Cécile; Rodan, Lance H.; Bergin, Ann; Hubert, Laurence; Poirier, Karine; Munnich, Arnold; Besmond, Claude; Hauser, Natalie; Miller, Rebecca; McWalter, Kirsty; Nabbout, Rima; Héron, Delphine; LeGuern, Eric; Depienne, Christel; Petrou, Steven; Nava, Caroline (2019)
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
Brain : a journal of neurology 142 (5), e15. https://doi.org/10.1093/brain/awz079.

Menges, Julia; Cremanns, Martina; Steenpass, Laura (2019)
Generation of two H1 hESC sublines carrying deletions of RB1 exon 1/promoter in heterozygous or compound heterozygous state
Stem cell research 39, S. 101517. https://doi.org/10.1016/j.scr.2019.101517.

Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel (2019)
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Genetics in medicine : official journal of the American College of Medical Genetics 21 (8), S. 1897–1898. https://doi.org/10.1038/s41436-018-0327-7.

Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel (2019)
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Genetics in medicine : official journal of the American College of Medical Genetics 21 (4), S. 837–849. https://doi.org/10.1038/s41436-018-0268-1.

Munier, Francis L.; Beck-Popovic, Maja; Chantada, Guillermo L.; Cobrinik, David; Kivelä, Tero T.; Lohmann, Dietmar; Maeder, Philippe; Moll, Annette C.; Carcaboso, Angel Montero; Moulin, Alexandre; Schaiquevich, Paula; Bergin, Ciara; Dyson, Paul J.; Houghton, Susan; Puccinelli, Francesco; Vial, Yvan; Gaillard, Marie-Claire; Stathopoulos, Christina (2019)
Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. „Alive, with good vision and no comorbidity“
Progress in retinal and eye research 73, S. 100764. https://doi.org/10.1016/j.preteyeres.2019.05.005.

Munteanu, Martin; Kiewert, Cordula; Matar, Nora; Hauffa, Berthold P.; Unger, Nicole; Hiort, Olaf; Thiele, Susanne; Buiting, Karin; Bramswig, Nuria C.; Grasemann, Corinna (2019)
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A
Journal of the Endocrine Society 3 (7), S. 1383–1389. https://doi.org/10.1210/js.2019-00073.

Niazi, Rojeen; Fanning, Elizabeth A.; Depienne, Christel; Sarmady, Mahdi; Abou Tayoun, Ahmad N. (2019)
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern
Human mutation 40 (3), S. 243–257. https://doi.org/10.1002/humu.23701.

Nienen, Mikalai; Stervbo, Ulrik; Mölder, Felix; Kaliszczyk, Sviatlana; Kuchenbecker, Leon; Gayova, Ludmila; Schweiger, Brunhilde; Jürchott, Karsten; Hecht, Jochen; Neumann, Avidan U.; Rahmann, Sven; Westhoff, Timm; Reinke, Petra; Thiel, Andreas; Babel, Nina (2019)
The Role of Pre-existing Cross-Reactive Central Memory CD4 T-Cells in Vaccination With Previously Unseen Influenza Strains
Frontiers in immunology 10, S. 593. https://doi.org/10.3389/fimmu.2019.00593.

Nixon, Kevin C. J.; Rousseau, Justine; Stone, Max H.; Sarikahya, Mohammed; Ehresmann, Sophie; Mizuno, Seiji; Matsumoto, Naomichi; Miyake, Noriko; Baralle, Diana; McKee, Shane; Izumi, Kosuke; Ritter, Alyssa L.; Heide, Solveig; Héron, Delphine; Depienne, Christel; Titheradge, Hannah; Kramer, Jamie M.; Campeau, Philippe M. (2019)
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
American journal of human genetics 104 (4), S. 596–610. https://doi.org/10.1016/j.ajhg.2019.02.001.

Piaggio, Francesca; Tozzo, Veronica; Bernardi, Cinzia; Croce, Michela; Puzone, Roberto; Viaggi, Silvia; Patrone, Serena; Barla, Annalisa; Coviello, Domenico; Jager, Martine J.; van der Velden, Pieter A.; Zeschnigk, Michael; Cangelosi, Davide; Eva, Alessandra; Pfeffer, Ulrich; Amaro, Adriana (2019)
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma
Cancers 11 (11). https://doi.org/10.3390/cancers11111688.

Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; Munnik, Sonja A. de; Bongers, Ernie M. H. F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M. P. C. D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Scott Schwoerer, Jessica; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M. H.; Brimble, Elise; Ruzhnikov, Maura R. Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; Vries, Bert B. A. de; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E. L. M. (2019)
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American journal of human genetics 104 (1), S. 139–156. https://doi.org/10.1016/j.ajhg.2018.12.002.

Römer, Tristan; Temming, Petra; Lohmann, Dietmar R.; Sturm, Dominik; Deimling, Andreas von; Sellhaus, Bernd; Mull, Michael; Kontny, Udo; Moser, Olga (2019)
Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability
Pediatric blood & cancer 66 (5), e27599. https://doi.org/10.1002/pbc.27599.

Schwermer, M.; Hiber, M.; Dreesmann, S.; Rieb, A.; Theißen, J.; Herold, T.; Schramm, A.; Temming, P.; Steenpass, L. (2019)
Comprehensive characterization of RB1 mutant and MYCN amplified retinoblastoma cell lines
Experimental cell research 375 (2), S. 92–99. https://doi.org/10.1016/j.yexcr.2018.12.018.

Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Kuechler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann-Josef; Guida, Valentina; Krumbiegel, Mandy; Lonardo, Fortunato; Novelli, Antonio; Albrecht, Beate; Perria, Chiara; Scarano, Gioacchino; Spielmann, Malte; Nardone, Annamaria M.; Battaglia, Agatino; Brancati, Francesco; Bernardini, Laura (2019)
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes
Clinical genetics 96 (3), S. 246–253. https://doi.org/10.1111/cge.13565.

Theurer, S.; Biewald, E.; Kuchelmeister, K.; Temming, P.; Kuechler, A.; Oeffner, F.; Bornfeld, N.; Sirin, S.; Schmid, K. W.; Metz, K. (2019)
Primäres Meningeom des Nervus opticus im Säuglingsalter als Erstmanifestation einer Neurofibromatose Typ 2.
Der Pathologe 40 (2), S. 179–184. https://doi.org/10.1007/s00292-018-0464-4.

van der Knaap, Marjo S.; Bugiani, Marianna; Mendes, Marisa I.; Riley, Lisa G.; Smith, Desiree E. C.; Rudinger-Thirion, Joëlle; Frugier, Magali; Breur, Marjolein; Crawford, Joanna; van Gaalen, Judith; Schouten, Meyke; Willems, Marjolaine; Waisfisz, Quinten; Mau-Them, Frederic Tran; Rodenburg, Richard J.; Taft, Ryan J.; Keren, Boris; Christodoulou, John; Depienne, Christel; Simons, Cas; Salomons, Gajja S.; Mochel, Fanny (2019)
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
Neurology 92 (11), e1225-e1237. https://doi.org/10.1212/WNL.0000000000007098.

Wiesweg, Marcel; Kasper, Stefan; Worm, Karl; Herold, Thomas; Reis, Henning; Sara, Linda; Metzenmacher, Martin; Abendroth, Annalena; Darwiche, Kaid; Aigner, Clemens; Wedemeyer, Heiner H.; Helfritz, Fabian A.; Stuschke, Martin; Schumacher, Brigitte; Markus, Peter; Paul, Andreas; Rahmann, Sven; Schmid, Kurt W.; Schuler, Martin (2019)
Impact of RAS mutation subtype on clinical outcome-a cross-entity comparison of patients with advanced non-small cell lung cancer and colorectal cancer
Oncogene 38 (16), S. 2953–2966. https://doi.org/10.1038/s41388-018-0634-0.

Wiesweg, M.; Mairinger, F.; Reis, H.; Goetz, M.; Walter, R. F. H.; Hager, T.; Metzenmacher, M.; Eberhardt, W. E. E.; McCutcheon, A.; Köster, J.; Stuschke, M.; Aigner, C.; Darwiche, K.; Schmid, K. W.; Rahmann, S.; Schuler, M. (2019)
Machine learning-based predictors for immune checkpoint inhibitor therapy of non-small-cell lung cancer
Annals of oncology : official journal of the European Society for Medical Oncology 30 (4), S. 655–657. https://doi.org/10.1093/annonc/mdz049.

Yu, Dongmei; Sul, Jae Hoon; Tsetsos, Fotis; Nawaz, Muhammad S.; Huang, Alden Y.; Zelaya, Ivette; Illmann, Cornelia; Osiecki, Lisa; Darrow, Sabrina M.; Hirschtritt, Matthew E.; Greenberg, Erica; Muller-Vahl, Kirsten R.; Stuhrmann, Manfred; Dion, Yves; Rouleau, Guy; Aschauer, Harald; Stamenkovic, Mara; Schlögelhofer, Monika; Sandor, Paul; Barr, Cathy L.; Grados, Marco; Singer, Harvey S.; Nöthen, Markus M.; Hebebrand, Johannes; Hinney, Anke; King, Robert A.; Fernandez, Thomas V.; Barta, Csaba; Tarnok, Zsanett; Nagy, Peter; Depienne, Christel; Worbe, Yulia; Hartmann, Andreas; Budman, Cathy L.; Rizzo, Renata; Lyon, Gholson J.; McMahon, William M.; Batterson, James R.; Cath, Danielle C.; Malaty, Irene A.; Okun, Michael S.; Berlin, Cheston; Woods, Douglas W.; Lee, Paul C.; Jankovic, Joseph; Robertson, Mary M.; Gilbert, Donald L.; Brown, Lawrence W.; Coffey, Barbara J.; Dietrich, Andrea; Hoekstra, Pieter J.; Kuperman, Samuel; Zinner, Samuel H.; Luðvigsson, Pétur; Sæmundsen, Evald; Thorarensen, Ólafur; Atzmon, Gil; Barzilai, Nir; Wagner, Michael; Moessner, Rainald; Ophoff, Roel; Pato, Carlos N.; Pato, Michele T.; Knowles, James A.; Roffman, Joshua L.; Smoller, Jordan W.; Buckner, Randy L.; Willsey, A. Jeremy; Tischfield, Jay A.; Heiman, Gary A.; Stefansson, Hreinn; Stefansson, Kári; Posthuma, Danielle; Cox, Nancy J.; Pauls, David L.; Freimer, Nelson B.; Neale, Benjamin M.; Davis, Lea K.; Paschou, Peristera; Coppola, Giovanni; Mathews, Carol A.; Scharf, Jeremiah M. (2019)
Interrogating the Genetic Determinants of Tourette‘s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies
The American journal of psychiatry 176 (3), S. 217–227. https://doi.org/10.1176/appi.ajp.2018.18070857.

Zeschnigk, Michael; Horsthemke, Bernhard (2019)
Next-Generation-Sequencing in der Epigenetik
medgen 31 (2), S. 205–211. https://doi.org/10.1007/s11825-019-0245-3.

2018

Ackermann, Sandra; Cartolano, Maria; Hero, Barbara; Welte, Anne; Kahlert, Yvonne; Roderwieser, Andrea; Bartenhagen, Christoph; Walter, Esther; Gecht, Judith; Kerschke, Laura; Volland, Ruth; Menon, Roopika; Heuckmann, Johannes M.; Gartlgruber, Moritz; Hartlieb, Sabine; Henrich, Kai-Oliver; Okonechnikov, Konstantin; Altmüller, Janine; Nürnberg, Peter; Lefever, Steve; Wilde, Bram de; Sand, Frederik; Ikram, Fakhera; Rosswog, Carolina; Fischer, Janina; Theissen, Jessica; Hertwig, Falk; Singhi, Aatur D.; Simon, Thorsten; Vogel, Wenzel; Perner, Sven; Krug, Barbara; Schmidt, Matthias; Rahmann, Sven; Achter, Viktor; Lang, Ulrich; Vokuhl, Christian; Ortmann, Monika; Büttner, Reinhard; Eggert, Angelika; Speleman, Frank; O‘Sullivan, Roderick J.; Thomas, Roman K.; Berthold, Frank; Vandesompele, Jo; Schramm, Alexander; Westermann, Frank; Schulte, Johannes H.; Peifer, Martin; Fischer, Matthias (2018)
A mechanistic classification of clinical phenotypes in neuroblastoma
Science (New York, N.Y.) 362 (6419), S. 1165–1170. https://doi.org/10.1126/science.aat6768.

Ács, Orsolya Dóra; Péterfia, Bálint; Hollósi, Péter; Haltrich, Irén; Sallai, Ágnes; Luczay, Andrea; Buiting, Karin; Horsthemke, Bernhard; Török, Dóra; Szabó, András; Fekete, György (2018)
Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására
Orvosi hetilap 159 (2), S. 64–69. https://doi.org/10.1556/650.2018.30918.

Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J.; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A.; Ripke, Stephan; Wei, Zhi; Yu, Dongmei; Lee, Phil H.; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; Letenneur, Luc; Hannequin, Didier; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Duron, Emmanuelle; Vardarajan, Badri N.; Reitz, Christiane; Goate, Alison M.; Huentelman, Matthew J.; Kamboh, M. Ilyas; Larson, Eric B.; Rogaeva, Ekaterina; St George-Hyslop, Peter; Hakonarson, Hakon; Kukull, Walter A.; Farrer, Lindsay A.; Barnes, Lisa L.; Beach, Thomas G.; Demirci, F. Yesim; Head, Elizabeth; Hulette, Christine M.; Jicha, Gregory A.; Kauwe, John S. 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H.; Lehtimäki, Terho; Wedenoja, Juho; Buring, Julie E.; Schürks, Markus; Hrafnsdottir, Maria; Hottenga, Jouke-Jan; Penninx, Brenda; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Martin, Nicholas G.; Montgomery, Grant W.; Kurki, Mitja I.; Hämäläinen, Eija; Huang, Hailiang; Huang, Jie; Sandor, Cynthia; Webber, Caleb; Muller-Myhsok, Bertram; Schreiber, Stefan; Salomaa, Veikko; Loehrer, Elizabeth; Göbel, Hartmut; Macaya, Alfons; Pozo-Rosich, Patricia; Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Metspalu, Andres; Kubisch, Christian; Ferrari, Michel D.; Belin, Andrea C.; van den Maagdenberg, Arn M. J. 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Analysis of shared heritability in common disorders of the brain
Science (New York, N.Y.) 360 (6395). https://doi.org/10.1126/science.aap8757.

Begemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; González Fassrainer, Daniela; Oehl-Jaschkowitz, Barbara; Turner, Claire L. S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Bich Ngoc, Can Thi; Chi Dung, Vu; Mehta, Sarju G.; Baynam, Gareth; Hamilton-Shield, Julian P.; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J. G. (2018)
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Beygo, Jasmin; Mertel, Claudia; Kaya, Sabine; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas; Horsthemke, Bernhard; Buiting, Karin (2018)
The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders
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Bornfeld, Norbert; Biewald, Eva; Bauer, Sebastian; Temming, Petra; Lohmann, Dietmar; Zeschnigk, Michael (2018)
The Interdisciplinary Diagnosis and Treatment of Intraocular Tumors
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Bramswig, Nuria C.; Bertoli-Avella, Aida M.; Albrecht, Beate; Al Aqeel, Aida I.; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Bröhl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M.; Gorokhova, Svetlana; Héron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Kuechler, Alma; Ismail, Samira; Issa, Mahmoud Y.; Marey, Isabelle; Mayer, Michèle; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M.; Zaki, Maha S.; Gleeson, Joseph G.; Lüdecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar (2018)
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
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Bramswig, Nuria C.; Buiting, Karin; Bechtel, Natalie; Horsthemke, Bernhard; Rostasy, Kevin; Wieczorek, Dagmar (2018)
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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
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Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.-L.; Guët, A.; Xavier, J.; Périsse, D.; Cohen, D.; Demurger, F.; Quélin, C.; Depienne, C.; Odent, S.; Nava, C.; David, V.; Pasquier, L.; Mignot, C. (2018)
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Author Correction: The landscape of genomic alterations across childhood cancers
Nature 559 (7714), E10. https://doi.org/10.1038/s41586-018-0167-2.

Gröbner, Susanne N.; Worst, Barbara C.; Weischenfeldt, Joachim; Buchhalter, Ivo; Kleinheinz, Kortine; Rudneva, Vasilisa A.; Johann, Pascal D.; Balasubramanian, Gnana Prakash; Segura-Wang, Maia; Brabetz, Sebastian; Bender, Sebastian; Hutter, Barbara; Sturm, Dominik; Pfaff, Elke; Hübschmann, Daniel; Zipprich, Gideon; Heinold, Michael; Eils, Jürgen; Lawerenz, Christian; Erkek, Serap; Lambo, Sander; Waszak, Sebastian; Blattmann, Claudia; Borkhardt, Arndt; Kuhlen, Michaela; Eggert, Angelika; Fulda, Simone; Gessler, Manfred; Wegert, Jenny; Kappler, Roland; Baumhoer, Daniel; Burdach, Stefan; Kirschner-Schwabe, Renate; Kontny, Udo; Kulozik, Andreas E.; Lohmann, Dietmar; Hettmer, Simone; Eckert, Cornelia; Bielack, Stefan; Nathrath, Michaela; Niemeyer, Charlotte; Richter, Günther H.; Schulte, Johannes; Siebert, Reiner; Westermann, Frank; Molenaar, Jan J.; Vassal, Gilles; Witt, Hendrik; Burkhardt, Birgit; Kratz, Christian P.; Witt, Olaf; van Tilburg, Cornelis M.; Kramm, Christof M.; Fleischhack, Gudrun; Dirksen, Uta; Rutkowski, Stefan; Frühwald, Michael; Hoff, Katja von; Wolf, Stephan; Klingebiel, Thomas; Koscielniak, Ewa; Landgraf, Pablo; Koster, Jan; Resnick, Adam C.; Zhang, Jinghui; Liu, Yanling; Zhou, Xin; Waanders, Angela J.; Zwijnenburg, Danny A.; Raman, Pichai; Brors, Benedikt; Weber, Ursula D.; Northcott, Paul A.; Pajtler, Kristian W.; Kool, Marcel; Piro, Rosario M.; Korbel, Jan O.; Schlesner, Matthias; Eils, Roland; Jones, David T. W.; Lichter, Peter; Chavez, Lukas; Zapatka, Marc; Pfister, Stefan M. (2018)
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Nature 555 (7696), S. 321–327. https://doi.org/10.1038/nature25480.

Groden, Joanna; Passarge, Eberhard (2018)
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Grüning, Björn; Chilton, John; Köster, Johannes; Dale, Ryan; Soranzo, Nicola; van den Beek, Marius; Goecks, Jeremy; Backofen, Rolf; Nekrutenko, Anton; Taylor, James (2018)
Practical Computational Reproducibility in the Life Sciences
Cell systems 6 (6), S. 631–635. https://doi.org/10.1016/j.cels.2018.03.014.

Grüning, Björn; Dale, Ryan; Sjödin, Andreas; Chapman, Brad A.; Rowe, Jillian; Tomkins-Tinch, Christopher H.; Valieris, Renan; Köster, Johannes (2018)
Bioconda: sustainable and comprehensive software distribution for the life sciences
Nature methods 15 (7), S. 475–476. https://doi.org/10.1038/s41592-018-0046-7.

Horsthemke, Bernhard (2018)
A critical view on transgenerational epigenetic inheritance in humans
Nature communications 9 (1), S. 186. https://doi.org/10.1038/s41467-018-05445-5.

Johnston, Jennifer J.; van der Smagt, Jasper J.; Rosenfeld, Jill A.; Pagnamenta, Alistair T.; Alswaid, Abdulrahman; Baker, Eva H.; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B.; van Gassen, Koen L.; Gulsuner, Suleyman; Harr, Margaret H.; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A.; McDonald-McGinn, Donna M.; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R.; Rogers, R. Curtis; Sagi-Dain, Lena; Sapp, Julie C.; Schäffer, Alejandro A.; Schanze, Denny; Stewart, Helen; Taylor, Jenny C.; Verbeek, Nienke E.; Walkiewicz, Magdalena A.; Zackai, Elaine H.; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G. (2018)
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Genetics in medicine : official journal of the American College of Medical Genetics 20 (10), S. 1175–1185. https://doi.org/10.1038/gim.2017.249.

Köninger, Angela; Kampmeier, Antje; Mach, Pawel; Schmidt, Boerge; Strowitzki, Thomas; Kimmig, Rainer; Gellhaus, Alexandra (2018)
Tight interplay in early pregnancy between follistatin and anti-mullerian hormone in women with polycystic ovarian syndrome (PCOS)
Archives of gynecology and obstetrics 297 (5), S. 1307–1316. https://doi.org/10.1007/s00404-018-4718-4.

Köninger, Angela; Kampmeier, Antje; Schmidt, Boerge; Frank, Mirjam; Strowitzki, Thomas; Kimmig, Rainer; Gellhaus, Alexandra; Mach, Pawel (2018)
Trends in anti-Müllerian hormone concentrations across different stages of pregnancy in women with polycystic ovary syndrome
Reproductive biomedicine online 37 (3), S. 367–374. https://doi.org/10.1016/j.rbmo.2018.05.011.

Kraemer, Markus; Huynh, Quoc Bao; Wieczorek, Dagmar; Balliu, Brunilda; Mikat, Barbara; Boehringer, Stefan (2018)
Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis
PeerJ 6, e4740. https://doi.org/10.7717/peerj.4740.

Leitão, Elsa; Beygo, Jasmin; Zeschnigk, Michael; Klein-Hitpass, Ludger; Bargull, Marcel; Rahmann, Sven; Horsthemke, Bernhard (2018)
Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing
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Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Kuechler, Alma; Kruijff, Ineke de; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Lüdecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Guillen Sacoto, Maria J.; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian (2018)
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Brain : a journal of neurology 141 (8), S. 2299–2311. https://doi.org/10.1093/brain/awy173.

Liehr, Thomas; Schreyer, Isolde; Kuechler, Alma; Manolakos, Emmanouil; Singer, Sylke; Dufke, Andreas; Wilhelm, Kathleen; Jančušková, Tereza; Čmejla, Radek; Othman, Moneeb A. K.; Al-Rikabi, Ahmed H.; Mrasek, Kristin; Ziegler, Monika; Kankel, Stefanie; Kreskowski, Katharina; Weise, Anja (2018)
Parental origin of deletions and duplications – about the necessity to check for cryptic inversions
Molecular cytogenetics 11, S. 20. https://doi.org/10.1186/s13039-018-0369-1.

Maccioni, Livia; Weber, Susanne; Elgizouli, Magdeldin; Stoehlker, Anne-Sophie; Geist, Ilona; Peter, Hans-Hartmut; Vach, Werner; Nieters, Alexandra (2018)
Obesity and risk of respiratory tract infections: results of an infection-diary based cohort study
BMC public health 18 (1), S. 271. https://doi.org/10.1186/s12889-018-5172-8.

Marini, Carla; Porro, Alessandro; Rastetter, Agnès; Dalle, Carine; Rivolta, Ilaria; Bauer, Daniel; Oegema, Renske; Nava, Caroline; Parrini, Elena; Mei, Davide; Mercer, Catherine; Dhamija, Radhika; Chambers, Chelsea; Coubes, Christine; Thévenon, Julien; Kuentz, Paul; Julia, Sophie; Pasquier, Laurent; Dubourg, Christèle; Carré, Wilfrid; Rosati, Anna; Melani, Federico; Pisano, Tiziana; Giardino, Maria; Innes, A. Micheil; Alembik, Yves; Scheidecker, Sophie; Santos, Manuela; Figueiroa, Sonia; Garrido, Cristina; Fusco, Carlo; Frattini, Daniele; Spagnoli, Carlotta; Binda, Anna; Granata, Tiziana; Ragona, Francesca; Freri, Elena; Franceschetti, Silvana; Canafoglia, Laura; Castellotti, Barbara; Gellera, Cinzia; Milanesi, Raffaella; Mancardi, Maria Margherita; Clark, Damien R.; Kok, Fernando; Helbig, Katherine L.; Ichikawa, Shoji; Sadler, Laurie; Neupauerová, Jana; Laššuthova, Petra; Šterbová, Katalin; Laridon, Annick; Brilstra, Eva; Koeleman, Bobby; Lemke, Johannes R.; Zara, Federico; Striano, Pasquale; Soblet, Julie; Smits, Guillaume; Deconinck, Nicolas; Barbuti, Andrea; DiFrancesco, Dario; LeGuern, Eric; Guerrini, Renzo; Santoro, Bina; Hamacher, Kay; Thiel, Gerhard; Moroni, Anna; DiFrancesco, Jacopo C.; Depienne, Christel (2018)
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Brain : a journal of neurology 141 (11), S. 3160–3178. https://doi.org/10.1093/brain/awy263.

Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie-Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer-Smith, Megan; Trouillard, Oriane; Billette de Villemeur, Thierry; Walsh, Christopher A.; Yu, Timothy W.; Heron, Delphine; Sherr, Elliott H.; Richards, Linda J.; Depienne, Christel; Leventer, Richard J.; Lockhart, Paul J. (2018)
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Human mutation 39 (1), S. 23–39. https://doi.org/10.1002/humu.23361.

Marzin, Pauline; Mignot, Cyril; Dorison, Nathalie; Dufour, Louis; Ville, Dorothée; Kaminska, Anna; Panagiotakaki, Eleni; Dienpendaele, Anne-Sophie; Penniello, Marie-José; Nougues, Marie-Christine; Keren, Boris; Depienne, Christel; Nava, Caroline; Milh, Mathieu; Villard, Laurent; Richelme, Christian; Rivier, Clotilde; Whalen, Sandra; Heron, Delphine; Lesca, Gaëtan; Doummar, Diane (2018)
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Brain & development 40 (9), S. 768–774. https://doi.org/10.1016/j.braindev.2018.05.008.

Meester, Josephina A. N.; Sukalo, Maja; Schröder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert-Dussardier, Brigitte; Holder-Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nelle, Heike; Reardon, Willie; Roll, Claudia; Salih, Mustafa A.; Savarirayan, Ravi; Scurr, Ingrid; Splitt, Miranda; Thompson, Elizabeth; Titheradge, Hannah; Travers, Colm P.; van Maldergem, Lionel; Whiteford, Margo; Wieczorek, Dagmar; Vandeweyer, Geert; Trembath, Richard; van Laer, Lut; Loeys, Bart L.; Zenker, Martin; Southgate, Laura; Wuyts, Wim (2018)
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Human mutation 39 (9), S. 1246–1261. https://doi.org/10.1002/humu.23567.

Monk, David; Morales, Joannella; den Dunnen, Johan T.; Russo, Silvia; Court, Franck; Prawitt, Dirk; Eggermann, Thomas; Beygo, Jasmin; Buiting, Karin; Tümer, Zeynep (2018)
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Epigenetics 13 (2), S. 117–121. https://doi.org/10.1080/15592294.2016.1264561.

Neureiter, Anika; Brändl, Björn; Hiber, Michaela; Tandon, Rashmi; Müller, Franz-Josef; Steenpass, Laura (2018)
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect
Stem cell research 33, S. 20–24. https://doi.org/10.1016/j.scr.2018.09.015.

Newton, Timothy; Allison, Rachel; Edgar, James R.; Lumb, Jennifer H.; Rodger, Catherine E.; Manna, Paul T.; Rizo, Tania; Kohl, Zacharias; Nygren, Anders O. H.; Arning, Larissa; Schüle, Rebecca; Depienne, Christel; Goldberg, Lisa; Frahm, Christiane; Stevanin, Giovanni; Durr, Alexandra; Schöls, Ludger; Winner, Beate; Beetz, Christian; Reid, Evan (2018)
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
Brain : a journal of neurology 141 (5), S. 1286–1299. https://doi.org/10.1093/brain/awy034.

Parodi, Livia; Fenu, Silvia; Barbier, Mathieu; Banneau, Guillaume; Duyckaerts, Charles; Du Tezenas Montcel, Sophie; Monin, Marie-Lorraine; Ait Said, Samia; Guegan, Justine; Tallaksen, Chantal M. E.; Sablonniere, Bertrand; Brice, Alexis; Stevanin, Giovanni; Depienne, Christel; Durr, Alexandra (2018)
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
Brain : a journal of neurology 141 (12), S. 3331–3342. https://doi.org/10.1093/brain/awy285.

Reijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; Burca, Anna de; Henderson, Alex; Kraus, Alison; Mikat, Barbara; Vries, Bert B. A. de; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P. A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M. A.; Douzgou, Sofia; Wall, Steven A.; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O. M. (2018)
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
American journal of human genetics 102 (6), S. 1195–1203. https://doi.org/10.1016/j.ajhg.2018.04.014.

Schipper, Leonie; Kanber, Deniz; Steenpass, Laura (2018)
Generation of heterozygous and homozygous hESC H9 sublines carrying inactivating mutations in RB1
Stem cell research 33, S. 41–45. https://doi.org/10.1016/j.scr.2018.09.016.

Schulte, Marc; Köster, Johannes; Rahmann, Sven; Schramm, Alexander (2018)
Cancer evolution, mutations, and clonal selection in relapse neuroblastoma
Cell and tissue research 372 (2), S. 263–268. https://doi.org/10.1007/s00441-018-2810-5.

Soukup, Daniel; Kuechler, Alma; Roesler, Joachim; Pichlmaier, Leopold; Eckerland, Maximillian; Olivier, Margarete; Stehling, Florian (2018)
Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation
Frontiers in genetics 9, S. 355. https://doi.org/10.3389/fgene.2018.00355.

Stanurova, Jana; Neureiter, Anika; Hiber, Michaela; Oliveira Kessler, Hannah de; Stolp, Kristin; Goetzke, Roman; Klein, Diana; Bankfalvi, Agnes; Klump, Hannes; Steenpass, Laura (2018)
Corrigendum: Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing
Scientific reports 8, S. 46952. https://doi.org/10.1038/srep46952.

Stöcker, Bianca K.; Köster, Johannes; Zamir, Eli; Rahmann, Sven (2018)
Modeling and simulating networks of interdependent protein interactions
Integrative biology : quantitative biosciences from nano to macro 10 (5), S. 290–305. https://doi.org/10.1039/c8ib00012c.

Tandon, Rashmi; Brändl, Björn; Baryshnikova, Natalya; Landshammer, Alexandro; Steenpaß, Laura; Keminer, Oliver; Pless, Ole; Müller, Franz-Josef (2018)
Generation of two human isogenic iPSC lines from fetal dermal fibroblasts
Stem cell research 33, S. 120–124. https://doi.org/10.1016/j.scr.2018.10.004.

Timm, Henning; Weigand, Hannah; Weiss, Martina; Leese, Florian; Rahmann, Sven (2018)
ddrage: A data set generator to evaluate ddRADseq analysis software
Molecular ecology resources 18 (3), S. 681–690. https://doi.org/10.1111/1755-0998.12743.

Vasileiou, Georgia; Vergarajauregui, Silvia; Endele, Sabine; Popp, Bernt; Büttner, Christian; Ekici, Arif B.; Gerard, Marion; Bramswig, Nuria C.; Albrecht, Beate; Clayton-Smith, Jill; Morton, Jenny; Tomkins, Susan; Low, Karen; Weber, Astrid; Wenzel, Maren; Altmüller, Janine; Li, Yun; Wollnik, Bernd; Hoganson, George; Plona, Maria-Renée; Cho, Megan T.; Thiel, Christian T.; Lüdecke, Hermann-Josef; Strom, Tim M.; Calpena, Eduardo; Wilkie, Andrew O. M.; Wieczorek, Dagmar; Engel, Felix B.; Reis, André (2018)
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
American journal of human genetics 102 (3), S. 468–479. https://doi.org/10.1016/j.ajhg.2018.01.014.

Zeka, Fjoralba; Decock, Anneleen; van Goethem, Alan; Vanderheyden, Katrien; Demuynck, Fleur; Lammens, Tim; Helsmoortel, Hetty H.; Vermeulen, Joëlle; Noguera, Rosa; Berbegall, Ana P.; Combaret, Valérie; Schleiermacher, Gudrun; Laureys, Geneviève; Schramm, Alexander; Schulte, Johannes H.; Rahmann, Sven; Bienertová-Vašků, Julie; Mazánek, Pavel; Jeison, Marta; Ash, Shifra; Hogarty, Michael D.; Moreno-Smith, Mirthala; Barbieri, Eveline; Shohet, Jason; Berthold, Frank; van Maerken, Tom; Speleman, Frank; Fischer, Matthias; Preter, Katleen de; Mestdagh, Pieter; Vandesompele, Jo (2018)
Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients
JCI insight 3 (23). https://doi.org/10.1172/jci.insight.97021.

2017

Beisser, Daniela; Graupner, Nadine; Bock, Christina; Wodniok, Sabina; Grossmann, Lars; Vos, Matthijs; Sures, Bernd; Rahmann, Sven; Boenigk, Jens (2017)
Comprehensive transcriptome analysis provides new insights into nutritional strategies and phylogenetic relationships of chrysophytes
PeerJ 5, e2832. https://doi.org/10.7717/peerj.2832.

Beisser, Daniela; Graupner, Nadine; Grossmann, Lars; Timm, Henning; Boenigk, Jens; Rahmann, Sven (2017)
TaxMapper: an analysis tool, reference database and workflow for metatranscriptome analysis of eukaryotic microorganisms
BMC genomics 18 (1), S. 787. https://doi.org/10.1186/s12864-017-4168-6.

Beisser, Daniela; Kaschani, Farnusch; Graupner, Nadine; Grossmann, Lars; Jensen, Manfred; Ninck, Sabrina; Schulz, Florian; Rahmann, Sven; Boenigk, Jens; Kaiser, Markus (2017)
Quantitative Proteomics Reveals Ecophysiological Effects of Light and Silver Stress on the Mixotrophic Protist Poterioochromonas malhamensis
PloS one 12 (1), e0168183. https://doi.org/10.1371/journal.pone.0168183.

Beygo, Jasmin; Küchler, Alma; Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eckle, Jonas; Eggermann, Thomas; Gellhaus, Alexandra; Kanber, Deniz; Kordaß, Ulrike; Lüdecke, Hermann-Josef; Purmann, Sabine; Rossier, Eva; van de Nes, Johannes; van der Werf, Ilse M.; Wenzel, Maren; Wieczorek, Dagmar; Horsthemke, Bernhard; Buiting, Karin (2017)
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
European journal of human genetics : EJHG 25 (8), S. 935–945. https://doi.org/10.1038/ejhg.2017.91.

Bramswig, Nuria C.; Caluseriu, O.; Lüdecke, H-J; Bolduc, F. V.; Noel, N. C. L.; Wieland, T.; Surowy, H. M.; Christen, H-J; Engels, H.; Strom, T. M.; Wieczorek, D. (2017)
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype
Hum Genet 136 (3), S. 297–305. https://doi.org/10.1007/s00439-017-1757-z.

Bramswig, Nuria C.; Lüdecke, Hermann-Josef; Hamdan, Fadi F.; Altmüller, Janine; Beleggia, Filippo; Elcioglu, Nursel H.; Freyer, Catharine; Gerkes, Erica H.; Demirkol, Yasemin Kendir; Knupp, Kelly G.; Kuechler, Alma; Li, Yun; Lowenstein, Daniel H.; Michaud, Jacques L.; Park, Kristen; Stegmann, Alexander P. A.; Veenstra-Knol, Hermine E.; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M.; Kleefstra, Tjitske; Wieczorek, Dagmar (2017)
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Hum Genet 136 (7), S. 821–834. https://doi.org/10.1007/s00439-017-1795-6.

Bramswig, Nuria C.; Lüdecke, H-J; Pettersson, M.; Albrecht, B.; Bernier, R. A.; Cremer, K.; Eichler, E. E.; Falkenstein, D.; Gerdts, J.; Jansen, S.; Kuechler, A.; Kvarnung, M.; Lindstrand, A.; Nilsson, D.; Nordgren, A.; Pfundt, R.; Spruijt, L.; Surowy, H. M.; Vries, B. B. A. de; Wieland, T.; Engels, H.; Strom, T. M.; Kleefstra, T.; Wieczorek, D. (2017)
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Hum Genet 136 (2), S. 179–192. https://doi.org/10.1007/s00439-016-1743-x.

Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K.; Lüdecke, Hermann-Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M.; Wieland, Thomas; Andrieux, Joris; Strom, Tim M.; Wieczorek, Dagmar; Dieux-Coëslier, Anne; Zink, Alexander M. (2017)
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
American journal of medical genetics. Part A 173 (2), S. 435–443. https://doi.org/10.1002/ajmg.a.38034.

Depienne, Christel; Nava, Caroline; Keren, Boris; Heide, Solveig; Rastetter, Agnès; Passemard, Sandrine; Chantot-Bastaraud, Sandra; Moutard, Marie-Laure; Agrawal, Pankaj B.; VanNoy, Grace; Stoler, Joan M.; Amor, David J.; Billette de Villemeur, Thierry; Doummar, Diane; Alby, Caroline; Cormier-Daire, Valérie; Garel, Catherine; Marzin, Pauline; Scheidecker, Sophie; Saint-Martin, Anne de; Hirsch, Edouard; Korff, Christian; Bottani, Armand; Faivre, Laurence; Verloes, Alain; Orzechowski, Christine; Burglen, Lydie; Leheup, Bruno; Roume, Joelle; Andrieux, Joris; Sheth, Frenny; Datar, Chaitanya; Parker, Michael J.; Pasquier, Laurent; Odent, Sylvie; Naudion, Sophie; Delrue, Marie-Ange; Le Caignec, Cédric; Vincent, Marie; Isidor, Bertrand; Renaldo, Florence; Stewart, Fiona; Toutain, Annick; Koehler, Udo; Häckl, Birgit; Stülpnagel, Celina von; Kluger, Gerhard; Møller, Rikke S.; Pal, Deb; Jonson, Tord; Soller, Maria; Verbeek, Nienke E.; van Haelst, Mieke M.; Kovel, Carolien de; Koeleman, Bobby; Monroe, Glen; van Haaften, Gijs; Attié-Bitach, Tania; Boutaud, Lucile; Héron, Delphine; Mignot, Cyril (2017)
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Hum Genet 136 (4), S. 463–479. https://doi.org/10.1007/s00439-017-1772-0.

Eggermann, Thomas; Oehl-Jaschkowitz, Barbara; Dicks, Severin; Thomas, Wolfgang; Kanber, Deniz; Albrecht, Beate; Begemann, Matthias; Kurth, Ingo; Beygo, Jasmin; Buiting, Karin (2017)
The maternal uniparental disomy of chromosome 6 (upd(6)mat) „phenotype“: result of placental trisomy 6 mosaicism?
Molecular genetics & genomic medicine 5 (6), S. 668–677. https://doi.org/10.1002/mgg3.324.

Elgizouli, Magdeldin; Logan, Chad; Grychtol, Ruth; Rothenbacher, Dietrich; Nieters, Alexandra; Heinzmann, Andrea (2017)
Reduced PRF1 enhancer methylation in children with a history of severe RSV bronchiolitis in infancy: an association study
BMC pediatrics 17 (1), S. 65. https://doi.org/10.1186/s12887-017-0817-9.

Gharun, Kourosh; Senges, Julia; Seidl, Maximilian; Lösslein, Anne; Kolter, Julia; Lohrmann, Florens; Fliegauf, Manfred; Elgizouli, Magdeldin; Alber, Marco; Vavra, Martina; Schachtrup, Kristina; Illert, Anna L.; Gilleron, Martine; Kirschning, Carsten J.; Triantafyllopoulou, Antigoni; Henneke, Philipp (2017)
Mycobacteria exploit nitric oxide-induced transformation of macrophages into permissive giant cells
EMBO reports 18 (12), S. 2144–2159. https://doi.org/10.15252/embr.201744121.

Horsch, Salome; Kopczynski, Dominik; Kuthe, Elias; Baumbach, Jörg Ingo; Rahmann, Sven; Rahnenführer, Jörg (2017)
A detailed comparison of analysis processes for MCC-IMS data in disease classification-Automated methods can replace manual peak annotations
PloS one 12 (9), e0184321. https://doi.org/10.1371/journal.pone.0184321.

Kehrmann, J.; Veckollari, B.; Schmidt, D.; Schildgen, O.; Schildgen, V.; Wagner, N.; Zeschnigk, M.; Klein-Hitpass, L.; Witzke, O.; Buer, J.; Steinmann, J. (2017)
The lung microbiome in patients with pneumocystosis
BMC pulmonary medicine 17 (1), S. 170. https://doi.org/10.1186/s12890-017-0512-5.

Kuechler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth; Grasshoff, Ute; Hüffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Rivière, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, André; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias B.; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M.; Lüdecke, Hermann-Josef; Wieczorek, Dagmar (2017)
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
European journal of human genetics : EJHG 25 (2), S. 183–191. https://doi.org/10.1038/ejhg.2016.165.

Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton-Smith, Jill; Colley, Alison; Buiting, Karin; Dudding-Byth, Tracy (2017)
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature
American journal of medical genetics. Part A 173 (3), S. 753–757. https://doi.org/10.1002/ajmg.a.38072.

Marsh, Ashley P. L.; Heron, Delphine; Edwards, Timothy J.; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A.; McGillivray, George; McIlroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R.; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A.; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah E. M.; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attié-Bitach, Tania; Delatycki, Martin B.; Mandel, Jean-Louis; Amor, David J.; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette de Villemeur, Thierry; Sherr, Elliott H.; Leventer, Richard J.; Richards, Linda J.; Lockhart, Paul J.; Depienne, Christel (2017)
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Nature genetics 49 (4), S. 511–514. https://doi.org/10.1038/ng.3794.

Martin-Marcos, Pilar; Zhou, Fujun; Karunasiri, Charm; Zhang, Fan; Dong, Jinsheng; Nanda, Jagpreet; Kulkarni, Shardul D.; Sen, Neelam Dabas; Tamame, Mercedes; Zeschnigk, Michael; Lorsch, Jon R.; Hinnebusch, Alan G. (2017)
eIF1A residues implicated in cancer stabilize translation preinitiation complexes and favor suboptimal initiation sites in yeast
eLife 6. https://doi.org/10.7554/eLife.31250.

Parenti, Ilaria; Teresa-Rodrigo, María E.; Pozojevic, Jelena; Ruiz Gil, Sara; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C.; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M.; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pié, Juan; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J. (2017)
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Hum Genet 136 (3), S. 307–320. https://doi.org/10.1007/s00439-017-1758-y.

Redler, Silke; Strom, Tim M.; Wieland, Thomas; Cremer, Kirsten; Engels, Hartmut; Distelmaier, Felix; Schaper, Jörg; Küchler, Alma; Lemke, Johannes R.; Jeschke, Stephanie; Schreyer, Nicole; Sticht, Heinrich; Koch, Margarete; Lüdecke, Hermann-Josef; Wieczorek, Dagmar (2017)
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
European journal of human genetics : EJHG 25 (7), S. 889–893. https://doi.org/10.1038/ejhg.2017.52.

Ripperger, Tim; Bielack, Stefan S.; Borkhardt, Arndt; Brecht, Ines B.; Burkhardt, Birgit; Calaminus, Gabriele; Debatin, Klaus-Michael; Deubzer, Hedwig; Dirksen, Uta; Eckert, Cornelia; Eggert, Angelika; Erlacher, Miriam; Fleischhack, Gudrun; Frühwald, Michael C.; Gnekow, Astrid; Goehring, Gudrun; Graf, Norbert; Hanenberg, Helmut; Hauer, Julia; Hero, Barbara; Hettmer, Simone; Hoff, Katja von; Horstmann, Martin; Hoyer, Juliane; Illig, Thomas; Kaatsch, Peter; Kappler, Roland; Kerl, Kornelius; Klingebiel, Thomas; Kontny, Udo; Kordes, Uwe; Körholz, Dieter; Koscielniak, Ewa; Kramm, Christof M.; Kuhlen, Michaela; Kulozik, Andreas E.; Lamottke, Britta; Leuschner, Ivo; Lohmann, Dietmar R.; Meinhardt, Andrea; Metzler, Markus; Meyer, Lüder H.; Moser, Olga; Nathrath, Michaela; Niemeyer, Charlotte M.; Nustede, Rainer; Pajtler, Kristian W.; Paret, Claudia; Rasche, Mareike; Reinhardt, Dirk; Rieß, Olaf; Russo, Alexandra; Rutkowski, Stefan; Schlegelberger, Brigitte; Schneider, Dominik; Schneppenheim, Reinhard; Schrappe, Martin; Schroeder, Christopher; Schweinitz, Dietrich von; Simon, Thorsten; Sparber-Sauer, Monika; Spix, Claudia; Stanulla, Martin; Steinemann, Doris; Strahm, Brigitte; Temming, Petra; Thomay, Kathrin; Bueren, Andre O. von; Vorwerk, Peter; Witt, Olaf; Wlodarski, Marcin; Wössmann, Willy; Zenker, Martin; Zimmermann, Stefanie; Pfister, Stefan M.; Kratz, Christian P. (2017)
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
American journal of medical genetics. Part A 173 (4), S. 1017–1037. https://doi.org/10.1002/ajmg.a.38142.

Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; Teresa, Stefano DMaria; Valente, Enza Maria; Borgatti, Renato (2017)
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation (European Radiology, (2017), 27, 12, (5080-5092), 10.1007/s00330-017-4945-2)
European radiology 27 (12), S. 5093. https://doi.org/10.1007/s00330-017-4986-6.

Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D‘Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017)
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
European radiology 27 (12), S. 5093. https://doi.org/10.1007/s00330-017-4986-6.

Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D‘Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017)
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
European radiology 27 (12), S. 5080–5092. https://doi.org/10.1007/s00330-017-4945-2.

Romeo, Giovanni; Passarge, Eberhard; La Chapelle, Albert de (2017)
The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school
European journal of human genetics : EJHG 25 (s2), S6-S12. https://doi.org/10.1038/ejhg.2017.142.

Schröder, Christopher; Leitão, Elsa; Wallner, Stefan; Schmitz, Gerd; Klein-Hitpass, Ludger; Sinha, Anupam; Jöckel, Karl-Heinz; Heilmann-Heimbach, Stefanie; Hoffmann, Per; Nöthen, Markus M.; Steffens, Michael; Ebert, Peter; Rahmann, Sven; Horsthemke, Bernhard (2017)
Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function
Epigenetics & chromatin 10 (1), S. 37. https://doi.org/10.1186/s13072-017-0144-2.

Schröder, Christopher; Rahmann, Sven (2017)
A hybrid parameter estimation algorithm for beta mixtures and applications to methylation state classification
Algorithms for molecular biology : AMB 12, S. 21. https://doi.org/10.1186/s13015-017-0112-1.

Schwermer, Melanie; Dreesmann, Sabine; Eggert, Angelika; Althoff, Kristina; Steenpass, Laura; Schramm, Alexander; Schulte, Johannes H.; Temming, Petra (2017)
Pharmaceutically inhibiting polo-like kinase 1 exerts a broad anti-tumour activity in retinoblastoma cell lines
Clinical & experimental ophthalmology 45 (3), S. 288–296. https://doi.org/10.1111/ceo.12838.

Stähr, Kerstin; Kuechler, Alma; Gencik, Martin; Arnolds, Judith; Dendy, Meaghan; Lang, Stephan; Arweiler-Harbeck, Diana (2017)
Cochlear Implantation in Siblings With Refsum‘s Disease
The Annals of otology, rhinology, and laryngology 126 (8), S. 611–614. https://doi.org/10.1177/0003489417717269.

Steenpass, Laura (2017)
Generation of two H1 hESC sublines carrying a heterozygous and homozygous knock-out of RB1
Stem cell research 25, S. 270–273. https://doi.org/10.1016/j.scr.2017.07.005.

Sucker, Antje; Zhao, Fang; Pieper, Natalia; Heeke, Christina; Maltaner, Raffaela; Stadtler, Nadine; Real, Birgit; Bielefeld, Nicola; Howe, Sebastian; Weide, Benjamin; Gutzmer, Ralf; Utikal, Jochen; Loquai, Carmen; Gogas, Helen; Klein-Hitpass, Ludger; Zeschnigk, Michael; Westendorf, Astrid M.; Trilling, Mirko; Horn, Susanne; Schilling, Bastian; Schadendorf, Dirk; Griewank, Klaus G.; Paschen, Annette (2017)
Acquired IFNγ resistance impairs anti-tumor immunity and gives rise to T-cell-resistant melanoma lesions
Nature communications 8, S. 15440. https://doi.org/10.1038/ncomms15440.

Syrbe, Steffen; Harms, Frederike L.; Parrini, Elena; Montomoli, Martino; Mütze, Ulrike; Helbig, Katherine L.; Polster, Tilman; Albrecht, Beate; Bernbeck, Ulrich; van Binsbergen, Ellen; Biskup, Saskia; Burglen, Lydie; Denecke, Jonas; Heron, Bénédicte; Heyne, Henrike O.; Hoffmann, Georg F.; Hornemann, Frauke; Matsushige, Takeshi; Matsuura, Ryuki; Kato, Mitsuhiro; Korenke, G. Christoph; Kuechler, Alma; Lämmer, Constanze; Merkenschlager, Andreas; Mignot, Cyril; Ruf, Susanne; Nakashima, Mitsuko; Saitsu, Hirotomo; Stamberger, Hannah; Pisano, Tiziana; Tohyama, Jun; Weckhuysen, Sarah; Werckx, Wendy; Wickert, Julia; Mari, Francesco; Verbeek, Nienke E.; Møller, Rikke S.; Koeleman, Bobby; Matsumoto, Naomichi; Dobyns, William B.; Battaglia, Domenica; Lemke, Johannes R.; Kutsche, Kerstin; Guerrini, Renzo (2017)
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Brain : a journal of neurology 140 (9), S. 2322–2336. https://doi.org/10.1093/brain/awx195.

Temming, Petra; Arendt, Marina; Viehmann, Anja; Eisele, Lewin; Le Guin, Claudia H. D.; Schündeln, Michael M.; Biewald, Eva; Astrahantseff, Kathy; Wieland, Regina; Bornfeld, Norbert; Sauerwein, Wolfgang; Eggert, Angelika; Jöckel, Karl-Heinz; Lohmann, Dietmar R. (2017)
Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center
Pediatric blood & cancer 64 (1), S. 71–80. https://doi.org/10.1002/pbc.26193.

2016

Amaro, Adriana; Parodi, Federica; Diedrich, Konrad; Angelini, Giovanna; Götz, Cornelia; Viaggi, Silvia; Maric, Irena; Coviello, Domenico; Pistillo, Maria Pia; Morabito, Anna; Mandalà, Mario; Ghiorzo, Paola; Visconti, Paola; Gualco, Marina; Anselmi, Luca; Puzone, Roberto; Lanza, Francesco; Mosci, Carlo; Raggi, Federica; Bosco, Maria Carla; Varesio, Luigi; Zeschnigk, Michael; Spano, Laura; Queirolo, Paola; Pfeffer, Ulrich (2016)
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma
JAMA ophthalmology 134 (10), S. 1125–1133. https://doi.org/10.1001/jamaophthalmol.2016.2691.

Bender, Jennifer K.; Kalmbach, Alexander; Fleige, Carola; Klare, Ingo; Fuchs, Stephan; Werner, Guido (2016)
Population structure and acquisition of the vanB resistance determinant in German clinical isolates of Enterococcus faecium ST192
Scientific reports 6, S. 21847. https://doi.org/10.1038/srep21847.

Bens, Susanne; Kolarova, Julia; Beygo, Jasmin; Buiting, Karin; Caliebe, Almuth; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Prawitt, Dirk; Thiele-Schmitz, Susanne; Begemann, Matthias; Enklaar, Thorsten; Gutwein, Jana; Haake, Andrea; Paul, Ulrike; Richter, Julia; Soellner, Lukas; Vater, Inga; Monk, David; Horsthemke, Bernhard; Ammerpohl, Ole; Siebert, Reiner (2016)
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances
Epigenomics 8 (6), S. 801–816. https://doi.org/10.2217/epi-2016-0007.

Beygo, Jasmin; Joksic, Ivana; Strom, Tim M.; Lüdecke, Hermann-Josef; Kolarova, Julia; Siebert, Reiner; Mikovic, Zeljko; Horsthemke, Bernhard; Buiting, Karin (2016)
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome
European journal of human genetics : EJHG 24 (9), S. 1280–1286. https://doi.org/10.1038/ejhg.2016.3.

Buiting, Karin; Williams, Charles; Horsthemke, Bernhard (2016)
Angelman syndrome – insights into a rare neurogenetic disorder
Nature reviews. Neurology 12 (10), S. 584–593. https://doi.org/10.1038/nrneurol.2016.133.

Demond, Hannah; Trapphoff, Tom; Dankert, Deborah; Heiligentag, Martyna; Grümmer, Ruth; Horsthemke, Bernhard; Eichenlaub-Ritter, Ursula (2016)
Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine Oocytes
PloS one 11 (9), e0162722. https://doi.org/10.1371/journal.pone.0162722.

Di Donato, Nataliya; Kuechler, Alma; Vergano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R.; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E.; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; Dobyns, William B. (2016)
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
American journal of medical genetics. Part A 170 (10), S. 2644–2651. https://doi.org/10.1002/ajmg.a.37771.

Eggermann, Katja; Bliek, Jet; Brioude, Frédéric; Algar, Elizabeth; Buiting, Karin; Russo, Silvia; Tümer, Zeynep; Monk, David; Moore, Gudrun; Antoniadi, Thalia; Macdonald, Fiona; Netchine, Irène; Lombardi, Paolo; Soellner, Lukas; Begemann, Matthias; Prawitt, Dirk; Maher, Eamonn R.; Mannens, Marcel; Riccio, Andrea; Weksberg, Rosanna; Lapunzina, Pablo; Grønskov, Karen; Mackay, Deborah Jg; Eggermann, Thomas (2016)
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome
European journal of human genetics : EJHG 24 (10), S. 1377–1387. https://doi.org/10.1038/ejhg.2016.45.

Erim, Yesim; Scheel, Jennifer; Breidenstein, Anja; Metz, Claudia Hd; Lohmann, Dietmar; Friederich, Hans-Christoph; Tagay, Sefik (2016)
Psychosocial impact of prognostic genetic testing in the care of uveal melanoma patients: protocol of a controlled prospective clinical observational study
BMC cancer 16, S. 408. https://doi.org/10.1186/s12885-016-2479-7.

Grossmann, Lars; Beisser, Daniela; Bock, Christina; Chatzinotas, Antonis; Jensen, Manfred; Preisfeld, Angelika; Psenner, Roland; Rahmann, Sven; Wodniok, Sabina; Boenigk, Jens (2016)
Trade-off between taxon diversity and functional diversity in European lake ecosystems
Molecular ecology 25 (23), S. 5876–5888. https://doi.org/10.1111/mec.13878.

Grothaus, Katrin; Kanber, Deniz; Gellhaus, Alexandra; Mikat, Barbara; Kolarova, Julia; Siebert, Reiner; Wieczorek, Dagmar; Horsthemke, Bernhard (2016)
Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment
Epigenetics 11 (3), S. 216–226. https://doi.org/10.1080/15592294.2016.1145330.

Hackmann, Karl; Rump, Andreas; Haas, Stefan A.; Lemke, Johannes R.; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M.; Di Donato, Nataliya (2016)
Tentative clinical diagnosis of Lujan-Fryns syndrome—A conglomeration of different genetic entities?
American journal of medical genetics. Part A 170A (1), S. 94–102. https://doi.org/10.1002/ajmg.a.37378.

Hempel, Annmarie; Pagnamenta, Alistair T.; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C.; Howard, Malcolm F.; Keays, David; Sohal, Aman Singh; Kühl, Susanne J.; Kini, Usha; McNeill, Alisdair (2016)
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome
J Med Genet 53 (3), S. 152–162. https://doi.org/10.1136/jmedgenet-2015-103393.

Johansson, Patricia; Bergmann, Anke; Rahmann, Sven; Wohlers, Inken; Scholtysik, René; Przekopowitz, Martina; Seifert, Marc; Tschurtschenthaler, Gertraud; Webersinke, Gerald; Jäger, Ulrich; Siebert, Reiner; Klein-Hitpass, Ludger; Dührsen, Ulrich; Dürig, Jan; Küppers, Ralf (2016)
Recurrent alterations of TNFAIP3 (A20) in T-cell large granular lymphocytic leukemia
International journal of cancer 138 (1), S. 121–124. https://doi.org/10.1002/ijc.29697.

Joshi, Ricky S.; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli; Watson, Corey T.; Azam, Nidha; Ho, Daniel; Li, Xin; Antonarakis, Stylianos E.; Brunner, Han G.; Buiting, Karin; Cheung, Sau Wai; Coffee, Bradford; Eggermann, Thomas; Francis, David; Geraedts, Joep P.; Gimelli, Giorgio; Jacobson, Samuel G.; Le Caignec, Cedric; Leeuw, Nicole de; Liehr, Thomas; Mackay, Deborah J.; Montgomery, Stephen B.; Pagnamenta, Alistair T.; Papenhausen, Peter; Robinson, David O.; Ruivenkamp, Claudia; Schwartz, Charles; Steiner, Bernhard; Stevenson, David A.; Surti, Urvashi; Wassink, Thomas; Sharp, Andrew J. (2016)
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
American journal of human genetics 99 (3), S. 555–566. https://doi.org/10.1016/j.ajhg.2016.06.032.

Kim, Jung-Hyun; Shinde, Deepali N.; Reijnders, Margot R. F.; Hauser, Natalie S.; Belmonte, Rebecca L.; Wilson, Gregory R.; Bosch, Daniëlle G. M.; Bubulya, Paula A.; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K.; Park, Eun Young; Veltman, Joris A.; Sinnema, Margje; Stumpel, Connie T. R. M.; Draaisma, Jos M.; Nicolai, Joost; Yntema, Helger G.; Lindstrom, Kristin; Vries, Bert B. A. de; Jewett, Tamison; Santoro, Stephanie L.; Vogt, Julie; Bachman, Kristine K.; Seeley, Andrea H.; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M.; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A.; Behunova, Jana; Rehder, Helga; Gordon, Christopher T.; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T.; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G.; Brunner, Han G.; Mancini, Grazia M.; Myers, Richard M.; Owen, Laurie B.; Lim, Ssang-Taek; Stachura, David L.; Vissers, Lisenka E. L. M.; Ahn, Eun-Young Erin (2016)
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
American journal of human genetics 99 (3), S. 711–719. https://doi.org/10.1016/j.ajhg.2016.06.029.

Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; van Essen, Anthonie J.; Leuzzi, Vincenzo (2016)
Epilepsy in KCNH1-related syndromes
Epileptic disorders : international epilepsy journal with videotape 18 (2), S. 123–136. https://doi.org/10.1684/epd.2016.0830.

Mikat, Barbara; Roll, Claudia; Schindler, Detlev; Gembruch, Ulrich; Klempert, Iris; Buiting, Karin; Bramswig, Nuria C.; Wieczorek, Dagmar (2016)
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy
Clinical dysmorphology 25 (2), S. 73–76. https://doi.org/10.1097/MCD.0000000000000111.

Müller, Bent; Wilcke, Arndt; Boulesteix, Anne-Laure; Brauer, Jens; Passarge, Eberhard; Boltze, Johannes; Kirsten, Holger (2016)
Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives
Hum Genet 135 (3), S. 259–272. https://doi.org/10.1007/s00439-016-1636-z.

Parenti, I.; Gervasini, C.; Pozojevic, J.; Wendt, K. S.; Watrin, E.; Azzollini, J.; Braunholz, D.; Buiting, K.; Cereda, A.; Engels, H.; Garavelli, L.; Glazar, R.; Graffmann, B.; Larizza, L.; Lüdecke, H. J.; Mariani, M.; Masciadri, M.; Pié, J.; Ramos, F. J.; Russo, S.; Selicorni, A.; Stefanova, M.; Strom, T. M.; Werner, R.; Wierzba, J.; Zampino, G.; Gillessen-Kaesbach, G.; Wieczorek, D.; Kaiser, F. J. (2016)
Expanding the clinical spectrum of the ‚HDAC8-phenotype‘ – implications for molecular diagnostics, counseling and risk prediction
Clinical genetics 89 (5), S. 564–573. https://doi.org/10.1111/cge.12717.

Passarge, Eberhard (2016)
James L. German, a pioneer in early human genetic research turned 90
American journal of medical genetics. Part A 170 (6), S. 1564–1565. https://doi.org/10.1002/ajmg.a.37635.

Passarge, Eberhard; Robinson, Peter N.; Graul-Neumann, Luitgard M. (2016)
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy
European journal of human genetics : EJHG 24 (9), S. 1244–1247. https://doi.org/10.1038/ejhg.2016.6.

Rudnik-Schöneborn, S.; Tölle, D.; Senderek, J.; Eggermann, K.; Elbracht, M.; Kornak, U.; Hagen, M. von der; Kirschner, J.; Leube, B.; Müller-Felber, W.; Schara, U.; Au, K. von; Wieczorek, D.; Bußmann, C.; Zerres, K. (2016)
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients
Clinical genetics 89 (1), S. 34–43. https://doi.org/10.1111/cge.12594.

Schäfgen, Johanna; Cremer, Kirsten; Becker, Jessica; Wieland, Thomas; Zink, Alexander M.; Kim, Sarah; Windheuser, Isabelle C.; Kreiß, Martina; Aretz, Stefan; Strom, Tim M.; Wieczorek, Dagmar; Engels, Hartmut (2016)
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
European journal of human genetics : EJHG 24 (12), S. 1739–1745. https://doi.org/10.1038/ejhg.2016.90.

Schedler, Katharina J. E.; Traine, Peter G.; Lohmann, Dietmar R.; Haritoglou, Christos; Metz, Klaus A.; Rodrigues, Eduardo B. (2016)
Hereditary Diffuse Infiltrating Retinoblastoma
Ophthalmic Genetics 73, S. 1–3. https://doi.org/10.3109/13816810.2014.921315.

Srivastava, Siddharth; Engels, Hartmut; Schanze, Ina; Cremer, Kirsten; Wieland, Thomas; Menzel, Moritz; Schubach, Max; Biskup, Saskia; Kreiß, Martina; Endele, Sabine; Strom, Tim M.; Wieczorek, Dagmar; Zenker, Martin; Gupta, Siddharth; Cohen, Julie; Zink, Alexander M.; Naidu, SakkuBai (2016)
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
European journal of human genetics : EJHG 24 (4), S. 556–561. https://doi.org/10.1038/ejhg.2015.151.

Stanurova, Jana; Neureiter, Anika; Hiber, Michaela; Oliveira Kessler, Hannah de; Stolp, Kristin; Goetzke, Roman; Klein, Diana; Bankfalvi, Agnes; Klump, Hannes; Steenpass, Laura (2016)
Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing
Scientific reports 6, S. 30792. https://doi.org/10.1038/srep30792.

Stöcker, Bianca K.; Köster, Johannes; Rahmann, Sven (2016)
SimLoRD: Simulation of Long Read Data
Bioinformatics (Oxford, England) 32 (17), S. 2704–2706. https://doi.org/10.1093/bioinformatics/btw286.

Stunnenberg, Hendrik G.; Hirst, Martin (2016)
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery
Cell 167 (5), S. 1145–1149. https://doi.org/10.1016/j.cell.2016.11.007.

Stunnenberg, Hendrik G.; Hirst, Martin (2016)
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery
Cell 167 (7), S. 1897. https://doi.org/10.1016/j.cell.2016.12.002.

Temming, Petra; Arendt, Marina; Viehmann, Anja; Eisele, Lewin; Le Guin, Claudia H.D.; Schündeln, Michael M.; Biewald, Eva; Mäusert, Jennifer; Wieland, Regina; Bornfeld, Norbert; Sauerwein, Wolfgang; Eggert, Angelika; Lohmann, Dietmar R.; Jöckel, Karl-Heinz (2016)
How Eye-Preserving Therapy Affects Long-Term Overall Survival in Heritable Retinoblastoma Survivors
JCO 34 (26), S. 3183–3188. https://doi.org/10.1200/JCO.2015.65.4012.

Trapphoff, T.; Heiligentag, M.; Dankert, D.; Demond, H.; Deutsch, D.; Fröhlich, T.; Arnold, G. J.; Grümmer, R.; Horsthemke, B.; Eichenlaub-Ritter, U. (2016)
Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes
Human reproduction (Oxford, England) 31 (1), S. 133–149. https://doi.org/10.1093/humrep/dev279.

van de Nes, Johannes A. P.; Nelles, Jasmin; Kreis, Stefan; Metz, Claudia H. D.; Hager, Thomas; Lohmann, Dietmar R.; Zeschnigk, Michael (2016)
Comparing the Prognostic Value of BAP1 Mutation Pattern, Chromosome 3 Status, and BAP1 Immunohistochemistry in Uveal Melanoma
The American journal of surgical pathology 40 (6), S. 796–805. https://doi.org/10.1097/PAS.0000000000000645.

van der Werf, Ilse M.; Buiting, Karin; Czeschik, Christina; Reyniers, Edwin; Vandeweyer, Geert; Vanhaesebrouck, Piet; Lüdecke, Hermann-Josef; Wieczorek, Dagmar; Horsthemke, Bernhard; Mortier, Geert; Leroy, Jules G.; Kooy, R. Frank (2016)
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
European journal of human genetics : EJHG 24 (12), S. 1724–1729. https://doi.org/10.1038/ejhg.2016.82.

Wallner, Stefan; Schröder, Christopher; Leitão, Elsa; Berulava, Tea; Haak, Claudia; Beißer, Daniela; Rahmann, Sven; Richter, Andreas S.; Manke, Thomas; Bönisch, Ulrike; Arrigoni, Laura; Fröhler, Sebastian; Klironomos, Filippos; Chen, Wei; Rajewsky, Nikolaus; Müller, Fabian; Ebert, Peter; Lengauer, Thomas; Barann, Matthias; Rosenstiel, Philip; Gasparoni, Gilles; Nordström, Karl; Walter, Jörn; Brors, Benedikt; Zipprich, Gideon; Felder, Bärbel; Klein-Hitpass, Ludger; Attenberger, Corinna; Schmitz, Gerd; Horsthemke, Bernhard (2016)
Epigenetic dynamics of monocyte-to-macrophage differentiation
Epigenetics & chromatin 9 (1), S. 74. https://doi.org/10.1186/s13072-016-0079-z.

Yigit, Gökhan; Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Möller-Hartmann, Claudia; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Wollnik, Bernd (2016)
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
American journal of medical genetics. Part A 170 (3), S. 728–733. https://doi.org/10.1002/ajmg.a.37484.

2015

Bauer, Michael; Kölsch, Uwe; Krüger, Renate; Unterwalder, Nadine; Hameister, Karin; Kaiser, Fabian Marc; Vignoli, Aglaia; Rossi, Rainer; Botella, Maria Pilar; Budisteanu, Magdalena; Rosello, Monica; Orellana, Carmen; Tejada, Maria Isabel; Papuc, Sorina Mihaela; Patat, Oliver; Julia, Sophie; Touraine, Renaud; Gomes, Thusari; Wenner, Kirsten; Xu, Xiu; Afenjar, Alexandra; Toutain, Annick; Philip, Nicole; Jezela-Stanek, Aleksandra; Gortner, Ludwig; Martinez, Francisco; Echenne, Bernard; Wahn, Volker; Meisel, Christian; Wieczorek, Dagmar; El-Chehadeh, Salima; van Esch, Hilde; Bernuth, Horst von (2015)
Infectious and immunologic phenotype of MECP2 duplication syndrome
Journal of clinical immunology 35 (2), S. 168–181. https://doi.org/10.1007/s10875-015-0129-5.

Berulava, Tea; Rahmann, Sven; Rademacher, Katrin; Klein-Hitpass, Ludgar; Horsthemke, Bernhard (2015)
N6-adenosine methylation in MiRNAs
PloS one 10 (2), e0118438. https://doi.org/10.1371/journal.pone.0118438.

Beygo, Jasmin; Elbracht, Miriam; Groot, Karel de; Begemann, Matthias; Kanber, Deniz; Platzer, Konrad; Gillessen-Kaesbach, Gabriele; Vierzig, Anne; Green, Andrew; Heller, Raoul; Buiting, Karin; Eggermann, Thomas (2015)
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
European journal of human genetics : EJHG 23 (2), S. 180–188. https://doi.org/10.1038/ejhg.2014.72.

Bögershausen, Nina; Tsai, I-Chun; Pohl, Esther; Kiper, Pelin Özlem Simsek; Beleggia, Filippo; Percin, E. Ferda; Keupp, Katharina; Matchan, Angela; Milz, Esther; Alanay, Yasemin; Kayserili, Hülya; Liu, Yicheng; Banka, Siddharth; Kranz, Andrea; Zenker, Martin; Wieczorek, Dagmar; Elcioglu, Nursel; Prontera, Paolo; Lyonnet, Stanislas; Meitinger, Thomas; Stewart, A. Francis; Donnai, Dian; Strom, Tim M.; Boduroglu, Koray; Yigit, Gökhan; Li, Yun; Katsanis, Nicholas; Wollnik, Bernd (2015)
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
The Journal of clinical investigation 125 (9), S. 3585–3599. https://doi.org/10.1172/JCI80102.

Bramswig, Nuria C.; Lüdecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H.; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillén-Navarro, Encarna; Kiper, Pelin Özlem Simsek; López-González, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J.; Wollnik, Bernd; Strom, Tim M.; Wieczorek, Dagmar (2015)
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
Hum Genet 134 (6), S. 553–568. https://doi.org/10.1007/s00439-015-1535-8.

Bramswig, Nuria C.; Ockeloen, C. W.; Czeschik, J. C.; van Essen, A. J.; Pfundt, R.; Smeitink, J.; Poll-The, B. T.; Engels, H.; Strom, T. M.; Wieczorek, D.; Kleefstra, T.; Lüdecke, H-J (2015)
‚Splitting versus lumping‘: Temple-Baraitser and Zimmermann-Laband Syndromes
Hum Genet 134 (10), S. 1089–1097. https://doi.org/10.1007/s00439-015-1590-1.

Buiting, Karin; Clayton-Smith, Jill; Driscoll, Daniel J.; Gillessen-Kaesbach, Gabriele; Kanber, Deniz; Schwinger, Eberhard; Williams, Charles; Horsthemke, Bernhard (2015)
Clinical utility gene card for: Angelman Syndrome
European journal of human genetics : EJHG 23 (2). https://doi.org/10.1038/ejhg.2014.93.

Dimitrov, B. I.; Ogilvie, C.; Wieczorek, D.; Wakeling, E.; Sikkema-Raddatz, B.; van Ravenswaaij-Arts, C. M. A.; Josifova, D. (2015)
3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients
American journal of medical genetics. Part A 167 (6), S. 1223–1230. https://doi.org/10.1002/ajmg.a.36556.

Docherty, Louise E.; Rezwan, Faisal I.; Poole, Rebecca L.; Turner, Claire L. S.; Kivuva, Emma; Maher, Eamonn R.; Smithson, Sarah F.; Hamilton-Shield, Julian P.; Patalan, Michal; Gizewska, Maria; Peregud-Pogorzelski, Jaroslaw; Beygo, Jasmin; Buiting, Karin; Horsthemke, Bernhard; Soellner, Lukas; Begemann, Matthias; Eggermann, Thomas; Baple, Emma; Mansour, Sahar; Temple, I. Karen; Mackay, Deborah J. G. (2015)
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
Nature communications 6 (1), S. 176. https://doi.org/10.1038/ncomms9086.

Eggermann, Thomas; Soellner, Lukas; Buiting, Karin; Kotzot, Dieter (2015)
Mosaicism and uniparental disomy in prenatal diagnosis
Trends in molecular medicine 21 (2), S. 77–87. https://doi.org/10.1016/j.molmed.2014.11.010.

Fairbrother, Laura C.; Cytrynbaum, Cheryl; Boutis, Paula; Buiting, Karin; Weksberg, Rosanna; Williams, Charles (2015)
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect
Am. J. Med. Genet. 167 (7), S. 1565–1569. https://doi.org/10.1002/ajmg.a.37058.

Fryssira, Helen; Amenta, Stella; Kanber, Deniz; Sofocleous, Christalena; Lykopoulou, Evangelia; Kanaka-Gantenbein, Christina; Cerrato, Flavia; Lüdecke, Hermann-Josef; Bens, Susanne; Riccio, Andrea; Buiting, Karin (2015)
A novel large deletion of the ICR1 region including H19 and putative enhancer elements
BMC Med Genet 16 (1), S. 223. https://doi.org/10.1186/s12881-015-0173-2.

Gannon, Tamsin; Perveen, Rahat; Schlecht, Hélene; Ramsden, Simon; Anderson, Beverley; Kerr, Bronwyn; Day, Ruth; Banka, Siddharth; Suri, Mohnish; Berland, Siren; Gabbett, Michael; Ma, Alan; Lyonnet, Stan; Cormier-Daire, Valerie; Yilmaz, Rüstem; Borck, Guntram; Wieczorek, Dagmar; Anderlid, Britt-Marie; Smithson, Sarah; Vogt, Julie; Moore-Barton, Heather; Simsek-Kiper, Pelin Ozlem; Maystadt, Isabelle; Destrée, Anne; Bucher, Jessica; Angle, Brad; Mohammed, Shehla; Wakeling, Emma; Price, Sue; Singer, Amihood; Sznajer, Yves; Toutain, Annick; Haye, Damien; Newbury-Ecob, Ruth; Fradin, Melanie; McGaughran, Julie; Tuysuz, Beyhan; Tein, Mark; Bouman, Katelijne; Dabir, Tabib; van den Ende, Jenneke; Luk, Ho Ming; Pilz, Daniela T.; Eason, Jacqueline; Davies, Sally; Reardon, Willie; Garavelli, Livia; Zuffardi, Orsetta; Devriendt, Koen; Armstrong, Ruth; Johnson, Diana; Doco-Fenzy, Martine; Bijlsma, Emilia; Unger, Sheila; Veenstra-Knol, Hermine E.; Kohlhase, Jürgen; Lo, Ivan F. M.; Smith, Janine; Clayton-Smith, Jill (2015)
Further delineation of the KAT6B molecular and phenotypic spectrum
European journal of human genetics : EJHG 23 (9), S. 1165–1170. https://doi.org/10.1038/ejhg.2014.248.

Grosser, Christian; Wagner, Nicholas; Grothaus, Katrin; Horsthemke, Bernhard (2015)
Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells
Epigenetics 10 (9), S. 819–833. https://doi.org/10.1080/15592294.2015.1073879.

Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger; Klopstock, Thomas (2015)
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
Annals of clinical and translational neurology 2 (5), S. 492–509. https://doi.org/10.1002/acn3.189.

Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M.; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika; Alhaddad, Bader; Pfundt, Rolph; Fuchs, Sigrid; Wieczorek, Dagmar; Strom, Tim M.; van Gassen, Koen L. I.; Kleefstra, Tjitske; Kubisch, Christian; Engels, Hartmut; Lessel, Davor (2015)
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
American journal of human genetics 97 (3), S. 493–500. https://doi.org/10.1016/j.ajhg.2015.08.003.

Kuechler, Alma; Altmüller, Janine; Nürnberg, Peter; Kotthoff, Stefan; Kubisch, Christian; Borck, Guntram (2015)
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
Molecular and cellular probes 29 (5), S. 330–334. https://doi.org/10.1016/j.mcp.2015.07.003.

Kuechler, Alma; Willemsen, Marjolein H.; Albrecht, Beate; Bacino, Carlos A.; Bartholomew, Dennis W.; van Bokhoven, Hans; van den Boogaard, Marie Jose H.; Bramswig, Nuria; Büttner, Christian; Cremer, Kirsten; Czeschik, Johanna Christina; Engels, Hartmut; van Gassen, Koen; Graf, Elisabeth; van Haelst, Mieke; He, Weimin; Hogue, Jacob S.; Kempers, Marlies; Koolen, David; Monroe, Glen; Munnik, Sonja de; Pastore, Matthew; Reis, André; Reuter, Miriam S.; Tegay, David H.; Veltman, Joris; Visser, Gepke; van Hasselt, Peter; Smeets, Eric E. J.; Vissers, Lisenka; Wieland, Thomas; Wissink, Willemijn; Yntema, Helger; Zink, Alexander Michael; Strom, Tim M.; Lüdecke, Hermann-Josef; Kleefstra, Tjitske; Wieczorek, Dagmar (2015)
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Hum Genet 134 (1), S. 97–109. https://doi.org/10.1007/s00439-014-1498-1.

Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut (2015)
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
European journal of human genetics : EJHG 23 (6), S. 753–760. https://doi.org/10.1038/ejhg.2014.165.

Künkele, Annette; Wilm, Josephine; Holdt, Markus; Lohmann, Dietmar; Bornfeld, Norbert; Eggert, Angelika; Temming, Petra; Schulte, Johannes H. (2015)
Neoadjuvant/adjuvant treatment of high-risk retinoblastoma: a report from the German Retinoblastoma Referral Centre
Br J Ophthalmol 99 (7), S. 949–953. https://doi.org/10.1136/bjophthalmol-2014-306222.

Kwaśniewska, Dobrawa; Staszak, Katarzyna; Wieczorek, Daria; Zieliński, Ryszard (2015)
Synthesis and Interfacial Activity of Novel Heterogemini Sulfobetaines in Aqueous Solution
Journal of surfactants and detergents 18 (3), S. 477–486. https://doi.org/10.1007/s11743-014-1663-5.

Laurentino, Sandra; Beygo, Jasmin; Nordhoff, Verena; Kliesch, Sabine; Wistuba, Joachim; Borgmann, Jennifer; Buiting, Karin; Horsthemke, Bernhard; Gromoll, Jörg (2015)
Epigenetic germline mosaicism in infertile men
Human Molecular Genetics 24 (5), S. 1295–1304. https://doi.org/10.1093/hmg/ddu540.

Lehalle, D.; Wieczorek, D.; Zechi-Ceide, R. M.; Passos-Bueno, M. R.; Lyonnet, S.; Amiel, J.; Gordon, C. T. (2015)
A review of craniofacial disorders caused by spliceosomal defects
Clinical genetics 88 (5), S. 405–415. https://doi.org/10.1111/cge.12596.

Løhmann, Ditte J. A.; Hasle, Henrik (2015)
Hematological Changes Mimicking Myelodysplastic Syndrome Following Treatment for Osteosarcoma
Journal of pediatric hematology/oncology 37 (3), S. 170–174. https://doi.org/10.1097/MPH.0000000000000229.

Maas, Saskia M.; Shaw, Adam C.; Bikker, Hennie; Lüdecke, Hermann-Josef; van der Tuin, Karin; Badura-Stronka, Magdalena; Belligni, Elga; Biamino, Elisa; Bonati, Maria Teresa; Carvalho, Daniel R.; Cobben, JanMaarten; Man, Stella A. de; Den Hollander, Nicolette S.; Di Donato, Nataliya; Garavelli, Livia; Grønborg, Sabine; Herkert, Johanna C.; Hoogeboom, A. Jeannette M.; Jamsheer, Aleksander; Latos-Bielenska, Anna; Maat-Kievit, Anneke; Magnani, Cinzia; Marcelis, Carlo; Mathijssen, Inge B.; Nielsen, Maartje; Otten, Ellen; Ousager, Lilian B.; Pilch, Jacek; Plomp, Astrid; Poke, Gemma; Poluha, Anna; Posmyk, Renata; Rieubland, Claudine; Silengo, Margharita; Simon, Marleen; Steichen, Elisabeth; Stumpel, Connie; Szakszon, Katalin; Polonkai, Edit; van den Ende, Jenneke; van der Steen, Antony; van Essen, Ton; van Haeringen, Arie; van Hagen, Johanna M.; Verheij, Joke B. G. M.; Mannens, Marcel M.; Hennekam, Raoul C. (2015)
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
European journal of medical genetics 58 (5), S. 279–292. https://doi.org/10.1016/j.ejmg.2015.03.002.

Mackay, Deborah J. G.; Eggermann, Thomas; Buiting, Karin; Garin, Intza; Netchine, Irène; Linglart, Agnès; Nanclares, Guiomar Perez de (2015)
Multilocus methylation defects in imprinting disorders
Biomolecular concepts 6 (1), S. 47–57. https://doi.org/10.1515/bmc-2014-0037.

Neuhann, Teresa M.; Stegerer, Annette; Riess, Angelika; Blair, Edward; Martin, Thomas; Wieser, Stefanie; Kläs, Rüdiger; Bouman, Arjan; Kuechler, Alma; Rittinger, Olaf (2015)
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description
American journal of medical genetics. Part A 167A (10), S. 2376–2381. https://doi.org/10.1002/ajmg.a.37157.

Prasad, Vikram; Lorenz, John N.; Lasko, Valerie M.; Nieman, Michelle L.; Huang, Wei; Wang, Yigang; Wieczorek, David W.; Shull, Gary E. (2015)
SERCA2 Haploinsufficiency in a Mouse Model of Darier Disease Causes a Selective Predisposition to Heart Failure
BioMed research international 2015, S. 251598. https://doi.org/10.1155/2015/251598.

Scholz, Simone L.; Horn, Susanne; Murali, Rajmohan; Möller, Inga; Sucker, Antje; Sondermann, Wiebke; Stiller, Mathias; Schilling, Bastian; Livingstone, Elisabeth; Zimmer, Lisa; Reis, Henning; Metz, Claudia H.; Zeschnigk, Michael; Paschen, Annette; Steuhl, Klaus-Peter; Schadendorf, Dirk; Westekemper, Henrike; Griewank, Klaus G. (2015)
Analysis of SDHD promoter mutations in various types of melanoma
Oncotarget 6 (28), S. 25868–25882. https://doi.org/10.18632/oncotarget.4665.

Tarigopula, Madhusudhan; Davis, Robert T.; Mungai, Paul T.; Ryba, David M.; Wieczorek, David F.; Cowan, Conrad L.; Violin, Jonathan D.; Wolska, Beata M.; Solaro, R. John (2015)
Cardiac myosin light chain phosphorylation and inotropic effects of a biased ligand, TRV120023, in a dilated cardiomyopathy model
Cardiovascular research 107 (2), S. 226–234. https://doi.org/10.1093/cvr/cvv162.

Tasiou, Vasiliki; Hiber, Michaela; Steenpass, Laura (2015)
A Mouse Model for Imprinting of the Human Retinoblastoma Gene
PloS one 10 (8), e0134672. https://doi.org/10.1371/journal.pone.0134672.

Tatura, Roman; Zeschnigk, Michael; Hansen, Wiebke; Steinmann, Joerg; Vidigal, Pedrina Goncalves; Hutzler, Marina; Pastille, Eva; Westendorf, Astrid M.; Buer, Jan; Kehrmann, Jan (2015)
Relevance of Foxp3⁺ regulatory T cells for early and late phases of murine sepsis
Immunology 146 (1), S. 144–156. https://doi.org/10.1111/imm.12490.

Temming, Petra; Viehmann, Anja; Arendt, Marina; Eisele, Lewin; Spix, Claudia; Bornfeld, Norbert; Sauerwein, Wolfgang; Jöckel, Karl-Heinz; Lohmann, Dietmar R. (2015)
Pediatric second primary malignancies after retinoblastoma treatment
Pediatric blood & cancer 62 (10), S. 1799–1804. https://doi.org/10.1002/pbc.25576.

Tzschach, Andreas; Grasshoff, Ute; Beck-Woedl, Stefanie; Dufke, Claudia; Bauer, Claudia; Kehrer, Martin; Evers, Christina; Moog, Ute; Oehl-Jaschkowitz, Barbara; Di Donato, Nataliya; Maiwald, Robert; Jung, Christine; Kuechler, Alma; Schulz, Solveig; Meinecke, Peter; Spranger, Stephanie; Kohlhase, Jürgen; Seidel, Jörg; Reif, Silke; Rieger, Manuela; Riess, Angelika; Sturm, Marc; Bickmann, Julia; Schroeder, Christopher; Dufke, Andreas; Riess, Olaf; Bauer, Peter (2015)
Next-generation sequencing in X-linked intellectual disability
European journal of human genetics : EJHG 23 (11), S. 1513–1518. https://doi.org/10.1038/ejhg.2015.5.

Vodopiutz, Julia; Seidl, Rainer; Prayer, Daniela; Khan, M. Imran; Mayr, Johannes A.; Streubel, Berthold; Steiß, Jens-Oliver; Hahn, Andreas; Csaicsich, Dagmar; Castro, Christel; Assoum, Mirna; Müller, Thomas; Wieczorek, Dagmar; Mancini, Grazia M. S.; Sadowski, Carolin E.; Lévy, Nicolas; Mégarbané, André; Godbole, Koumudi; Schanze, Denny; Hildebrandt, Friedhelm; Delague, Valérie; Janecke, Andreas R.; Zenker, Martin (2015)
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
Human mutation 36 (11), S. 1021–1028. https://doi.org/10.1002/humu.22828.

Weaver, K. Nicole; Watt, Kristin E. Noack; Hufnagel, Robert B.; Navajas Acedo, Joaquin; Linscott, Luke L.; Sund, Kristen L.; Bender, Patricia L.; König, Rainer; Lourenco, Charles M.; Hehr, Ute; Hopkin, Robert J.; Lohmann, Dietmar R.; Trainor, Paul A.; Wieczorek, Dagmar; Saal, Howard M. (2015)
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction
American journal of human genetics 96 (5), S. 765–774. https://doi.org/10.1016/j.ajhg.2015.03.011.

2014

Acuna-Hidalgo, Rocio; Schanze, Denny; Kariminejad, Ariana; Nordgren, Ann; Kariminejad, Mohamad Hasan; Conner, Peter; Grigelioniene, Giedre; Nilsson, Daniel; Nordenskjöld, Magnus; Wedell, Anna; Freyer, Christoph; Wredenberg, Anna; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Kayserili, Hülya; Elcioglu, Nursel; Ghaderi-Sohi, Siavash; Goodarzi, Payman; Setayesh, Hamidreza; van de Vorst, Maartje; Steehouwer, Marloes; Pfundt, Rolph; Krabichler, Birgit; Curry, Cynthia; MacKenzie, Malcolm G.; Boycott, Kym M.; Gilissen, Christian; Janecke, Andreas R.; Hoischen, Alexander; Zenker, Martin (2014)
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway
American journal of human genetics 95 (3), S. 285–293. https://doi.org/10.1016/j.ajhg.2014.07.012.

Ayari Jeridi, Hajer; Bouguila, Hédi; Ansperger-Rescher, Birgit; Baroudi, Olfa; Mdimegh, Imen; Omran, Ines; Charradi, Khaoula; Bouzayene, Hssan; Benammar-Elgaaïed, Amel; Lohmann, Dietmar R. (2014)
Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults
Experimental eye research 124, S. 48–55. https://doi.org/10.1016/j.exer.2014.04.013.

Balliu, Brunilda; Würtz, Rolf P.; Horsthemke, Bernhard; Wieczorek, Dagmar; Böhringer, Stefan (2014)
Classification and visualization based on derived image features: application to genetic syndromes
PloS one 9 (11), e109033. https://doi.org/10.1371/journal.pone.0109033.

Boenigk, Jens; Beisser, Daniela; Zimmermann, Sonja; Bock, Christina; Jakobi, Jurij; Grabner, Daniel; Groβmann, Lars; Rahmann, Sven; Barcikowski, Stephan; Sures, Bernd (2014)
Effects of silver nitrate and silver nanoparticles on a planktonic community: general trends after short-term exposure
PloS one 9 (4), e95340. https://doi.org/10.1371/journal.pone.0095340.

Borck, Guntram; Vries, Liat de; Wu, Hsin-Jung; Smirin-Yosef, Pola; Nürnberg, Gudrun; Lagovsky, Irina; Ishida, Luis Henrique; Thierry, Patrick; Wieczorek, Dagmar; Nürnberg, Peter; Foley, John; Kubisch, Christian; Basel-Vanagaite, Lina (2014)
Homozygous truncating PTPRF mutation causes athelia
Hum Genet 133 (8), S. 1041–1047. https://doi.org/10.1007/s00439-014-1445-1.

Buiting, Karin; Cassidy, Suzanne B.; Driscoll, Daniel J.; Gillessen-Kaesbach, Gabriele; Kanber, Deniz; Tauber, Maithé; Schwinger, Eberhard; Horsthemke, Bernhard (2014)
Clinical utility gene card for: Prader-Willi Syndrome
European journal of human genetics : EJHG 22 (9). https://doi.org/10.1038/ejhg.2014.66.

Buiting, Karin; Di Donato, Nataliya; Beygo, Jasmin; Bens, Susanne; Hagen, Maja von der; Hackmann, Karl; Horsthemke, Bernhard (2014)
Clinical phenotypes of MAGEL2 mutations and deletions
Orphanet journal of rare diseases 9, S. 40. https://doi.org/10.1186/1750-1172-9-40.

Caliebe, Almuth; Richter, Julia; Ammerpohl, Ole; Kanber, Deniz; Beygo, Jasmin; Bens, Susanne; Haake, Andrea; Jüttner, Eva; Korn, Bernhard; Mackay, Deborah J. G.; Martin-Subero, José I.; Nagel, Inga; Sebire, Neil J.; Seidmann, Larissa; Vater, Inga; Kaisenberg, Constantin Sylvius von; Temple, I. Karen; Horsthemke, Bernhard; Buiting, Karin; Siebert, Reiner (2014)
A familial disorder of altered DNA-methylation
J Med Genet 51 (6), S. 407–412. https://doi.org/10.1136/jmedgenet-2013-102149.

Campeau, Philippe M.; Hennekam, Raoul C. (2014)
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome
American journal of medical genetics. Part C, Seminars in medical genetics 166C (3), S. 327–332. https://doi.org/10.1002/ajmg.c.31412.

Campeau, Philippe M.; Kasperaviciute, Dalia; Lu, James T.; Burrage, Lindsay C.; Kim, Choel; Hori, Mutsuki; Powell, Berkley R.; Stewart, Fiona; Félix, Têmis Maria; van den Ende, Jenneke; Wisniewska, Marzena; Kayserili, Hülya; Rump, Patrick; Nampoothiri, Sheela; Aftimos, Salim; Mey, Antje; Nair, Lal D. V.; Begleiter, Michael L.; Bie, Isabelle de; Meenakshi, Girish; Murray, Mitzi L.; Repetto, Gabriela M.; Golabi, Mahin; Blair, Edward; Male, Alison; Giuliano, Fabienne; Kariminejad, Ariana; Newman, William G.; Bhaskar, Sanjeev S.; Dickerson, Jonathan E.; Kerr, Bronwyn; Banka, Siddharth; Giltay, Jacques C.; Wieczorek, Dagmar; Tostevin, Anna; Wiszniewska, Joanna; Cheung, Sau Wai; Hennekam, Raoul C.; Gibbs, Richard A.; Lee, Brendan H.; Sisodiya, Sanjay M. (2014)
The genetic basis of DOORS syndrome: an exome-sequencing study
The Lancet Neurology 13 (1), S. 44–58. https://doi.org/10.1016/S1474-4422(13)70265-5.

Claussnitzer, Melina; Dankel, Simon N.; Klocke, Bernward; Grallert, Harald; Glunk, Viktoria; Berulava, Tea; Lee, Heekyoung; Oskolkov, Nikolay; Fadista, Joao; Ehlers, Kerstin; Wahl, Simone; Hoffmann, Christoph; Qian, Kun; Rönn, Tina; Riess, Helene; Müller-Nurasyid, Martina; Bretschneider, Nancy; Schroeder, Timm; Skurk, Thomas; Horsthemke, Bernhard; Spieler, Derek; Klingenspor, Martin; Seifert, Martin; Kern, Michael J.; Mejhert, Niklas; Dahlman, Ingrid; Hansson, Ola; Hauck, Stefanie M.; Blüher, Matthias; Arner, Peter; Groop, Leif; Illig, Thomas; Suhre, Karsten; Hsu, Yi-Hsiang; Mellgren, Gunnar; Hauner, Hans; Laumen, Helmut (2014)
Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms
Cell 156 (1-2), S. 343–358. https://doi.org/10.1016/j.cell.2013.10.058.

Czeschik, Johanna Christina; Albrecht, Beate; Kayserili, Hülya; Kuechler, Alma; Wagner, Nicholas; Wieczorek, Dagmar; Lüdecke, Hermann-Josef (2014)
A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome
Clinical dysmorphology 23 (2), S. 67–70. https://doi.org/10.1097/MCD.0000000000000035.

D‘Addario, Marianna; Kopczynski, Dominik; Baumbach, Jörg Ingo; Rahmann, Sven (2014)
A modular computational framework for automated peak extraction from ion mobility spectra
BMC bioinformatics 15, S. 25. https://doi.org/10.1186/1471-2105-15-25.

Dankert, Debora; Demond, Hannah; Trapphoff, Tom; Heiligentag, Martyna; Rademacher, Katrin; Eichenlaub-Ritter, Ursula; Horsthemke, Bernhard; Grümmer, Ruth (2014)
Pre- and postovulatory aging of murine oocytes affect the transcript level and poly(A) tail length of maternal effect genes
PloS one 9 (10), e108907. https://doi.org/10.1371/journal.pone.0108907.

Douzgou, S.; Clayton-Smith, J.; Gardner, S.; Day, R.; Griffiths, P.; Strong, K. (2014)
Dysmorphology at a distance: results of a web-based diagnostic service
European journal of human genetics : EJHG 22 (3), S. 327–332. https://doi.org/10.1038/ejhg.2013.137.

Eggermann, Thomas; Heilsberg, Ann-Kathrin; Bens, Susanne; Siebert, Reiner; Beygo, Jasmin; Buiting, Karin; Begemann, Matthias; Soellner, Lukas (2014)
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
Journal of molecular medicine (Berlin, Germany) 92 (7), S. 769–777. https://doi.org/10.1007/s00109-014-1141-6.

Ehmke, Nadja; Caliebe, Almuth; Koenig, Rainer; Kant, Sarina G.; Stark, Zornitza; Cormier-Daire, Valérie; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Hoff, Kirstin; Kawalia, Amit; Thiele, Holger; Altmüller, Janine; Fischer-Zirnsak, Björn; Knaus, Alexej; Zhu, Na; Heinrich, Verena; Huber, Celine; Harabula, Izabela; Spielmann, Malte; Horn, Denise; Kornak, Uwe; Hecht, Jochen; Krawitz, Peter M.; Nürnberg, Peter; Siebert, Reiner; Manzke, Hermann; Mundlos, Stefan (2014)
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome
American journal of human genetics 95 (6), S. 763–770. https://doi.org/10.1016/j.ajhg.2014.11.004.

Grosser, Christian; Neumann, Lisa; Horsthemke, Bernhard; Zeschnigk, Michael; van de Nes, Johannes (2014)
Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer‘s disease patients
Neuroscience letters 566, S. 241–246. https://doi.org/10.1016/j.neulet.2014.02.046.

Horn, Denise; Wieczorek, Dagmar; Metcalfe, Kay; Barić, Ivo; Paležac, Lidija; Cuk, Mario; Petković Ramadža, Danijela; Krüger, Ulrike; Demuth, Stephanie; Heinritz, Wolfram; Linden, Tobias; Koenig, Jens; Robinson, Peter N.; Krawitz, Peter (2014)
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
European journal of human genetics : EJHG 22 (6), S. 762–767. https://doi.org/10.1038/ejhg.2013.241.

Horsthemke, Bernhard (2014)
In brief: genomic imprinting and imprinting diseases
The Journal of pathology 232 (5), S. 485–487. https://doi.org/10.1002/path.4326.

Jones, Gabriela E.; Ostergaard, Pia; Moore, Anthony T.; Connell, Fiona C.; Williams, Denise; Quarrell, Oliver; Brady, Angela F.; Spier, Isabel; Hazan, Filiz; Moldovan, Oana; Wieczorek, Dagmar; Mikat, Barbara; Petit, Florence; Coubes, Christine; Saul, Robert A.; Brice, Glen; Gordon, Kristiana; Jeffery, Steve; Mortimer, Peter S.; Vasudevan, Pradeep C.; Mansour, Sahar (2014)
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR)
review of phenotype associated with KIF11 mutations
European journal of human genetics : EJHG 22 (7), S. 881–887. https://doi.org/10.1038/ejhg.2013.263.

Kehrmann, Jan; Tatura, Roman; Zeschnigk, Michael; Probst-Kepper, Michael; Geffers, Robert; Steinmann, Joerg; Buer, Jan (2014)
Impact of 5-aza-2‘-deoxycytidine and epigallocatechin-3-gallate for induction of human regulatory T cells
Immunology 142 (3), S. 384–395. https://doi.org/10.1111/imm.12261.

Köhler, Sebastian; Schoeneberg, Uwe; Czeschik, Johanna Christina; Doelken, Sandra C.; Hehir-Kwa, Jayne Y.; Ibn-Salem, Jonas; Mungall, Christopher J.; Smedley, Damian; Haendel, Melissa A.; Robinson, Peter N. (2014)
Clinical interpretation of CNVs with cross-species phenotype data
J Med Genet 51 (11), S. 766–772. https://doi.org/10.1136/jmedgenet-2014-102633.

Kosho, Tomoki; Okamoto, Nobuhiko (2014)
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
American journal of medical genetics. Part C, Seminars in medical genetics 166C (3), S. 262–275. https://doi.org/10.1002/ajmg.c.31407.

Köster, Johannes; Rahmann, Sven (2014)
Massively parallel read mapping on GPUs with the q-group index and PEANUT
PeerJ 2, e606. https://doi.org/10.7717/peerj.606.

Maerker, David A.; Zeschnigk, Michael; Nelles, Jasmin; Lohmann, Dietmar R.; Worm, Karl; Bosserhoff, Anja K.; Krupar, Rosemarie; Jägle, Herbert (2014)
BAP1 germline mutation in two first grade family members with uveal melanoma
Br J Ophthalmol 98 (2), S. 224–227. https://doi.org/10.1136/bjophthalmol-2013-303814.

Mirzaa, Ghayda; Parry, David A.; Fry, Andrew E.; Giamanco, Kristin A.; Schwartzentruber, Jeremy; Vanstone, Megan; Logan, Clare V.; Roberts, Nicola; Johnson, Colin A.; Singh, Shawn; Kholmanskikh, Stanislav S.; Adams, Carissa; Hodge, Rebecca D.; Hevner, Robert F.; Bonthron, David T.; Braun, Kees P. J.; Faivre, Laurence; Rivière, Jean-Baptiste; St-Onge, Judith; Gripp, Karen W.; Mancini, Grazia Ms; Pang, Ki; Sweeney, Elizabeth; van Esch, Hilde; Verbeek, Nienke; Wieczorek, Dagmar; Steinraths, Michelle; Majewski, Jacek; Boycot, Kym M.; Pilz, Daniela T.; Ross, M. Elizabeth; Dobyns, William B.; Sheridan, Eamonn G. (2014)
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Nature genetics 46 (5), S. 510–515. https://doi.org/10.1038/ng.2948.

Murray, Jennie E.; Bicknell, Louise S.; Yigit, Gökhan; Duker, Angela L.; van Kogelenberg, Margriet; Haghayegh, Sara; Wieczorek, Dagmar; Kayserili, Hülya; Albert, Michael H.; Wise, Carol A.; Brandon, January; Kleefstra, Tjitske; Warris, Adilia; van der Flier, Michiel; Bamforth, J. Steven; Doonanco, Kurston; Adès, Lesley; Ma, Alan; Field, Michael; Johnson, Diana; Shackley, Fiona; Firth, Helen; Woods, C. Geoffrey; Nürnberg, Peter; Gatti, Richard A.; Hurles, Matthew; Bober, Michael B.; Wollnik, Bernd; Jackson, Andrew P. (2014)
Extreme growth failure is a common presentation of ligase IV deficiency
Human mutation 35 (1), S. 76–85. https://doi.org/10.1002/humu.22461.

Neumann, Lisa C.; Feiner, Nathalie; Meyer, Axel; Buiting, Karin; Horsthemke, Bernhard (2014)
The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes
Genome biology and evolution 6 (2), S. 344–351. https://doi.org/10.1093/gbe/evu019.

Pietsch, Torsten; Wohlers, Inken; Goschzik, Tobias; Dreschmann, Verena; Denkhaus, Dorota; Dörner, Evelyn; Rahmann, Sven; Klein-Hitpass, Ludger (2014)
Supratentorial ependymomas of childhood carry C11orf95-RELA fusions leading to pathological activation of the NF-κB signaling pathway
Acta neuropathologica 127 (4), S. 609–611. https://doi.org/10.1007/s00401-014-1264-4.

Rademacher, Katrin; Schröder, Christopher; Kanber, Deniz; Klein-Hitpass, Ludger; Wallner, Stefan; Zeschnigk, Michael; Horsthemke, Bernhard (2014)
Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse
Genome biology and evolution 6 (7), S. 1579–1588. https://doi.org/10.1093/gbe/evu125.

Schaefer, Elise; Collet, Corinne; Genevieve, David; Vincent, Marie; Lohmann, Dietmar R.; Sanchez, Elodie; Bolender, Chantal; Eliot, Marie-Madeleine; Nürnberg, Gudrun; Passos-Bueno, Maria-Rita; Wieczorek, Dagmar; van Maldergem, Lionel; Doray, Bérénice (2014)
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome
Genetics in medicine : official journal of the American College of Medical Genetics 16 (9), S. 720–724. https://doi.org/10.1038/gim.2014.12.

Smedley, Damian; Köhler, Sebastian; Czeschik, Johanna Christina; Amberger, Joanna; Bocchini, Carol; Hamosh, Ada; Veldboer, Julian; Zemojtel, Tomasz; Robinson, Peter N. (2014)
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
Bioinformatics (Oxford, England) 30 (22), S. 3215–3222. https://doi.org/10.1093/bioinformatics/btu508.

Sousa, Sérgio B.; Hennekam, Raoul C. (2014)
Phenotype and genotype in Nicolaides-Baraitser syndrome
American journal of medical genetics. Part C, Seminars in medical genetics 166C (3), S. 302–314. https://doi.org/10.1002/ajmg.c.31409.

Tran Mau-Them, Frederic; Willems, Marjolaine; Albrecht, Beate; Sanchez, Elodie; Puechberty, Jacques; Endele, Sabine; Schneider, Anouck; Ruiz Pallares, Nathalie; Missirian, Chantal; Rivier, Francois; Girard, Manon; Holder, Muriel; Manouvrier, Sylvie; Touitou, Isabelle; Lefort, Genevieve; Sarda, Pierre; Moncla, Anne; Drunat, Severine; Wieczorek, Dagmar; Genevieve, David (2014)
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
European journal of human genetics : EJHG 22 (2), S. 289–292. https://doi.org/10.1038/ejhg.2013.113.

Wieczorek, Dagmar; Newman, William G.; Wieland, Thomas; Berulava, Tea; Kaffe, Maria; Falkenstein, Daniela; Beetz, Christian; Graf, Elisabeth; Schwarzmayr, Thomas; Douzgou, Sofia; Clayton-Smith, Jill; Daly, Sarah B.; Williams, Simon G.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Anderson, Beverley; O‘Sullivan, James; Boute, Odile; Gundlach, Jasmin; Czeschik, Johanna Christina; van Essen, Anthonie J.; Hazan, Filiz; Park, Sarah; Hing, Anne; Kuechler, Alma; Lohmann, Dietmar R.; Ludwig, Kerstin U.; Mangold, Elisabeth; Steenpaß, Laura; Zeschnigk, Michael; Lemke, Johannes R.; Lourenco, Charles Marques; Hehr, Ute; Prott, Eva-Christina; Waldenberger, Melanie; Böhmer, Anne C.; Horsthemke, Bernhard; O‘Keefe, Raymond T.; Meitinger, Thomas; Burn, John; Lüdecke, Hermann-Josef; Strom, Tim M. (2014)
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
American journal of human genetics 95 (6), S. 698–707. https://doi.org/10.1016/j.ajhg.2014.10.014.

Zweier, Christiane; Rittinger, Olaf; Bader, Ingrid; Berland, Siren; Cole, Trevor; Degenhardt, Franziska; Di Donato, Nataliya; Graul-Neumann, Luitgard; Hoyer, Juliane; Lynch, Sally Ann; Vlasak, Ingrid; Wieczorek, Dagmar (2014)
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome
American journal of medical genetics. Part C, Seminars in medical genetics 166C (3), S. 290–301. https://doi.org/10.1002/ajmg.c.31408.

2013

Allhoff, Manuel; Schönhuth, Alexander; Martin, Marcel; Costa, Ivan G.; Rahmann, Sven; Marschall, Tobias (2013)
Discovering motifs that induce sequencing errors
BMC bioinformatics 14 Suppl 5, S1. https://doi.org/10.1186/1471-2105-14-S5-S1.

Bens, Susanne; Haake, Andrea; Richter, Julia; Leohold, Judith; Kolarova, Julia; Vater, Inga; Riepe, Felix G.; Buiting, Karin; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Platzer, Konrad; Prawitt, Dirk; Caliebe, Almuth; Siebert, Reiner (2013)
Frequency and characterization of DNA methylation defects in children born SGA
European journal of human genetics : EJHG 21 (8), S. 838–843. https://doi.org/10.1038/ejhg.2012.262.

Berland, Siren; Appelbäck, Mia; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J. G.; Karen Temple, I.; Houge, Gunnar (2013)
Evidence for anticipation in Beckwith-Wiedemann syndrome
European journal of human genetics : EJHG 21 (12), S. 1344–1348. https://doi.org/10.1038/ejhg.2013.71.

Berulava, Tea; Ziehe, Matthias; Klein-Hitpass, Ludger; Mladenov, Emil; Thomale, Jürgen; Rüther, Ulrich; Horsthemke, Bernhard (2013)
FTO levels affect RNA modification and the transcriptome
European journal of human genetics : EJHG 21 (3), S. 317–323. https://doi.org/10.1038/ejhg.2012.168.

Beygo, Jasmin; Ammerpohl, Ole; Gritzan, Daniela; Heitmann, Melanie; Rademacher, Katrin; Richter, Julia; Caliebe, Almuth; Siebert, Reiner; Horsthemke, Bernhard; Buiting, Karin (2013)
Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects
PloS one 8 (10), e76953. https://doi.org/10.1371/journal.pone.0076953.

Beygo, Jasmin; Citro, Valentina; Sparago, Angela; Crescenzo, Agostina de; Cerrato, Flavia; Heitmann, Melanie; Rademacher, Katrin; Guala, Andrea; Enklaar, Thorsten; Anichini, Cecilia; Cirillo Silengo, Margherita; Graf, Notker; Prawitt, Dirk; Cubellis, Maria Vittoria; Horsthemke, Bernhard; Buiting, Karin; Riccio, Andrea (2013)
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
Human Molecular Genetics 22 (3), S. 544–557. https://doi.org/10.1093/hmg/dds465.

Bisschoff, Izak J.; Zeschnigk, Christine; Horn, Denise; Wellek, Brigitte; Rieß, Angelika; Wessels, Maja; Willems, Patrick; Jensen, Peter; Busche, Andreas; Bekkebraten, Jens; Chopra, Maya; Hove, Hanne Dahlgaard; Evers, Christina; Heimdal, Ketil; Kaiser, Ann-Sophie; Kunstmann, Erdmut; Robinson, Kristina Lagerstedt; Linné, Maja; Martin, Patricia; McGrath, James; Pradel, Winnie; Prescott, Katrina E.; Roesler, Bernd; Rudolf, Gorazd; Siebers-Renelt, Ulrike; Tyshchenko, Nataliya; Wieczorek, Dagmar; Wolff, Gerhard; Dobyns, William B.; Morris-Rosendahl, Deborah J. (2013)
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability
Human mutation 34 (1), S. 237–247. https://doi.org/10.1002/humu.22224.

Coupland, S. E.; Lake, S. L.; Zeschnigk, M.; Damato, B. E. (2013)
Molecular pathology of uveal melanoma
Eye (London, England) 27 (2), S. 230–242. https://doi.org/10.1038/eye.2012.255.

Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillén-Navarro, Encarna; Johnson, Diana S.; Koehler, Udo; López-González, Vanesa; Lüdecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Rieß, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Kuechler, Alma (2013)
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
Orphanet journal of rare diseases 8, S. 146. https://doi.org/10.1186/1750-1172-8-146.

Czeschik, Johanna Christina; Hehr, Ute; Hartmann, Britta; Lüdecke, Hermann-Josef; Rosenbaum, Thorsten; Schweiger, Bernd; Wieczorek, Dagmar (2013)
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome
European journal of medical genetics 56 (12), S. 689–694. https://doi.org/10.1016/j.ejmg.2013.09.014.

Czeschik, J. C.; Voigt, C.; Alanay, Y.; Albrecht, B.; Avci, S.; Fitzpatrick, D.; Goudie, D. R.; Hehr, U.; Hoogeboom, A. J.; Kayserili, H.; Simsek-Kiper, P. O.; Klein-Hitpass, L.; Kuechler, A.; López-González, V.; Martin, M.; Rahmann, S.; Schweiger, B.; Splitt, M.; Wollnik, B.; Lüdecke, H-J; Zeschnigk, M.; Wieczorek, D. (2013)
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
Hum Genet 132 (8), S. 885–898. https://doi.org/10.1007/s00439-013-1295-2.

Czeschik, Johanna Christina; Voigt, Claudia; Goecke, Timm O.; Lüdecke, Hermann-Josef; Wagner, Nicholas; Kuechler, Alma; Wieczorek, Dagmar (2013)
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
American journal of medical genetics. Part A 161A (2), S. 295–300. https://doi.org/10.1002/ajmg.a.35735.

Dikow, Nicola; Maas, Bianca; Gaspar, Harald; Kreiss-Nachtsheim, Martina; Engels, Hartmut; Kuechler, Alma; Garbes, Lutz; Netzer, Christian; Neuhann, Teresa M.; Koehler, Udo; Casteels, Kristina; Devriendt, Koen; Janssen, Johannes W. G.; Jauch, Anna; Hinderhofer, Katrin; Moog, Ute (2013)
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
American journal of medical genetics. Part A 161A (9), S. 2158–2166. https://doi.org/10.1002/ajmg.a.36046.

Freunscht, Inga; Popp, Bernt; Blank, Rainer; Endele, Sabine; Moog, Ute; Petri, Holger; Prott, Eva-Christina; Reis, Andre; Rübo, Jochen; Zabel, Bernhard; Zenker, Martin; Hebebrand, Johannes; Wieczorek, Dagmar (2013)
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
Behavioral and brain functions : BBF 9, S. 20. https://doi.org/10.1186/1744-9081-9-20.

Goubau, Christophe; Devriendt, Koen; van der Aa, Nathalie; Crepel, An; Wieczorek, Dagmar; Kleefstra, Tjitske; Willemsen, Marjolein H.; Rauch, Anita; Tzschach, Andreas; Ravel, Thomy de; Leemans, Peter; van Geet, Chris; Buyse, Gunnar; Freson, Kathleen (2013)
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12
European journal of human genetics : EJHG 21 (12), S. 1349–1355. https://doi.org/10.1038/ejhg.2013.86.

Grasemann, Corinna; Schündeln, Michael M.; Hövel, Matthias; Schweiger, Bernd; Bergmann, Christoph; Herrmann, Ralf; Wieczorek, Dagmar; Zabel, Bernhard; Wieland, Regina; Hauffa, Berthold P. (2013)
Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget‘s disease
The Journal of clinical endocrinology and metabolism 98 (8), S. 3121–3126. https://doi.org/10.1210/jc.2013-1143.

Griewank, K. G.; Murali, R.; Schilling, B.; Scholz, S.; Sucker, A.; Song, M.; Süsskind, D.; Grabellus, F.; Zimmer, L.; Hillen, U.; Steuhl, K-P; Schadendorf, D.; Westekemper, H.; Zeschnigk, M. (2013)
TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours
British journal of cancer 109 (2), S. 497–501. https://doi.org/10.1038/bjc.2013.312.

Guilherme, Rs; Klein, E.; Hamid, Ab; Bhatt, S.; Volleth, M.; Polityko, A.; Kulpanovich, A.; Dufke, A.; Albrecht, B.; Morlot, S.; Brecevic, L.; Petersen, Mb; Manolakos, E.; Kosyakova, N.; Liehr, T. (2013)
Human Ring Chromosomes – New Insights for their Clinical Significance
Balkan journal of medical genetics : BJMG 16 (1), S. 13–20. https://doi.org/10.2478/bjmg-2013-0013.

Kanber, Deniz; Buiting, Karin; Roos, Christian; Gromoll, Jörg; Kaya, Sabine; Horsthemke, Bernhard; Lohmann, Dietmar (2013)
The origin of the RB1 imprint
PloS one 8 (11), e81502. https://doi.org/10.1371/journal.pone.0081502.

Künkele, Annette; Jurklies, Christine; Wieland, Regina; Lohmann, Dietmar; Bornfeld, Norbert; Eggert, Angelika; Schulte, Johannes H. (2013)
Chemoreduction improves eye retention in patients with retinoblastoma: a report from the German Retinoblastoma Reference Centre.
Br J Ophthalmol 97 (10), S. 1277–1283. https://doi.org/10.1136/bjophthalmol-2013-303452.

Martin, Marcel; Maßhöfer, Lars; Temming, Petra; Rahmann, Sven; Metz, Claudia; Bornfeld, Norbert; van de Nes, Johannes; Klein-Hitpass, Ludger; Hinnebusch, Alan G.; Horsthemke, Bernhard; Lohmann, Dietmar R.; Zeschnigk, Michael (2013)
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
Nature genetics 45 (8), S. 933–936. https://doi.org/10.1038/ng.2674.

Metz, C. H.; Lohmann, D.; Zeschnigk, M.; Bornfeld, N. (2013)
Aktuelles zur klinischen Bedeutung genetischer Veränderungen bei malignen Melanomen der Uvea
Klinische Monatsblatter fur Augenheilkunde 230 (7), S. 686–691. https://doi.org/10.1055/s-0033-1350628.

Metz, Claudia Hd; Scheulen, Max; Bornfeld, Norbert; Lohmann, Dietmar; Zeschnigk, Michael (2013)
Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanoma
Cancer medicine 2 (2), S. 208–215. https://doi.org/10.1002/cam4.61.

Nikkel, Sarah M.; Dauber, Andrew; Munnik, Sonja de; Connolly, Meghan; Hood, Rebecca L.; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J. M.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna Santos; Delaney, Louisa A.; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M. C.; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V. A. M.; Lacombe, Didier; Lee, Chung; Lo, Ivan F. M.; Lucas, Luiza S.; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S.; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen E. H.; Slavotinek, Anne; Temple, I. Karen; van der Burgt, Ineke; Vries, Bert B. A. de; Weisfeld-Adams, James D.; Whiteford, Margo L.; Wierczorek, Dagmar; Wit, Jan M.; Yee, Connie Fung On; Beaulieu, Chandree L.; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. (2013)
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Orphanet journal of rare diseases 8, S. 63. https://doi.org/10.1186/1750-1172-8-63.

Pflugfelder, Annette; Kochs, Corinna; Blum, Andreas; Capellaro, Marcus; Czeschik, Christina; Dettenborn, Therese; Dill, Dorothee; Dippel, Edgar; Eigentler, Thomas; Feyer, Petra; Follmann, Markus; Frerich, Bernhard; Ganten, Maria-Katharina; Gärtner, Jan; Gutzmer, Ralf; Hassel, Jessica; Hauschild, Axel; Hohenberger, Peter; Hübner, Jutta; Kaatz, Martin; Kleeberg, Ulrich R.; Kölbl, Oliver; Kortmann, Rolf-Dieter; Krause-Bergmann, Albrecht; Kurschat, Peter; Leiter, Ulrike; Link, Hartmut; Loquai, Carmen; Löser, Christoph; Mackensen, Andreas; Meier, Friedegund; Mohr, Peter; Möhrle, Matthias; Nashan, Dorothee; Reske, Sven; Rose, Christian; Sander, Christian; Satzger, Imke; Schiller, Meinhard; Schlemmer, Heinz-Peter; Strittmatter, Gerhard; Sunderkötter, Cord; Swoboda, Lothar; Trefzer, Uwe; Voltz, Raymond; Vordermark, Dirk; Weichenthal, Michael; Werner, Andreas; Wesselmann, Simone; Weyergraf, Ansgar J.; Wick, Wolfgang; Garbe, Claus; Schadendorf, Dirk (2013)
Malignant melanoma S3-guideline „diagnosis, therapy and follow-up of melanoma“
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 11 Suppl 6, 1-116, 1-126. https://doi.org/10.1111/ddg.12113_suppl.

Rahmann, Sven; Martin, Marcel; Schulte, Johannes H.; Köster, Johannes; Marschall, Tobias; Schramm, Alexander (2013)
Identifying transcriptional miRNA biomarkers by integrating high-throughput sequencing and real-time PCR data
Methods (San Diego, Calif.) 59 (1), S. 154–163. https://doi.org/10.1016/j.ymeth.2012.10.005.

Raizis, Anthony M.; van Mater, David; Aaltonen, Lauri A.; Lohmann, Dietmar; Cheale, Michelle S.; Bickley, Vivienne M.; George, Peter M.; Zhou, Yaolin; Rosoff, Philip M. (2013)
Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome
American journal of medical genetics. Part A 161A (5), S. 1096–1100. https://doi.org/10.1002/ajmg.a.35748.

Revencu, N.; Boon, L. M.; Dompmartin, A.; Rieu, P.; Busch, W. L.; Dubois, J.; Forzano, F.; van Hagen, J. M.; Halbach, S.; Kuechler, A.; Lachmeijer, A. M. A.; Lähde, J.; Russell, L.; Simola, K. O. J.; Mulliken, J. B.; Vikkula, M. (2013)
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth
Molecular syndromology 4 (4), S. 173–178. https://doi.org/10.1159/000349919.

Schilling, Bastian; Bielefeld, Nicola; Sucker, Antje; Hillen, Uwe; Zimmer, Lisa; Schadendorf, Dirk; Zeschnigk, Michael; Griewank, Klaus G. (2013)
Lack of SF3B1 R625 mutations in cutaneous melanoma
Diagnostic pathology 8, S. 87. https://doi.org/10.1186/1746-1596-8-87.

Schmidts, Miriam; Vodopiutz, Julia; Christou-Savina, Sonia; Cortés, Claudio R.; McInerney-Leo, Aideen M.; Emes, Richard D.; Arts, Heleen H.; Tüysüz, Beyhan; D‘Silva, Jason; Leo, Paul J.; Giles, Tom C.; Oud, Machteld M.; Harris, Jessica A.; Koopmans, Marije; Marshall, Mhairi; Elçioglu, Nursel; Kuechler, Alma; Bockenhauer, Detlef; Moore, Anthony T.; Wilson, Louise C.; Janecke, Andreas R.; Hurles, Matthew E.; Emmet, Warren; Gardiner, Brooke; Streubel, Berthold; Dopita, Belinda; Zankl, Andreas; Kayserili, Hülya; Scambler, Peter J.; Brown, Matthew A.; Beales, Philip L.; Wicking, Carol; Duncan, Emma L.; Mitchison, Hannah M. (2013)
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy
American journal of human genetics 93 (5), S. 932–944. https://doi.org/10.1016/j.ajhg.2013.10.003.

Schramm, Alexander; Köster, Johannes; Marschall, Tobias; Martin, Marcel; Schwermer, Melanie; Fielitz, Kathrin; Büchel, Gabriele; Barann, Matthias; Esser, Daniela; Rosenstiel, Philip; Rahmann, Sven; Eggert, Angelika; Schulte, Johannes H. (2013)
Next-generation RNA sequencing reveals differential expression of MYCN target genes and suggests the mTOR pathway as a promising therapy target in MYCN-amplified neuroblastoma
International journal of cancer 132 (3), E106-15. https://doi.org/10.1002/ijc.27787.

Steenpass, Laura; Kanber, Deniz; Hiber, Michaela; Buiting, Karin; Horsthemke, Bernhard; Lohmann, Dietmar (2013)
Human PPP1R26P1 functions as cis-repressive element in mouse Rb1
PloS one 8 (9), e74159. https://doi.org/10.1371/journal.pone.0074159.

Temming, P.; Eggert, A.; Bornfeld, N.; Sauerwein, W.; Göricke, S.; Lohmann, D. R. (2013)
Diagnose und behandlung des retinoblastoms: aktuelle konzepte zur sicheren tumorkontrolle bei erhalt des sehvermögens
Klinische Monatsblatter fur Augenheilkunde 230 (3), S. 232–242. https://doi.org/10.1055/s-0032-1328158.

Temming, Petra; Viehmann, Anja; Biewald, Eva; Lohmann, Dietmar R. (2013)
Sporadic unilateral retinoblastoma or first sign of bilateral disease?
Br J Ophthalmol 97 (4), S. 475–480. https://doi.org/10.1136/bjophthalmol-2012-302666.

Vergult, Sarah; Hoogeboom, A. Jeannette M.; Bijlsma, Emilia K.; Sante, Tom; Klopocki, Eva; Wilde, Bram de; Jongmans, Marjolijn; Thiel, Christian; Verheij, Joke B. G. M.; Perez-Aytes, Antonio; van Esch, Hilde; Kuechler, Alma; Barge-Schaapveld, Daniela Q. C. M.; Sznajer, Yves; Mortier, Geert; Menten, Björn (2013)
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
Genetics in medicine : official journal of the American College of Medical Genetics 15 (3), S. 195–202. https://doi.org/10.1038/gim.2012.120.

Voigt, Claudia; Mégarbané, André; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; Deimling, Florian von; Hehr, Andreas; Falkenberg Smeland, Marie; König, Rainer; Kuechler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, Willie; Riise Stensland, Hilde Monica Frostad; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G.; Lüdecke, Hermann-Josef; Wieczorek, Dagmar (2013)
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies – expanding the phenotypes associated with EFTUD2 mutations
Orphanet journal of rare diseases 8, S. 110. https://doi.org/10.1186/1750-1172-8-110.

Wang, Yongbo; Gogol-Döring, Andreas; Hu, Hao; Fröhler, Sebastian; Ma, Yunxia; Jens, Marvin; Maaskola, Jonas; Murakawa, Yasuhiro; Quedenau, Claudia; Landthaler, Markus; Kalscheuer, Vera; Wieczorek, Dagmar; Wang, Yang; Hu, Yuhui; Chen, Wei (2013)
Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation
EMBO molecular medicine 5 (9), S. 1431–1442. https://doi.org/10.1002/emmm.201302663.

Wieczorek, D. (2013)
Human facial dysostoses
Clinical genetics 83 (6), S. 499–510. https://doi.org/10.1111/cge.12123.

Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O.; Krajewska-Walasek, Malgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Mathieu Dramard, Michèle; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G. Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd (2013)
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Human Molecular Genetics 22 (25), S. 5121–5135. https://doi.org/10.1093/hmg/ddt366.

Zahnleiter, Diana; Uebe, Steffen; Ekici, Arif B.; Hoyer, Juliane; Wiesener, Antje; Wieczorek, Dagmar; Kunstmann, Erdmute; Reis, André; Doerr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian T. (2013)
Rare copy number variants are a common cause of short stature
PLoS genetics 9 (3), e1003365. https://doi.org/10.1371/journal.pgen.1003365.

Zariwala, Maimoona A.; Gee, Heon Yung; Kurkowiak, Małgorzata; Al-Mutairi, Dalal A.; Leigh, Margaret W.; Hurd, Toby W.; Hjeij, Rim; Dell, Sharon D.; Chaki, Moumita; Dougherty, Gerard W.; Adan, Mohamed; Spear, Philip C.; Esteve-Rudd, Julian; Loges, Niki T.; Rosenfeld, Margaret; Diaz, Katrina A.; Olbrich, Heike; Wolf, Whitney E.; Sheridan, Eamonn; Batten, Trevor F. C.; Halbritter, Jan; Porath, Jonathan D.; Kohl, Stefan; Lovric, Svjetlana; Hwang, Daw-Yang; Pittman, Jessica E.; Burns, Kimberlie A.; Ferkol, Thomas W.; Sagel, Scott D.; Olivier, Kenneth N.; Morgan, Lucy C.; Werner, Claudius; Raidt, Johanna; Pennekamp, Petra; Sun, Zhaoxia; Zhou, Weibin; Airik, Rannar; Natarajan, Sivakumar; Allen, Susan J.; Amirav, Israel; Wieczorek, Dagmar; Landwehr, Kerstin; Nielsen, Kim; Schwerk, Nicolaus; Sertic, Jadranka; Köhler, Gabriele; Washburn, Joseph; Levy, Shawn; Fan, Shuling; Koerner-Rettberg, Cordula; Amselem, Serge; Williams, David S.; Mitchell, Brian J.; Drummond, Iain A.; Otto, Edgar A.; Omran, Heymut; Knowles, Michael R.; Hildebrandt, Friedhelm (2013)
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
American journal of human genetics 93 (2), S. 336–345. https://doi.org/10.1016/j.ajhg.2013.06.007.

Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wieczorek, Dagmar (2013)
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
J Med Genet 50 (12), S. 838–847. https://doi.org/10.1136/jmedgenet-2013-101918.

2012

Abbasi-Moheb, Lia; Mertel, Sara; Gonsior, Melanie; Nouri-Vahid, Leyla; Kahrizi, Kimia; Cirak, Sebahattin; Wieczorek, Dagmar; Motazacker, M. Mahdi; Esmaeeli-Nieh, Sahar; Cremer, Kirsten; Weißmann, Robert; Tzschach, Andreas; Garshasbi, Masoud; Abedini, Seyedeh S.; Najmabadi, Hossein; Ropers, H. Hilger; Sigrist, Stephan J.; Kuss, Andreas W. (2012)
Mutations in NSUN2 cause autosomal-recessive intellectual disability
American journal of human genetics 90 (5), S. 847–855. https://doi.org/10.1016/j.ajhg.2012.03.021.

Allanson, Judith; Smith, Amanda; Hare, Heather; Albrecht, Beate; Bijlsma, Emilia; Dallapiccola, Bruno; Donti, Emilio; Fitzpatrick, David; Isidor, Bertrand; Lachlan, Katherine; Le Caignec, Cedric; Prontera, Paolo; Raas-Rothschild, Annick; Rogaia, Daniela; van Bon, Bregje; Aradhya, Swaroop; Crocker, Susan F.; Jarinova, Olga; McGowan-Jordan, Jean; Boycott, Kym; Bulman, Dennis; Fagerberg, Christina Ringmann (2012)
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
American journal of medical genetics. Part A 158A (9), S. 2091–2099. https://doi.org/10.1002/ajmg.a.35446.

Dagli, A.; Buiting, K.; Williams, C. A. (2012)
Molecular and Clinical Aspects of Angelman Syndrome
Molecular syndromology 2 (3-5), S. 100–112. https://doi.org/10.1159/000328837.

Deardorff, Matthew A.; Wilde, Jonathan J.; Albrecht, Melanie; Dickinson, Emma; Tennstedt, Stephanie; Braunholz, Diana; Mönnich, Maren; Yan, Yuqian; Xu, Weizhen; Gil-Rodríguez, María Concepcion; Clark, Dinah; Hakonarson, Hakon; Halbach, Sara; Michelis, Laura Daniela; Rampuria, Abhinav; Rossier, Eva; Spranger, Stephanie; van Maldergem, Lionel; Lynch, Sally Ann; Gillessen-Kaesbach, Gabriele; Lüdecke, Hermann-Josef; Ramsay, Robert G.; McKay, Michael J.; Krantz, Ian D.; Xu, Huiling; Horsfield, Julia A.; Kaiser, Frank J. (2012)
RAD21 mutations cause a human cohesinopathy
American journal of human genetics 90 (6), S. 1014–1027. https://doi.org/10.1016/j.ajhg.2012.04.019.

Eggermann, T.; Spengler, S.; Begemann, M.; Binder, G.; Buiting, K.; Albrecht, B.; Spranger, S. (2012)
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features
Clinical genetics 81 (3), S. 298–300. https://doi.org/10.1111/j.1399-0004.2011.01719.x.

Ghani-Kakhki, M.; Robinson, P. N.; Morlot, S.; Mitter, D.; Trimborn, M.; Albrecht, B.; Varon, R.; Sperling, K.; Neitzel, H. (2012)
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
Molecular syndromology 3 (1), S. 6–13. https://doi.org/10.1159/000338975.

Grasemann, Corinna; Devlin, Maureen J.; Rzeczkowska, Paulina A.; Herrmann, Ralf; Horsthemke, Bernhard; Hauffa, Berthold P.; Grynpas, Marc; Alm, Christina; Bouxsein, Mary L.; Palmert, Mark R. (2012)
Parental diabetes: the Akita mouse as a model of the effects of maternal and paternal hyperglycemia in wildtype offspring
PloS one 7 (11), e50210. https://doi.org/10.1371/journal.pone.0050210.

Hood, Rebecca L.; Lines, Matthew A.; Nikkel, Sarah M.; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Małgorzata J. M.; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S.; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L.; Quaio, Caio Robledo D. C.; Gomy, Israel; Bertola, Debora R.; Albrecht, Beate; Platzer, Konrad; McGillivray, George; Zou, Ruobing; McLeod, D. Ross; Chudley, Albert E.; Chodirker, Bernard N.; Marcadier, Janet; Majewski, Jacek; Bulman, Dennis E.; White, Susan M.; Boycott, Kym M. (2012)
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
American journal of human genetics 90 (2), S. 308–313. https://doi.org/10.1016/j.ajhg.2011.12.001.

Horsthemke, Bernhard (2012)
Waddington‘s epigenetic landscape and post-Darwinian biology
BioEssays : news and reviews in molecular, cellular and developmental biology 34 (8), S. 711–712. https://doi.org/10.1002/bies.201200038.

Hoyer, Juliane; Ekici, Arif B.; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Göhring, Ina; Zink, Alexander M.; Rappold, Gudrun; Schröck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, André (2012)
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
American journal of human genetics 90 (3), S. 565–572. https://doi.org/10.1016/j.ajhg.2012.02.007.

Huang, Lingli; Jolly, Lachlan A.; Willis-Owen, Saffron; Gardner, Alison; Kumar, Raman; Douglas, Evelyn; Shoubridge, Cheryl; Wieczorek, Dagmar; Tzschach, Andreas; Cohen, Monika; Hackett, Anna; Field, Michael; Froyen, Guy; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Corbett, Mark A.; Gecz, Jozef (2012)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
American journal of human genetics 91 (4), S. 694–702. https://doi.org/10.1016/j.ajhg.2012.08.011.

Kloosterman, Wigard P.; Tavakoli-Yaraki, Masoumeh; van Roosmalen, Markus J.; van Binsbergen, Ellen; Renkens, Ivo; Duran, Karen; Ballarati, Lucia; Vergult, Sarah; Giardino, Daniela; Hansson, Kerstin; Ruivenkamp, Claudia A. L.; Jager, Myrthe; van Haeringen, Arie; Ippel, Elly F.; Haaf, Thomas; Passarge, Eberhard; Hochstenbach, Ron; Menten, Björn; Larizza, Lidia; Guryev, Victor; Poot, Martin; Cuppen, Edwin (2012)
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
Cell reports 1 (6), S. 648–655. https://doi.org/10.1016/j.celrep.2012.05.009.

Kuechler, A.; Hentschel, J.; Kurth, I.; Stephan, B.; Prott, E-C; Schweiger, B.; Schuster, A.; Wieczorek, D.; Lüdecke, H-J (2012)
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature
Molecular syndromology 3 (5), S. 223–229. https://doi.org/10.1159/000343746.

Kuehnen, Peter; Mischke, Mona; Wiegand, Susanna; Sers, Christine; Horsthemke, Bernhard; Lau, Susanne; Keil, Thomas; Lee, Young-Ae; Grueters, Annette; Krude, Heiko (2012)
An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity
PLoS genetics 8 (3), e1002543. https://doi.org/10.1371/journal.pgen.1002543.

Lines, Matthew A.; Huang, Lijia; Schwartzentruber, Jeremy; Douglas, Stuart L.; Lynch, Danielle C.; Beaulieu, Chandree; Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Gener, Blanca; Gillessen-Kaesbach, Gabriele; Nava, Caroline; Baujat, Geneviève; Horn, Denise; Kini, Usha; Caliebe, Almuth; Alanay, Yasemin; Utine, Gulen Eda; Lev, Dorit; Kohlhase, Jürgen; Grix, Arthur W.; Lohmann, Dietmar R.; Hehr, Ute; Böhm, Detlef; Majewski, Jacek; Bulman, Dennis E.; Wieczorek, Dagmar; Boycott, Kym M. (2012)
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
American journal of human genetics 90 (2), S. 369–377. https://doi.org/10.1016/j.ajhg.2011.12.023.

Longoni, Mauro; Lage, Kasper; Russell, Meaghan K.; Loscertales, Maria; Abdul-Rahman, Omar A.; Baynam, Gareth; Bleyl, Steven B.; Brady, Paul D.; Breckpot, Jeroen; Chen, Chih P.; Devriendt, Koenraad; Gillessen-Kaesbach, Gabriele; Grix, Arthur W.; Rope, Alan F.; Shimokawa, Osamu; Strauss, Bernarda; Wieczorek, Dagmar; Zackai, Elaine H.; Coletti, Caroline M.; Maalouf, Faouzi I.; Noonan, Kristin M.; Park, Ji H.; Tracy, Adam A.; Lee, Charles; Donahoe, Patricia K.; Pober, Barbara R. (2012)
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
American journal of medical genetics. Part A 158A (12), S. 3148–3158. https://doi.org/10.1002/ajmg.a.35665.

Neumann, Lisa C.; Markaki, Yolanda; Mladenov, Emil; Hoffmann, Daniel; Buiting, Karin; Horsthemke, Bernhard (2012)
The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein
Human Molecular Genetics 21 (18), S. 4038–4048. https://doi.org/10.1093/hmg/dds228.

Rainger, Joe; Bengani, Hemant; Campbell, Leigh; Anderson, Eve; Sokhi, Kishan; Lam, Wayne; Riess, Angelika; Ansari, Morad; Smithson, Sarah; Lees, Melissa; Mercer, Catherine; McKenzie, Kathryn; Lengfeld, Tobias; Gener Querol, Blanca; Branney, Peter; McKay, Stewart; Morrison, Harris; Medina, Bethan; Robertson, Morag; Kohlhase, Jürgen; Gordon, Colin; Kirk, Jean; Wieczorek, Dagmar; Fitzpatrick, David R. (2012)
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
Human Molecular Genetics 21 (18), S. 3969–3983. https://doi.org/10.1093/hmg/dds218.

Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Röpke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T.; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B.; Zink, Alexander M.; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schröck, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, André; Strom, Tim M. (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. The Lancet 380 (9854), S. 1674–1682. https://doi.org/10.1016/S0140-6736(12)61480-9.

Rivière, Jean-Baptiste; Mirzaa, Ghayda M.; O‘Roak, Brian J.; Beddaoui, Margaret; Alcantara, Diana; Conway, Robert L.; St-Onge, Judith; Schwartzentruber, Jeremy A.; Gripp, Karen W.; Nikkel, Sarah M.; Worthylake, Thea; Sullivan, Christopher T.; Ward, Thomas R.; Butler, Hailly E.; Kramer, Nancy A.; Albrecht, Beate; Armour, Christine M.; Armstrong, Linlea; Caluseriu, Oana; Cytrynbaum, Cheryl; Drolet, Beth A.; Innes, A. Micheil; Lauzon, Julie L.; Lin, Angela E.; Mancini, Grazia M. S.; Meschino, Wendy S.; Reggin, James D.; Saggar, Anand K.; Lerman-Sagie, Tally; Uyanik, Gökhan; Weksberg, Rosanna; Zirn, Birgit; Beaulieu, Chandree L.; Majewski, Jacek; Bulman, Dennis E.; O‘Driscoll, Mark; Shendure, Jay; Graham, John M.; Boycott, Kym M.; Dobyns, William B. (2012)
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Nature genetics 44 (8), S. 934–940. https://doi.org/10.1038/ng.2331.

Schlump, Jan-Ulrich; Stein, Anja; Hehr, Ute; Karen, Tanja; Möller-Hartmann, Claudia; Elcioglu, Nursel H.; Bogdanova, Nadja; Woike, Hartmut Fritz; Lohmann, Dietmar R.; Felderhoff-Mueser, Ursula; Linz, Annette; Wieczorek, Dagmar (2012)
Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature
European journal of pediatrics 171 (11), S. 1611–1618. https://doi.org/10.1007/s00431-012-1776-7.

Tatura, Roman; Zeschnigk, Michael; Adamzik, Michael; Probst-Kepper, Michael; Buer, Jan; Kehrmann, Jan (2012)
Quantification of regulatory T cells in septic patients by real-time PCR-based methylation assay and flow cytometry
PloS one 7 (11), e49962. https://doi.org/10.1371/journal.pone.0049962.

Temming, Petra; Corson, Timothy W.; Lohmann, Dietmar R. (2012)
Retinoblastoma tumorigenesis: genetic and epigenetic changes walk hand in hand
Future oncology (London, England) 8 (5), S. 525–528. https://doi.org/10.2217/fon.12.41.

Temming, P.; Lohmann, D.; Bornfeld, N.; Sauerwein, W.; Goericke, S. L.; Eggert, A. (2012)
Current concepts for diagnosis and treatment of retinoblastoma in Germany: aiming for safe tumor control and vision preservation
Klinische Padiatrie 224 (6), S. 339–347. https://doi.org/10.1055/s-0032-1327563.

Thomas, S.; Pütter, C.; Weber, S.; Bornfeld, N.; Lohmann, D. R.; Zeschnigk, M. (2012)
Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study
British journal of cancer 106 (6), S. 1171–1176. https://doi.org/10.1038/bjc.2012.54.

van Houdt, Jeroen K. J.; Nowakowska, Beata Anna; Sousa, Sérgio B.; van Schaik, Barbera D. C.; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A.; van den Boogaard, Marie-José H.; Bottani, Armand; Castori, Marco; Cormier-Daire, Valérie; Deardorff, Matthew A.; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D.; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Kuechler, Alma; Lines, Matthew A.; Maas, Saskia; Macdermot, Kay D.; McKee, Shane; Magee, Alex; Man, Stella A. de; Moreau, Yves; Morice-Picard, Fanny; Obersztyn, Ewa; Pilch, Jacek; Rosser, Elizabeth; Shannon, Nora; Stolte-Dijkstra, Irene; van Dijck, Patrick; Vilain, Catheline; Vogels, Annick; Wakeling, Emma; Wieczorek, Dagmar; Wilson, Louise; Zuffardi, Orsetta; van Kampen, Antoine H. C.; Devriendt, Koenraad; Hennekam, Raoul; Vermeesch, Joris Robert (2012)
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Nature genetics 44 (4), 445-9, S1. https://doi.org/10.1038/ng.1105.

2011

Albayrak, Ozgür; Albrecht, Beate; Scherag, Susann; Barth, Nikolaus; Hinney, Anke; Hebebrand, Johannes (2011)
Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder
European journal of pharmacology 660 (1), S. 165–170. https://doi.org/10.1016/j.ejphar.2010.12.023.

Arweiler-Harbeck, Diana; Horsthemke, Bernhard; Jahnke, Klaus; Hennies, Hans Christian (2011)
Genetic aspects of familial Ménière‘s disease
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 32 (4), S. 695–700. https://doi.org/10.1097/MAO.0b013e318216074a.

Begemann, M.; Spengler, S.; Kanber, D.; Haake, A.; Baudis, M.; Leisten, I.; Binder, G.; Markus, S.; Rupprecht, T.; Segerer, H.; Fricke-Otto, S.; Mühlenberg, R.; Siebert, R.; Buiting, K.; Eggermann, T. (2011)
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
Clinical genetics 80 (1), S. 83–88. https://doi.org/10.1111/j.1399-0004.2010.01514.x.

Bittner, Ann-Kathrin; Horsthemke, Bernhard; Winterhager, Elke; Grümmer, Ruth (2011)
Hormone-induced delayed ovulation affects early embryonic development. Fertility and sterility 95 (7), S. 2390–2394. https://doi.org/10.1016/j.fertnstert.2011.03.022.

Boehringer, Stefan; Guenther, Manuel; Sinigerova, Stella; Wurtz, Rolf P.; Horsthemke, Bernhard; Wieczorek, Dagmar (2011)
Automated syndrome detection in a set of clinical facial photographs
American journal of medical genetics. Part A 155A (9), S. 2161–2169. https://doi.org/10.1002/ajmg.a.34157.

Boehringer, Stefan; van der Lijn, Fedde; Liu, Fan; Günther, Manuel; Sinigerova, Stella; Nowak, Stefanie; Ludwig, Kerstin U.; Herberz, Ruth; Klein, Stefan; Hofman, Albert; Uitterlinden, Andre G.; Niessen, Wiro J.; Breteler, Monique M. B.; van der Lugt, Aad; Würtz, Rolf P.; Nöthen, Markus M.; Horsthemke, Bernhard; Wieczorek, Dagmar; Mangold, Elisabeth; Kayser, Manfred (2011)
Genetic determination of human facial morphology: links between cleft-lips and normal variation
European journal of human genetics : EJHG 19 (11), S. 1192–1197. https://doi.org/10.1038/ejhg.2011.110.

Bornfeld, N.; Holdt, M.; Biewald, E.; Wieland, R.; Eggert, A.; Göricke, S.; Lohmann, D. (2011)
Neue Entwicklungen zur Genetik und Therapie des Retinoblastoms
Klinische Monatsblatter fur Augenheilkunde 228 (7), S. 593–598. https://doi.org/10.1055/s-0031-1281587.

Callewaert, Bert; Renard, Marjolijn; Hucthagowder, Vishwanathan; Albrecht, Beate; Hausser, Ingrid; Blair, Edward; Dias, Cristina; Albino, Alice; Wachi, Hiroshi; Sato, Fumiaki; Mecham, Robert P.; Loeys, Bart; Coucke, Paul J.; Paepe, Anne de; Urban, Zsolt (2011)
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
Human mutation 32 (4), S. 445–455. https://doi.org/10.1002/humu.21462.

Dauwerse, Johannes G.; Dixon, Jill; Seland, Saskia; Ruivenkamp, Claudia A. L.; van Haeringen, Arie; Hoefsloot, Lies H.; Peters, Dorien J. M.; Boers, Agnes Clement-de; Daumer-Haas, Cornelia; Maiwald, Robert; Zweier, Christiane; Kerr, Bronwyn; Cobo, Ana M.; Toral, Joaquín F.; Hoogeboom, A. Jeannette M.; Lohmann, Dietmar R.; Hehr, Ute; Dixon, Michael J.; Breuning, Martijn H.; Wieczorek, Dagmar (2011)
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Nature genetics 43 (1), S. 20–22. https://doi.org/10.1038/ng.724.

Eggermann, Thomas; Buiting, Karin; Temple, I. Karen (2011)
Clinical utility gene card for: Silver-Russell syndrome
European journal of human genetics : EJHG 19 (3). https://doi.org/10.1038/ejhg.2010.202.

Grasshoff, Ute; Bonin, Michael; Goehring, Ina; Ekici, Arif; Dufke, Andreas; Cremer, Kirsten; Wagner, Nicholas; Rossier, Eva; Jauch, Anna; Walter, Michael; Bauer, Claudia; Bauer, Peter; Horber, Karl; Beck-Woedl, Stefanie; Wieczorek, Dagmar (2011)
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
European journal of human genetics : EJHG 19 (5), S. 507–512. https://doi.org/10.1038/ejhg.2010.226.

Gregor, Anne; Albrecht, Beate; Bader, Ingrid; Bijlsma, Emilia K.; Ekici, Arif B.; Engels, Hartmut; Hackmann, Karl; Horn, Denise; Hoyer, Juliane; Klapecki, Jakub; Kohlhase, Jürgen; Maystadt, Isabelle; Nagl, Sandra; Prott, Eva; Tinschert, Sigrid; Ullmann, Reinhard; Wohlleber, Eva; Woods, Geoffrey; Reis, André; Rauch, Anita; Zweier, Christiane (2011)
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
BMC Med Genet 12, S. 106. https://doi.org/10.1186/1471-2350-12-106.

Gustmann, Sebastian; Klein-Hitpass, Ludger; Stephan, Harald; Weber, Susanne; Bornfeld, Norbert; Kaulisch, Marc; Lohmann, Dietmar R.; Dünker, Nicole (2011)
Loss at chromosome arm 16q in retinoblastoma: confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region
Genes, chromosomes & cancer 50 (5), S. 327–337. https://doi.org/10.1002/gcc.20857.

Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele; Goodship, Judith; Hove, Hanne; Kjaergaard, Susanne; Kemp, Helena; Kingston, Helen; Lunt, Peter; Mansour, Sahar; McGowan, Ruth; Metcalfe, Kay; Murdoch-Davis, Catherine; Ray, Mary; Rio, Marlène; Smithson, Sarah; Tolmie, John; Turnpenny, Peter; van Bon, Bregje; Wieczorek, Dagmar; Newbury-Ecob, Ruth (2011)
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
European journal of human genetics : EJHG 19 (5), S. 513–519. https://doi.org/10.1038/ejhg.2010.234.

He, Huiling; Liyanarachchi, Sandya; Akagi, Keiko; Nagy, Rebecca; Li, Jingfeng; Dietrich, Rosemary C.; Li, Wei; Sebastian, Nikhil; Wen, Bernard; Xin, Baozhong; Singh, Jarnail; Yan, Pearlly; Alder, Hansjuerg; Haan, Eric; Wieczorek, Dagmar; Albrecht, Beate; Puffenberger, Erik; Wang, Heng; Westman, Judith A.; Padgett, Richard A.; Symer, David E.; La Chapelle, Albert de (2011)
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
Science (New York, N.Y.) 332 (6026), S. 238–240. https://doi.org/10.1126/science.1200587.

Hoischen, Alexander; van Bon, Bregje W. M.; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E. L. M.; Vries, Petra de; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F.; Newbury-Ecob, Ruth; Kjaergaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M.; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A.; Brunner, Han G.; Vries, Bert B. B. A. de (2011)
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Nature genetics 43 (8), S. 729–731. https://doi.org/10.1038/ng.868.

Horsthemke, Bernhard; Wawrzik, Michaela; Gross, Stephanie; Lich, Christina; Sauer, Birgitta; Rost, Imma; Krasemann, Ernst; Kosyakova, Nadezda; Liehr, Thomas; Weise, Anja; Dybowski, J. Nikolaj; Hoffmann, Daniel; Wieczorek, Dagmar (2011)
Parental origin and functional relevance of a de novo UBE3A variant
European journal of medical genetics 54 (1), S. 19–24. https://doi.org/10.1016/j.ejmg.2010.09.005.

Kalay, Ersan; Yigit, Gökhan; Aslan, Yakup; Brown, Karen E.; Pohl, Esther; Bicknell, Louise S.; Kayserili, Hülya; Li, Yun; Tüysüz, Beyhan; Nürnberg, Gudrun; Kiess, Wieland; Koegl, Manfred; Baessmann, Ingelore; Buruk, Kurtulus; Toraman, Bayram; Kayipmaz, Saadettin; Kul, Sibel; Ikbal, Mevlit; Turner, Daniel J.; Taylor, Martin S.; Aerts, Jan; Scott, Carol; Milstein, Karen; Dollfus, Helene; Wieczorek, Dagmar; Brunner, Han G.; Hurles, Matthew; Jackson, Andrew P.; Rauch, Anita; Nürnberg, Peter; Karagüzel, Ahmet; Wollnik, Bernd (2011)
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
Nature genetics 43 (1), S. 23–26. https://doi.org/10.1038/ng.725.

Kortüm, F.; Chyrek, M.; Fuchs, S.; Albrecht, B.; Gillessen-Kaesbach, G.; Mütze, U.; Seemanova, E.; Tinschert, S.; Wieczorek, D.; Rosenberger, G.; Kutsche, K. (2011)
Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies
Molecular syndromology 2 (1), S. 27–34. https://doi.org/10.1159/000334317.

Kortüm, Fanny; Das, Soma; Flindt, Max; Morris-Rosendahl, Deborah J.; Stefanova, Irina; Goldstein, Amy; Horn, Denise; Klopocki, Eva; Kluger, Gerhard; Martin, Peter; Rauch, Anita; Roumer, Agathe; Saitta, Sulagna; Walsh, Laurence E.; Wieczorek, Dagmar; Uyanik, Gökhan; Kutsche, Kerstin; Dobyns, William B. (2011)
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
J Med Genet 48 (6), S. 396–406. https://doi.org/10.1136/jmg.2010.087528.

Kuechler, Alma; Buysse, Karen; Clayton-Smith, Jill; Le Caignec, Cédric; David, Albert; Engels, Hartmut; Kohlhase, Jürgen; Mari, Francesca; Mortier, Geert; Renieri, Alessandra; Wieczorek, Dagmar (2011)
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
American journal of medical genetics. Part A 155A (8), S. 1857–1864. https://doi.org/10.1002/ajmg.a.34072.

Kuss, Andreas Walter; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Behjati, Farkhondeh; Darvish, Hossein; Abbasi-Moheb, Lia; Puettmann, Lucia; Zecha, Agnes; Weissmann, Robert; Hu, Hao; Mohseni, Marzieh; Abedini, Seyedeh Sedigheh; Rajab, Anna; Hertzberg, Christoph; Wieczorek, Dagmar; Ullmann, Reinhard; Ghasemi-Firouzabadi, Saghar; Banihashemi, Susan; Arzhangi, Sanaz; Hadavi, Valeh; Bahrami-Monajemi, Gholamreza; Kasiri, Mahboubeh; Falah, Masoumeh; Nikuei, Pooneh; Dehghan, Atefeh; Sobhani, Masoumeh; Jamali, Payman; Ropers, Hans Hilger; Najmabadi, Hossein (2011)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
Hum Genet 129 (2), S. 141–148. https://doi.org/10.1007/s00439-010-0907-3.

Li, Yun; Bögershausen, Nina; Alanay, Yasemin; Simsek Kiper, Pelin Ozlem; Plume, Nadine; Keupp, Katharina; Pohl, Esther; Pawlik, Barbara; Rachwalski, Martin; Milz, Esther; Thoenes, Michaela; Albrecht, Beate; Prott, Eva-Christina; Lehmkühler, Margret; Demuth, Stephanie; Utine, Gülen Eda; Boduroglu, Koray; Frankenbusch, Katja; Borck, Guntram; Gillessen-Kaesbach, Gabriele; Yigit, Gökhan; Wieczorek, Dagmar; Wollnik, Bernd (2011)
A mutation screen in patients with Kabuki syndrome
Hum Genet 130 (6), S. 715–724. https://doi.org/10.1007/s00439-011-1004-y.

Lohmann, Dietmar; Gallie, Brenda; Dommering, Charlotte; Gauthier-Villars, Marion (2011)
Clinical utility gene card for: retinoblastoma
European journal of human genetics : EJHG 19 (3). https://doi.org/10.1038/ejhg.2010.200.

Mitter, Diana; Ullmann, Reinhard; Muradyan, Artur; Klein-Hitpass, Ludger; Kanber, Deniz; Ounap, Katrin; Kaulisch, Marc; Lohmann, Dietmar (2011)
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
European journal of human genetics : EJHG 19 (9), S. 947–958. https://doi.org/10.1038/ejhg.2011.58.

Narożańska, E.; Jasińska-Myga, B.; Sitek, E. J.; Robowski, P.; Brockhuis, B.; Lass, P.; Dubaniewicz, M.; Wieczorek, D.; Baker, M.; Rademakers, R.; Wszolek, Z. K.; Sławek, J. (2011)
Frontotemporal dementia and parkinsonism linked to chromosome 17–the first Polish family
European journal of neurology 18 (3), S. 535–537. https://doi.org/10.1111/j.1468-1331.2010.03107.x.

Raap, U.; Wieczorek, D.; Schenck, F.; Kapp, A.; Wedi, B. (2011)
The basophil activation test is a helpful diagnostic tool in anaphylaxis to sesame with false-negative specific IgE and negative skin test
Allergy 66 (11), S. 1497–1499. https://doi.org/10.1111/j.1398-9995.2011.02673.x.

Rivera-Brugués, Nuria; Albrecht, Beate; Wieczorek, Dagmar; Schmidt, Heinrich; Keller, Thomas; Göhring, Ina; Ekici, Arif B.; Tzschach, Andreas; Garshasbi, Masoud; Franke, Kathlen; Klopp, Norman; Wichmann, H-Erich; Meitinger, Thomas; Strom, Tim M.; Hempel, Maja (2011)
Cohen syndrome diagnosis using whole genome arrays
J Med Genet 48 (2), S. 136–140. https://doi.org/10.1136/jmg.2010.082206.

Rué, Marjory; Lüdecke, Hermann-Josef; Sibon, Igor; Richez, Christophe; Taine, Laurence; Foubert-Samier, Alexandra; Arveiler, Benoit; Schaeverbeke, Thierry; Lacombe, Didier; Tison, François; Goizet, Cyril (2011)
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
European journal of medical genetics 54 (4), e405-8. https://doi.org/10.1016/j.ejmg.2011.04.001.

Sitek, Emilia J.; Sołtan, Witold; Wieczorek, Dariusz; Schinwelski, Michał; Robowski, Piotr; Reilmann, Ralf; Guzińska, Katarzyna; Harciarek, Michał; Krysa, Wioletta; Sławek, Jarosław (2011)
Self-awareness of motor dysfunction in patients with Huntington‘s disease in comparison to Parkinson‘s disease and cervical dystonia
Journal of the International Neuropsychological Society : JINS 17 (5), S. 788–795. https://doi.org/10.1017/S1355617711000725.

Staniek, Halina; Krejpcio, Zbigniew; Iwanik, Katarzyna; Szymusiak, Henryk; Wieczorek, Daria (2011)
Evaluation of the acute oral toxicity class of trinuclear chromium(III) glycinate complex in rat
Biological trace element research 143 (3), S. 1564–1575. https://doi.org/10.1007/s12011-011-8959-3.

Westekemper, H.; Freistuehler, M.; Anastassiou, G.; Nareyeck, G.; Zeschnigk, M.; Bornfeld, N.; Steuhl, K-P; Scheulen, M. E.; Hilger, R. A. (2011)
Chemosensitivity of conjunctival melanoma cell lines to chemotherapeutic agents
International journal of clinical pharmacology and therapeutics 49 (1), S. 78–80. https://doi.org/10.1007/s00417-012-2083-8

Wohlleber, Eva; Kirchhoff, Maria; Zink, Alexander M.; Kreiss-Nachtsheim, Martina; Küchler, Alma; Jepsen, Birgit; Kjaergaard, Susanne; Engels, Hartmut (2011)
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
European journal of medical genetics 54 (1), S. 67–72. https://doi.org/10.1016/j.ejmg.2010.09.012.

2010

Albrecht, Beate; Brouwer, Arjan P. de; Lefeber, Dirk J.; Cremer, Kirsten; Hausser, Ingrid; Rossen, Nick; Wortmann, Saskia B.; Wevers, Ron A.; Kornak, Uwe; Morava, Eva (2010)
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking
American journal of medical genetics. Part A 152A (11), S. 2916–2918. https://doi.org/10.1002/ajmg.a.33712.

Albrecht, B.; Buiting, K. (2010)
Prader-Willi-Syndrom und Angelman-Syndrom
medgen 22 (4), S. 392–398. https://doi.org/10.1007/s11825-010-0250-z.

Allanson, Judith E.; Bohring, Axel; Dörr, Helmuth-Guenther; Dufke, Andreas; Gillessen-Kaesbach, Gabrielle; Horn, Denise; König, Rainer; Kratz, Christian P.; Kutsche, Kerstin; Pauli, Silke; Raskin, Salmo; Rauch, Anita; Turner, Anne; Wieczorek, Dagmar; Zenker, Martin (2010)
The face of Noonan syndrome: Does phenotype predict genotype
American journal of medical genetics. Part A 152A (8), S. 1960–1966. https://doi.org/10.1002/ajmg.a.33518.

Bartsch, Oliver; Labonté, Janette; Albrecht, Beate; Wieczorek, Dagmar; Lechno, Stanislav; Zechner, Ulrich; Haaf, Thomas (2010)
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
American journal of medical genetics. Part A 152A (1), S. 181–184. https://doi.org/10.1002/ajmg.a.33153.

Béna, Frédérique; Gimelli, Stefania; Migliavacca, Eugenia; Brun-Druc, Nathalie; Buiting, Karin; Antonarakis, Stylianos E.; Sharp, Andrew J. (2010)
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
Human Molecular Genetics 19 (10), S. 1967–1973. https://doi.org/10.1093/hmg/ddq075.

Berulava, Tea; Horsthemke, Bernhard (2010)
Comment on: Jowett et al. (2010) Genetic variation at the FTO locus influences RBL2 gene expression. Diabetes;59:726-732
Diabetes 59 (7), e9; author reply e10. https://doi.org/10.2337/db10-0337.

Berulava, Tea; Horsthemke, Bernhard (2010)
The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels
European journal of human genetics : EJHG 18 (9), S. 1054–1056. https://doi.org/10.1038/ejhg.2010.71.

Buiting, Karin (2010)
Prader-Willi syndrome and Angelman syndrome
American journal of medical genetics. Part C, Seminars in medical genetics 154C (3), S. 365–376. https://doi.org/10.1002/ajmg.c.30273.

Buiting, Karin; Kanber, Deniz; Horsthemke, Bernhard; Lohmann, Dietmar (2010)
Imprinting of RB1 (the new kid on the block)
Briefings in functional genomics 9 (4), S. 347–353. https://doi.org/10.1093/bfgp/elq014.

D‘haene, B.; Nevado, J.; Pugeat, M.; Pierquin, G.; Lowry, R. B.; Reardon, W.; Delicado, A.; García-Miñaur, S.; Palomares, M.; Courtens, W.; Stefanova, M.; Wallace, S.; Watkins, W.; Shelling, A. N.; Wieczorek, D.; Veitia, R. A.; Paepe, A. de; Lapunzina, P.; Baere, E. de (2010)
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
Human mutation 31 (5), E1332-47. https://doi.org/10.1002/humu.21233.

Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortüm, Fanny; Fritsch, Angela; Pientka, Friederike K.; Hellenbroich, Yorck; Kalscheuer, Vera M.; Kohlhase, Jürgen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; Spiczak, Sarah von; Tönnies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, André; Wieczorek, Dagmar; van Maldergem, Lionel; Kutsche, Kerstin (2010)
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Nature genetics 42 (11), S. 1021–1026. https://doi.org/10.1038/ng.677.

Graul-Neumann, Luitgard M.; Kienitz, Tina; Robinson, Peter N.; Baasanjav, Sevjidmaa; Karow, Benjamin; Gillessen-Kaesbach, Gabriele; Fahsold, Raimund; Schmidt, Hartmut; Hoffmann, Katrin; Passarge, Eberhard (2010)
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3‘ terminus of the FBN1-gene
American journal of medical genetics. Part A 152A (11), S. 2749–2755. https://doi.org/10.1002/ajmg.a.33690.

Guettsches, Anne-Katrin; Kuechler, Alma; Gal, Andreas; Schmitz, Werner; Tegenthoff, Martin; Vorgerd, Matthias (2010)
Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy
Journal of neurology 257 (8), S. 1394–1395. https://doi.org/10.1007/s00415-010-5505-8.

Horsthemke, Bernhard (2010)
Mechanisms of imprint dysregulation
American journal of medical genetics. Part C, Seminars in medical genetics 154C (3), S. 321–328. https://doi.org/10.1002/ajmg.c.30269.

Irving, Melita D.; Buiting, Karin; Kanber, Deniz; Donaghue, Celia; Schulz, Reiner; Offiah, Amaka; Mohammed, Shehla N.; Oakey, Rebecca J. (2010)
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14
American journal of medical genetics. Part A 152A (8), S. 1942–1950. https://doi.org/10.1002/ajmg.a.33449.

Khandanpour, Cyrus; Thiede, Christian; Valk, Peter J. M.; Sharif-Askari, Ehssan; Nückel, Holger; Lohmann, Dietmar; Horsthemke, Bernhard; Siffert, Winfried; Neubauer, Andreas; Grzeschik, Karl-Heinz; Bloomfield, Clara D.; Marcucci, Guido; Maharry, Kati; Slovak, Marilyn L.; van der Reijden, Bert A.; Jansen, Joop H.; Schackert, Hans K.; Afshar, Khashayar; Schnittger, Susanne; Peeters, Justine K.; Kroschinsky, Frank; Ehninger, Gerhard; Lowenberg, Bob; Dührsen, Ulrich; Möröy, Tarik (2010)
A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia
Blood 115 (12), S. 2462–2472. https://doi.org/10.1182/blood-2009-08-239822.

Kobayashi, Tomoko; Aoki, Yoko; Niihori, Tetsuya; Cavé, Hélène; Verloes, Alain; Okamoto, Nobuhiko; Kawame, Hiroshi; Fujiwara, Ikuma; Takada, Fumio; Ohata, Takako; Sakazume, Satoru; Ando, Tatsuya; Nakagawa, Noriko; Lapunzina, Pablo; Meneses, Antonio G.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Kurosawa, Kenji; Mizuno, Seiji; Ohashi, Hirofumi; David, Albert; Philip, Nicole; Guliyeva, Afag; Narumi, Yoko; Kure, Shigeo; Tsuchiya, Shigeru; Matsubara, Yoichi (2010)
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Human mutation 31 (3), S. 284–294. https://doi.org/10.1002/humu.21187.

Kosubek, Anna; Klein-Hitpass, Ludger; Rademacher, Katrin; Horsthemke, Bernhard; Ryffel, Gerhart U. (2010)
Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potential
PloS one 5 (10), e13532. https://doi.org/10.1371/journal.pone.0013532.

Krawitz, Peter M.; Schweiger, Michal R.; Rödelsperger, Christian; Marcelis, Carlo; Kölsch, Uwe; Meisel, Christian; Stephani, Friederike; Kinoshita, Taroh; Murakami, Yoshiko; Bauer, Sebastian; Isau, Melanie; Fischer, Axel; Dahl, Andreas; Kerick, Martin; Hecht, Jochen; Köhler, Sebastian; Jäger, Marten; Grünhagen, Johannes; Condor, Birgit Jonske de; Doelken, Sandra; Brunner, Han G.; Meinecke, Peter; Passarge, Eberhard; Thompson, Miles D.; Cole, David E.; Horn, Denise; Roscioli, Tony; Mundlos, Stefan; Robinson, Peter N. (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Nature genetics 42 (10), S. 827–829. https://doi.org/10.1038/ng.653.

Kuechler, Amla; Hauffa, Berthold P.; Köninger, Angela; Kleinau, Gunnar; Albrecht, Beate; Horsthemke, Bernhard; Gromoll, Jörg (2010)
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
European journal of human genetics : EJHG 18 (6), S. 656–661. https://doi.org/10.1038/ejhg.2009.244.

Livingstone, E.; Caliebe, A.; Egberts, F.; Proksch, E.; Buiting, K.; Schubert, C.; Claviez, A.; Siebert, R.; Hauschild, A. (2010)
Malignant melanoma and Wiedemann-Beckwith syndrome in childhood
Klinische Padiatrie 222 (6), S. 388–390. https://doi.org/10.1055/s-0030-1267152.

Lohmann, Dietmar (2010)
Retinoblastoma
Advances in experimental medicine and biology 685, S. 220–227. https://doi.org/10.1007/978-1-4419-6448-9_21.

Mitter, Diana; Chiaie, Barbara Delle; Lüdecke, Hermann-Josef; Gillessen-Kaesbach, Gabriele; Bohring, Axel; Kohlhase, Jürgen; Caliebe, Almuth; Siebert, Reiner; Roepke, Albrecht; Ramos-Arroyo, Maria A.; Nieva, Beatriz; Menten, Björn; Loeys, Bart; Mortier, Geert; Wieczorek, Dagmar (2010)
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
American journal of medical genetics. Part A 152A (5), S. 1213–1224. https://doi.org/10.1002/ajmg.a.33344.

Pechlivanis, Sonali; Scherag, André; Mühleisen, Thomas W.; Möhlenkamp, Stefan; Horsthemke, Bernhard; Boes, Tanja; Bröcker-Preuss, Martina; Mann, Klaus; Erbel, Raimund; Jöckel, Karl-Heinz; Nöthen, Markus M.; Moebus, Susanne (2010)
Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the Heinz Nixdorf recall cohort
Arteriosclerosis, thrombosis, and vascular biology 30 (9), S. 1867–1872. https://doi.org/10.1161/ATVBAHA.110.208496.

Ramantani, Georgia; Kohlhase, Jürgen; Hertzberg, Christoph; Innes, A. Micheil; Engel, Kerstin; Hunger, Susan; Borozdin, Wiktor; Mah, Jean K.; Ungerath, Kristina; Walkenhorst, Hartmut; Richardt, Hans-Helmut; Buckard, Johannes; Bevot, Andrea; Siegel, Corinna; Stülpnagel, Celina von; Ikonomidou, Chrysanthy; Thomas, Kara; Proud, Virginia; Niemann, Frank; Wieczorek, Dagmar; Häusler, Martin; Niggemann, Pascal; Baltaci, Volkan; Conrad, Karsten; Lebon, Pierre; Lee-Kirsch, Min Ae (2010)
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
Arthritis and rheumatism 62 (5), S. 1469–1477. https://doi.org/10.1002/art.27367.

Ramsden, Simon C.; Clayton-Smith, Jill; Birch, Rachael; Buiting, Karin (2010)
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
BMC Med Genet 11, S. 70. https://doi.org/10.1186/1471-2350-11-70.

Sendi-Naderi, A.; Lüdecke, H-J; Unger, S.; Kern, J. S.; Wolff, G.; Bruckner-Tuderman, L.; Nashan, D. (2010)
A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene
Journal of the European Academy of Dermatology and Venereology : JEADV 24 (5), S. 612–614. https://doi.org/10.1111/j.1468-3083.2009.03444.x.

Simon, T.; Feldkötter, M.; Buiting, K.; Ortmann, M.; Bolz, H.; Körber, F. (2010)
Slow progression of a small Wilms‘ tumor
Klinische Padiatrie 222 (3), S. 190–191. https://doi.org/10.1055/s-0030-1249008.

Solomon, Benjamin D.; Lacbawan, Felicitas; Mercier, Sandra; Clegg, Nancy J.; Delgado, Mauricio R.; Rosenbaum, Kenneth; Dubourg, Christèle; David, Veronique; Olney, Ann Haskins; Wehner, Lars-Erik; Hehr, Ute; Bale, Sherri; Paulussen, Aimee; Smeets, Hubert J.; Hardisty, Emily; Tylki-Szymanska, Anna; Pronicka, Ewa; Clemens, Michelle; McPherson, Elizabeth; Hennekam, Raoul C. M.; Hahn, Jin; Stashinko, Elaine; Levey, Eric; Wieczorek, Dagmar; Roeder, Elizabeth; Schell-Apacik, Chayim Can; Booth, Carol W.; Thomas, Ronald L.; Kenwrick, Sue; Cummings, Derek A. T.; Bous, Sophia M.; Keaton, Amelia; Balog, Joan Z.; Hadley, Donald; Zhou, Nan; Long, Robert; Vélez, Jorge I.; Pineda-Alvarez, Daniel E.; Odent, Sylvie; Roessler, Erich; Muenke, Maximilian (2010)
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
J Med Genet 47 (8), S. 513–524. https://doi.org/10.1136/jmg.2009.073049.

Thomas, Anish; Rajan, Sudarsan; Thurston, Harold L.; Masineni, Sreeharsha N.; Dube, Preeti; Bose, Abhishek; Muthu, Vasundhara; Dube, Syamalima; Wieczorek, David F.; Poiesz, Bernard J.; Dube, Dipak K. (2010)
Expression of a novel tropomyosin isoform in axolotl heart and skeletal muscle
Journal of cellular biochemistry 110 (4), S. 875–881. https://doi.org/10.1002/jcb.22599.

Wawrzik, Michaela; Unmehopa, Unga Arifa; Swaab, Dick Frans; van de Nes, Johannes; Buiting, Karin; Horsthemke, Bernhard (2010)
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection
Neurogenetics 11 (2), S. 153–161. https://doi.org/10.1007/s10048-009-0231-z.

Westekemper, Henrike; Karimi, Sara; Süsskind, Daniela; Anastassiou, Gerasimos; Freistühler, Michael; Meller, Daniel; Zeschnigk, Michael; Steuhl, Klaus-Peter; Bornfeld, Norbert; Schmid, Kurt-Werner; Grabellus, Florian (2010)
Expression of MCSP and PRAME in conjunctival melanoma
Br J Ophthalmol 94 (10), S. 1322–1327. https://doi.org/10.1136/bjo.2009.167445.

Wieczorek, Dagmar; Pawlik, Barbara; Li, Yun; Akarsu, Nurten A.; Caliebe, Almuth; May, Klaus J. W.; Schweiger, Bernd; Vargas, Fernando R.; Balci, Sevim; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd (2010)
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
Human mutation 31 (1), S. 81–89. https://doi.org/10.1002/humu.21142.

2009

Biewald, E.; Mestdagh, P.; Stephan, H.; Preter, K. de; Thor, T.; Baumann, M.; Lohmann, D.; Eggert, A.; Spelemann, F.; Schramm, A.; Vandesompele, J.; Schulte, J. H. (2009)
The miR-17–92 gene cluster is amplified and overexpressed in retinoblastoma
Klinische Padiatrie 221 (03). https://doi.org/10.1055/s-0029-1222625.

Birnbaum, Stefanie; Ludwig, Kerstin U.; Reutter, Heiko; Herms, Stefan; Steffens, Michael; Rubini, Michele; Baluardo, Carlotta; Ferrian, Melissa; Almeida de Assis, Nilma; Alblas, Margrieta A.; Barth, Sandra; Freudenberg, Jan; Lauster, Carola; Schmidt, Gül; Scheer, Martin; Braumann, Bert; Bergé, Stefaan J.; Reich, Rudolf H.; Schiefke, Franziska; Hemprich, Alexander; Pötzsch, Simone; Steegers-Theunissen, Regine P.; Pötzsch, Bernd; Moebus, Susanne; Horsthemke, Bernhard; Kramer, Franz-Josef; Wienker, Thomas F.; Mossey, Peter A.; Propping, Peter; Cichon, Sven; Hoffmann, Per; Knapp, Michael; Nöthen, Markus M.; Mangold, Elisabeth (2009)
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Nature genetics 41 (4), S. 473–477. https://doi.org/10.1038/ng.333.

Engels, Hartmut; Wohlleber, Eva; Zink, Alexander; Hoyer, Juliane; Ludwig, Kerstin U.; Brockschmidt, Felix F.; Wieczorek, Dagmar; Moog, Ute; Hellmann-Mersch, Birgit; Weber, Ruthild G.; Willatt, Lionel; Kreiss-Nachtsheim, Martina; Firth, Helen V.; Rauch, Anita (2009)
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
European journal of human genetics : EJHG 17 (12), S. 1592–1599. https://doi.org/10.1038/ejhg.2009.90.

Friedrich, T.; Hehr, U.; Lohmann, D.; Wieczorek, D. (2009)
Big clinical variability in patients with Treacher-Collins-Franceschetti-syndrome
Klin Pädiatrie (2), S. 119. https://doi.org/10.1055/s-0029-1214332.

Garcia-Angarita, Natalia; Kirschner, Janbernd; Heiliger, Mandy; Thirion, Christian; Walter, Maggie C.; Schnittfeld-Acarlioglu, Susanne; Albrecht, Matthias; Müller, Klaus; Wieczorek, Dagmar; Lochmüller, Hanns; Krause, Sabine (2009)
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele
Neuromuscular disorders : NMD 19 (7), S. 481–484. https://doi.org/10.1016/j.nmd.2009.05.001.

Harmsen, May-Britt; Azzarello-Burri, Silvia; García González, M. Mar; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Müller, Dietmar; Rauch, Anita; Rossier, Eva; Seemanova, Eva; Spaich, Christiane; Steiner, Bernhard; Wieczorek, Dagmar; Zenker, Martin; Kutsche, Kerstin (2009)
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
European journal of human genetics : EJHG 17 (10), S. 1207–1215. https://doi.org/10.1038/ejhg.2009.40.

Hauffa BP, Kuechler A, Albrecht B, Koeninger A, Kimmig R, Gromoll J, Horsthemke B. (2009)
A familial translocation t (2; 8) with a submicroscopic deletion in breakpoint 2p16. 3 and a paternally inherited point mutation of the FSH receptor gene explain primary amenorrhea and delayed puberty in a 17-year-old girl
HORMONE RESEARCH (Vol. 72).

Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A-C; Nourissier, C.; Sharma, N.; Vogels, A. (2009)
The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder
Journal of intellectual disability research : JIDR 53 (6), S. 538–547. https://doi.org/10.1111/j.1365-2788.2009.01172.x.

Horsthemke, Bernhard (2009)
Of wolves and men: the role of paternal child care in the evolution of genomic imprinting
European journal of human genetics : EJHG 17 (3), S. 273–274. https://doi.org/10.1038/ejhg.2008.211.

Kanber, Deniz; Berulava, Tea; Ammerpohl, Ole; Mitter, Diana; Richter, Julia; Siebert, Reiner; Horsthemke, Bernhard; Lohmann, Dietmar; Buiting, Karin (2009)
The human retinoblastoma gene is imprinted
PLoS genetics 5 (12), e1000790. https://doi.org/10.1371/journal.pgen.1000790.

Kanber, Deniz; Buiting, Karin; Zeschnigk, Michael; Ludwig, Michael; Horsthemke, Bernhard (2009)
Low frequency of imprinting defects in ICSI children born small for gestational age
European journal of human genetics : EJHG 17 (1), S. 22–29. https://doi.org/10.1038/ejhg.2008.177.

Kanber, Deniz; Giltay, Jacques; Wieczorek, Dagmar; Zogel, Corinna; Hochstenbach, Ron; Caliebe, Almuth; Kuechler, Alma; Horsthemke, Bernhard; Buiting, Karin (2009)
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
European journal of human genetics : EJHG 17 (5), S. 582–590. https://doi.org/10.1038/ejhg.2008.232.

Kuechler, A., Albrecht, B., Koeninger, A., Hauffa, B., Gromoll, J., Horsthemke, B. (2009)
FSHR deficiency in a patient with a familial translocation t (2; 8)
CHROMOSOME RESEARCH (Vol. 17).

Mitter, Diana; Rushlow, Diane; Nowak, Inga; Ansperger-Rescher, Birgit; Gallie, Brenda L.; Lohmann, Dietmar R. (2009)
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma
Familial cancer 8 (1), S. 55–58. https://doi.org/10.1007/s10689-008-9198-4.

Nareyeck, Gordon; Zeschnigk, Michael; Bornfeld, Norbert; Anastassiou, Gerasimos (2009)
Novel cell lines derived by long-term culture of primary uveal melanomas
Ophthalmologica. Journal international d‘ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 223 (3), S. 196–201. https://doi.org/10.1159/000201566.

Neumann, Thomas E.; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O.; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M.; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera (2009)
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
European journal of human genetics : EJHG 17 (4), S. 420–425. https://doi.org/10.1038/ejhg.2008.188.

Sousa, Sérgio B.; Abdul-Rahman, Omar A.; Bottani, Armand; Cormier-Daire, Valérie; Fryer, Alan; Gillessen-Kaesbach, Gabriele; Horn, Denise; Josifova, Dragana; Kuechler, Alma; Lees, Melissa; MacDermot, Kay; Magee, Alex; Morice-Picard, Fanny; Rosser, Elizabeth; Sarkar, Ajoy; Shannon, Nora; Stolte-Dijkstra, Irene; Verloes, Alain; Wakeling, Emma; Wilson, Louise; Hennekam, Raoul C. M. (2009)
Nicolaides-Baraitser syndrome: Delineation of the phenotype
American journal of medical genetics. Part A 149A (8), S. 1628–1640. https://doi.org/10.1002/ajmg.a.32956.

Wawrzik, Michaela; Spiess, Andrej-Nikolai; Herrmann, Ralf; Buiting, Karin; Horsthemke, Bernhard (2009)
Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis
European journal of human genetics : EJHG 17 (11), S. 1463–1470. https://doi.org/10.1038/ejhg.2009.83.

Wieczorek, D. (2009)
Microcephaly and mental retardation
Medizinische Genetik (2), S. 224–230.

Wieczorek, Dagmar; Bartsch, Oliver; Lechno, Stanislav; Kohlhase, Jürgen; Peters, Dorien J. M.; Dauwerse, Hans; Gillessen-Kaesbach, Gabriele; Hennekam, Raoul C. M.; Passarge, Eberhard (2009)
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers
American journal of medical genetics. Part A 149A (12), S. 2849–2854. https://doi.org/10.1002/ajmg.a.33129.

Wieczorek, Dagmar; Gener, Blanca; González, Ma Jesús Martínez; Seland, Saskia; Fischer, Sven; Hehr, Ute; Kuechler, Alma; Hoefsloot, Lies H.; Leeuw, Nicole de; Gillessen-Kaesbach, Gabriele; Lohmann, Dietmar R. (2009)
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome
American journal of medical genetics. Part A 149A (5), S. 837–843. https://doi.org/10.1002/ajmg.a.32747.

Zeschnigk, Michael; Martin, Marcel; Betzl, Gisela; Kalbe, Andreas; Sirsch, Caroline; Buiting, Karin; Gross, Stephanie; Fritzilas, Epameinondas; Frey, Bruno; Rahmann, Sven; Horsthemke, Bernhard (2009)
Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete
Human Molecular Genetics 18 (8), S. 1439–1448. https://doi.org/10.1093/hmg/ddp054.

2008

Beysen, Diane; Jaegere, Sarah de; Amor, David; Bouchard, Philippe; Christin-Maitre, Sophie; Fellous, Marc; Touraine, Philippe; Grix, Arthur W.; Hennekam, Raoul; Meire, Françoise; Oyen, Nina; Wilson, Louise C.; Barel, Dalit; Clayton-Smith, Jill; Ravel, Thomy de; Decock, Christian; Delbeke, Patricia; Ensenauer, Regina; Ebinger, Friedrich; Gillessen-Kaesbach, Gabriele; Hendriks, Yvonne; Kimonis, Virginia; Laframboise, Rachel; Laissue, Paul; Leppig, Kathleen; Leroy, Bart P.; Miller, David T.; Mowat, David; Neumann, Luitgard; Plomp, Astrid; van Regemorter, Nicole; Wieczorek, Dagmar; Veitia, Reiner A.; Paepe, Anne de; Baere, Elfride de (2008)
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
Human mutation 29 (11), E205-19. https://doi.org/10.1002/humu.20819.

Buiting, Karin; Kanber, Deniz; Martín-Subero, José I.; Lieb, Wolfgang; Terhal, Paulien; Albrecht, Beate; Purmann, Sabine; Gross, Stephanie; Lich, Christina; Siebert, Reiner; Horsthemke, Bernhard; Gillessen-Kaesbach, Gabriele (2008)
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
Human mutation 29 (9), S. 1141–1146. https://doi.org/10.1002/humu.20771.

Cremer, Kirsten; Lüdecke, Hermann-Josef; Ruhr, Frauke; Wieczorek, Dagmar (2008)
Left-ventricular non-compaction (LVNC)
a clinical feature more often observed in terminal deletion 1p36 than previously expected
European journal of medical genetics 51 (6), S. 685–688. https://doi.org/10.1016/j.ejmg.2008.07.006.

Eggermann, T.; Schönherr, N.; Eggermann, K.; Buiting, K.; Ranke, M. B.; Wollmann, H. A.; Binder, G. (2008)
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
Clinical genetics 73 (1), S. 79–84. https://doi.org/10.1111/j.1399-0004.2007.00930.x.

Fischer, S.; Kohlhase, J.; Böhm, D.; Schweiger, B.; Hoffmann, D.; Heitmann, M.; Horsthemke, B.; Wieczorek, D. (2008)
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia
J Med Genet 45 (11), S. 731–737. https://doi.org/10.1136/jmg.2008.059451.

Gijsbers, Antoinet C. J.; D‘haene, Barbara; Hilhorst-Hofstee, Yvonne; Mannens, Marcel; Albrecht, Beate; Seidel, Joerg; Witt, David R.; Maisenbacher, Melissa K.; Loeys, Bart; van Essen, Ton; Bakker, Egbert; Hennekam, Raoul; Breuning, Martijn H.; Baere, Elfride de; Ruivenkamp, Claudia A. L. (2008)
Identification of copy number variants associated with BPES-like phenotypes
Hum Genet 124 (5), S. 489–498. https://doi.org/10.1007/s00439-008-0574-9.

Giunta, Cecilia; Elçioglu, Nursel H.; Albrecht, Beate; Eich, Georg; Chambaz, Céline; Janecke, Andreas R.; Yeowell, Heather; Weis, MaryAnn; Eyre, David R.; Kraenzlin, Marius; Steinmann, Beat (2008)
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13
American journal of human genetics 82 (6), S. 1290–1305. https://doi.org/10.1016/j.ajhg.2008.05.001.

Horsthemke, Bernhard; Buiting, Karin (2008)
Chapter 8 Genomic Imprinting and Imprinting Defects in Humans. In: Long-Range Control of Gene Expression, Bd. 61: Elsevier (Advances in Genetics), S. 225–246.

Horsthemke, Bernhard; Wagstaff, Joseph (2008)
Mechanisms of imprinting of the Prader-Willi/Angelman region
American journal of medical genetics. Part A 146A (16), S. 2041–2052. https://doi.org/10.1002/ajmg.a.32364.

Kantaputra, P.; Miletich, I.; Lüdecke, H-J; Suzuki, E. Y.; Praphanphoj, V.; Shivdasani, R.; Wuelling, M.; Vortkamp, A.; Napierala, D.; Sharpe, P. T. (2008)
Tricho-rhino-phalangeal syndrome with supernumerary teeth
Journal of dental research 87 (11), S. 1027–1031. https://doi.org/10.1177/154405910808701102.

Lederman, Michal; Meir, Tal; Zeschnigk, Michael; Pe‘er, Jacob; Chowers, Itay (2008)
Inhibitor of apoptosis proteins gene expression and its correlation with prognostic factors in primary and metastatic uveal melanoma
Current eye research 33 (10), S. 876–884. https://doi.org/10.1080/02713680802382989.

Lüdecke, H-J; Horsthemke, B. (2008)
TRPS1 and the Tricho-Rhino-Phalangeal Syndromes
OXFORD MONOGRAPHS ON MEDICAL GENETICS 54 (1), S. 1470–1475.

Michalk, Anne; Stricker, Sigmar; Becker, Jutta; Rupps, Rosemarie; Pantzar, Tapio; Miertus, Jan; Botta, Giovanni; Naretto, Valeria G.; Janetzki, Catrin; Yaqoob, Nausheen; Ott, Claus-Eric; Seelow, Dominik; Wieczorek, Dagmar; Fiebig, Britta; Wirth, Brunhilde; Hoopmann, Markus; Walther, Marisa; Körber, Friederike; Blankenburg, Markus; Mundlos, Stefan; Heller, Raoul; Hoffmann, Katrin (2008)
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. American journal of human genetics 82 (2), S. 464–476. https://doi.org/10.1016/j.ajhg.2007.11.006.

Mitter, Diana; Krakow, Deborah; Farrington-Rock, Claire; Meinecke, Peter (2008)
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
American journal of medical genetics. Part A 146A (6), S. 779–783. https://doi.org/10.1002/ajmg.a.32230.

Morris-Rosendahl, D. J.; Najm, J.; Lachmeijer, A. M. A.; Sztriha, L.; Martins, M.; Kuechler, A.; Haug, V.; Zeschnigk, C.; Martin, P.; Santos, M.; Vasconcelos, C.; Omran, H.; Kraus, U.; van der Knaap, M. S.; Schuierer, G.; Kutsche, K.; Uyanik, G. (2008)
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
Clinical genetics 74 (5), S. 425–433. https://doi.org/10.1111/j.1399-0004.2008.01093.x.

Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A.; Chizhikov, Victor V.; Sudi, Jyotsna; Christian, Susan L.; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A.; Flubacher, Armin; Charnas, Lawrence R.; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva; Dobyns, William B.; Kutsche, Kerstin (2008)
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Nature genetics 40 (9), S. 1065–1067. https://doi.org/10.1038/ng.194.

Ortmann, Christina A.; Eisele, Lewin; Nückel, Holger; Klein-Hitpass, Ludger; Führer, Anja; Dührsen, Ulrich; Zeschnigk, Michael (2008)
Aberrant hypomethylation of the cancer-testis antigen PRAME correlates with PRAME expression in acute myeloid leukemia
Annals of hematology 87 (10), S. 809–818. https://doi.org/10.1007/s00277-008-0514-8.

Rauch, Joachim; Knoch, Tobias A.; Solovei, Irina; Teller, Kathrin; Stein, Stefan; Buiting, Karin; Horsthemke, Bernhard; Langowski, Jörg; Cremer, Thomas; Hausmann, Michael; Cremer, Christoph (2008)
Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei
Differentiation; research in biological diversity 76 (1), S. 66–82. https://doi.org/10.1111/j.1432-0436.2007.00237.x.

Ronan, Anne; Buiting, Karin; Dudding, Tracy (2008)
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
American journal of medical genetics. Part A 146A (1), S. 78–82. https://doi.org/10.1002/ajmg.a.31952.

Schulz, A. L.; Albrecht, B.; Arici, C.; van der Burgt, I.; Buske, A.; Gillessen-Kaesbach, G.; Heller, R.; Horn, D.; Hübner, C. A.; Korenke, G. C.; König, R.; Kress, W.; Krüger, G.; Meinecke, P.; Mücke, J.; Plecko, B.; Rossier, E.; Schinzel, A.; Schulze, A.; Seemanova, E.; Seidel, H.; Spranger, S.; Tuysuz, B.; Uhrig, S.; Wieczorek, D.; Kutsche, K.; Zenker, M. (2008)
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
Clinical genetics 73 (1), S. 62–70. https://doi.org/10.1111/j.1399-0004.2007.00931.x.

Shanske, Alan L.; Patel, Ankita; Saukam, Sou; Levy, Brynn; Lüdecke, Hermann-Josef (2008)
Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)
American journal of medical genetics. Part A 146A (24), S. 3211–3216. https://doi.org/10.1002/ajmg.a.32615.

Speckmann, Carsten; Pannicke, Ulrich; Wiech, Elisabeth; Schwarz, Klaus; Fisch, Paul; Friedrich, Wilhelm; Niehues, Tim; Gilmour, Kimberly; Buiting, Karin; Schlesier, Michael; Eibel, Hermann; Rohr, Jan; Superti-Furga, Andrea; Gross-Wieltsch, Ute; Ehl, Stephan (2008)
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency
Blood 112 (10), S. 4090–4097. https://doi.org/10.1182/blood-2008-04-153361.

Stephan, Harald; Zakrzewski, Johannes L.; Bölöni, Réka; Grasemann, Corinna; Lohmann, Dietmar R.; Eggert, Angelika (2008)
Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell lines
Pediatric blood & cancer 50 (2), S. 218–222. https://doi.org/10.1002/pbc.21369.

Unger, Sheila; Böhm, Detlef; Kaiser, Frank J.; Kaulfuss, Silke; Borozdin, Wiktor; Buiting, Karin; Burfeind, Peter; Böhm, Johann; Barrionuevo, Francisco; Craig, Alexander; Borowski, Kristi; Keppler-Noreuil, Kim; Schmitt-Mechelke, Thomas; Steiner, Bernhard; Bartholdi, Deborah; Lemke, Johannes; Mortier, Geert; Sandford, Richard; Zabel, Bernhard; Superti-Furga, Andrea; Kohlhase, Jürgen (2008)
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Nature genetics 40 (3), S. 287–289. https://doi.org/10.1038/ng.86.

Vollmar, Tobias; Maus, Baerbel; Wurtz, Rolf P.; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar; Boehringer, Stefan (2008)
Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces
European journal of medical genetics 51 (1), S. 44–53. https://doi.org/10.1016/j.ejmg.2007.10.002.

Weise, A.; Gross, M.; Mrasek, K.; Mkrtchyan, H.; Horsthemke, B.; Jonsrud, C.; Eggeling, F. von; Hinreiner, S.; Witthuhn, V.; Claussen, U.; Liehr, T. (2008)
Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level
International journal of molecular medicine 21 (2), S. 189–200. https://doi.org/10.3892/ijmm.21.2.189.

Zeschnigk, Michael; Albrecht, Beate; Buiting, Karin; Kanber, Deniz; Eggermann, Thomas; Binder, Gerhard; Gromoll, Jörg; Prott, Eva-Christina; Seland, Saskia; Horsthemke, Bernhard (2008)
IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
European journal of human genetics : EJHG 16 (3), S. 328–334. https://doi.org/10.1038/sj.ejhg.5201974.

Zhang, Katherine; Nowak, Inga; Rushlow, Diane; Gallie, Brenda L.; Lohmann, Dietmar R. (2008)
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
Human mutation 29 (4), S. 475–484. https://doi.org/10.1002/humu.20664.

2007

Brenk, Christian H.; Prott, Eva-Christina; Trost, Detlef; Hoischen, Alexander; Walldorf, Constanze; Radlwimmer, Bernhard; Wieczorek, Dagmar; Propping, Peter; Gillessen-Kaesbach, Gabriele; Weber, Ruthild G.; Engels, Hartmut (2007)
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
European journal of human genetics : EJHG 15 (1), S. 35–44. https://doi.org/10.1038/sj.ejhg.5201718.

Bruder, E.; Terracciano, L. M.; Passarge, E.; Meier-Ruge, W. A. (2007)
Enzymhistochemie des klassischen und des ultrakurzen Morbus Hirschsprung
Der Pathologe 28 (2), S. 105–112. https://doi.org/10.1007/s00292-007-0901-2.

Buiting, Karin; Nazlican, Hülya; Galetzka, Danuta; Wawrzik, Michaela; Gross, Stephanie; Horsthemke, Bernhard (2007)
C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain
Genomics 89 (5), S. 588–595. https://doi.org/10.1016/j.ygeno.2006.12.008.

Ebermann, Inga; Scholl, Hendrik P. N.; Charbel Issa, Peter; Becirovic, Elvir; Lamprecht, Jürgen; Jurklies, Bernhard; Millán, José M.; Aller, Elena; Mitter, Diana; Bolz, Hanno (2007)
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Hum Genet 121 (2), S. 203–211. https://doi.org/10.1007/s00439-006-0304-0.

Gratias, Sandrine; Rieder, Harald; Ullmann, Reinhard; Klein-Hitpass, Ludger; Schneider, Stephanie; Bölöni, Réka; Kappler, Martin; Lohmann, Dietmar R. (2007)
Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma
Cancer research 67 (1), S. 408–416. https://doi.org/10.1158/0008-5472.CAN-06-1317.

Hellenbroich, Yorck; Grzeschik, Karl-Heinz; Krapp, Martin; Jarutat, Tiantom; Lehrmann-Petersen, Christa; Buiting, Karin; Gillessen-Kaesbach, Gabriele (2007)
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. European journal of medical genetics 50 (5), S. 392–398. https://doi.org/10.1016/j.ejmg.2007.05.004.

Horsthemke, Bernhard (2007)
Heritable germline epimutations in humans
Nature genetics 39 (5), 573-4; author reply 575-6. https://doi.org/10.1038/ng0507-573b.

Horsthemke, Bernhard (2007)
Rhythm is not enough
Nature genetics 39 (10), S. 1190–1191. https://doi.org/10.1038/ng1007-1190.

Kaiser, Frank J.; Lüdecke, Hermann-Josef; Weger, Stefan (2007)
SUMOylation modulates transcriptional repression by TRPS1
Biological chemistry 388 (4), S. 381–390. https://doi.org/10.1515/BC.2007.051.

Meir, Tal; Zeschnigk, Michael; Masshöfer, Lars; Pe‘er, Jacob; Chowers, Itay (2007)
The spatial distribution of monosomy 3 and network vasculogenic mimicry patterns in uveal melanoma
Investigative ophthalmology & visual science 48 (5), S. 1918–1922. https://doi.org/10.1167/iovs.06-1308.

Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cavé, Hélène; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yoichi (2007)
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Am. J. Med. Genet. 143A (8), S. 799–807. https://doi.org/10.1002/ajmg.a.31658.

Passarge, E.; Bruder, E. (2007)
Genetische Grundlagen des Morbus Hirschsprung
Der Pathologe 28 (2), S. 113–118. https://doi.org/10.1007/s00292-007-0899-5.

Tasse, Christiane; Majewski, Frank; Böhringer, Stefan; Fischer, Sven; Lüdecke, Hermann-Josef; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar (2007)
A family with autosomal dominant oculo-auriculo-vertebral spectrum
Clinical dysmorphology 16 (1), S. 1–7. https://doi.org/10.1097/MCD.0b013e328010d313.

Teller, Kathrin; Solovei, Irina; Buiting, Karin; Horsthemke, Bernhard; Cremer, Thomas (2007)
Maintenance of imprinting and nuclear architecture in cycling cells
Proceedings of the National Academy of Sciences of the United States of America 104 (38), S. 14970–14975. https://doi.org/10.1073/pnas.0704285104.

Treeck, Oliver; Pfeiler, Georg; Mitter, Diana; Lattrich, Claus; Piendl, Gerhard; Ortmann, Olaf (2007)
Estrogen receptor {beta}1 exerts antitumoral effects on SK-OV-3 ovarian cancer cells
The Journal of endocrinology 193 (3), S. 421–433. https://doi.org/10.1677/JOE-07-0087.

Wieczorek D. (2007)
Die Bedeutung des fazialen Phänotyps für die Diagnosestellung von syndromalen Krankheitsbildern
Neuropädiatrie in Klinik und Praxis (1), S. 13–22.

Wieczorek, Dagmar; Ludwig, Michael; Boehringer, Stefan; Jongbloet, Piet Hein; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard (2007)
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
Hum Genet 121 (3-4), S. 369–376. https://doi.org/10.1007/s00439-007-0336-0.

Wieczorek, Dagmar; Shaw-Smith, Charles; Kohlhase, Jürgen; Schmitt, Wolfgang; Buiting, Karin; Coffey, Alison; Howard, Eleanor; Hehr, Ute; Gillessen-Kaesbach, Gabriele (2007)
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation—new MCA/MR syndrome in two affected sibs and a mildly affected mother?
Am. J. Med. Genet. 143A (11), S. 1135–1142. https://doi.org/10.1002/ajmg.a.31752.

Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; van der Burgt, Ineke; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Koch, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Schnakenburg, Christian von; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P.; Thomas, Christoph; Kutsche, Kerstin (2007)
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
J Med Genet 44 (10), S. 651–656. https://doi.org/10.1136/jmg.2007.051276.

Zühlke, Christine; Roeder, Elizabeth; Purmann, Sabine; Wieczorek, Dagmar; Curry, Cynthia; Loustalet, Cheri; Hellenbroich, Yorck; Richardt, Hans Helmut; Gillessen-Kaesbach, Gabriele (2007)
Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature
Am. J. Med. Genet. 143A (17), S. 2058–2061. https://doi.org/10.1002/ajmg.a.31772.

2006

Albrecht, B.; Michna, D.; Gillessen-Kaesbach, G.; Wieczorek, D. (2006)
Anophthalmia Type Waardenburg (OPHT Halmo Acromelic syndrome) in a consanguineous lebanese family presenting with high intrafamilial variability. Genet Couns (17;1), S. 97.

Boehringer, Stefan; Vollmar, Tobias; Tasse, Christiane; Wurtz, Rolf P.; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar (2006)
Syndrome identification based on 2D analysis software
European journal of human genetics : EJHG 14 (10), S. 1082–1089. https://doi.org/10.1038/sj.ejhg.5201673.

Bornfeld, N.; Schüler, A.; Bölöni, R.; Jurklies, C.; Wieland, R.; Sauerwein, W.; Lohmann, D. (2006)
Retinoblastom
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 103 (1), 59-76; quiz 77-8. https://doi.org/10.1007/s00347-005-1296-1.

Borozdin, Wiktor; Steinmann, Katharina; Albrecht, Beate; Bottani, Armand; Devriendt, Koenraad; Leipoldt, Michael; Kohlhase, Jürgen (2006)
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
Human mutation 27 (2), S. 211–212. https://doi.org/10.1002/humu.9396.

Fischer, Sven; Lüdecke, Hermann-Josef; Wieczorek, Dagmar; Böhringer, Stefan; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard (2006)
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum
Human Molecular Genetics 15 (4), S. 581–587. https://doi.org/10.1093/hmg/ddi474.

Horsthemke, B. (2006)
Epimutations in human disease
Current topics in microbiology and immunology 310, S. 45–59. https://doi.org/10.1007/3-540-31181-5_4.

Horsthemke, B.; Buiting, K. (2006)
Imprinting defects on human chromosome 15
Cytogenetic and genome research 113 (1-4), S. 292–299. https://doi.org/10.1159/000090844.

Liehr, T.; Starke, H.; Heller, A.; Kosyakova, N.; Mrasek, K.; Gross, M.; Karst, C.; Steinhaeuser, U.; Hunstig, F.; Fickelscher, I.; Kuechler, A.; Trifonov, V.; Romanenko, S. A.; Weise, A. (2006)
Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding
Cytogenetic and genome research 114 (3-4), S. 240–244. https://doi.org/10.1159/000094207.

McMaster, Mary L.; Goldin, Lynn R.; Bai, Yan; Ter-Minassian, Monica; Boehringer, Stefan; Giambarresi, Therese R.; Vasquez, Linda G.; Tucker, Margaret A. (2006)
Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families
American journal of human genetics 79 (4), S. 695–701. https://doi.org/10.1086/507687.

Mitter, Diana; Buiting, Karin; Eggeling, Ferdinand von; Kuechler, Alma; Liehr, Thomas; Mau-Holzmann, Ulrike Angelika; Prott, Eva-Christina; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele (2006)
Is there a higher incidence of maternal uniparental disomy 14 upd(14)mat? Detection of 10 new patients by methylation-specific PCR
Am. J. Med. Genet. 140 (19), S. 2039–2049. https://doi.org/10.1002/ajmg.a.31414.

Nareyeck, Gordon; Zeschnigk, Michael; Prescher, Gabriele; Lohmann, Dietmar R.; Anastassiou, Gerasimos (2006)
Establishment and characterization of two uveal melanoma cell lines derived from tumors with loss of one chromosome 3
Experimental eye research 83 (4), S. 858–864. https://doi.org/10.1016/j.exer.2006.04.004.

Niihori, Tetsuya; Aoki, Yoko; Narumi, Yoko; Neri, Giovanni; Cavé, Hélène; Verloes, Alain; Okamoto, Nobuhiko; Hennekam, Raoul C. M.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Kavamura, Maria Ines; Kurosawa, Kenji; Ohashi, Hirofumi; Wilson, Louise; Heron, Delphine; Bonneau, Dominique; Corona, Giuseppina; Kaname, Tadashi; Naritomi, Kenji; Baumann, Clarisse; Matsumoto, Naomichi; Kato, Kumi; Kure, Shigeo; Matsubara, Yoichi (2006)
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Nature genetics 38 (3), S. 294–296. https://doi.org/10.1038/ng1749.

Seifert, W.; Holder-Espinasse, M.; Spranger, S.; Hoeltzenbein, M.; Rossier, E.; Dollfus, H.; Lacombe, D.; Verloes, A.; Chrzanowska, K. H.; Maegawa, G. H. B.; Chitayat, D.; Kotzot, D.; Huhle, D.; Meinecke, P.; Albrecht, B.; Mathijssen, I.; Leheup, B.; Raile, K.; Hennies, H. C.; Horn, D. (2006)
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
J Med Genet 43 (5), e22. https://doi.org/10.1136/jmg.2005.039867.

Stankiewicz, Paweł; Kuechler, Alma; Eller, C. Daniel; Sahoo, Trilochan; Baldermann, Christiane; Lieser, Ulla; Hesse, Martin; Gläser, Christiane; Hagemann, Monika; Yatsenko, Svetlana A.; Liehr, Thomas; Horsthemke, Bernhard; Claussen, Uwe; Marahrens, York; Lupski, James R.; Hansmann, Ingo (2006)
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation
Am. J. Med. Genet. 140 (5), S. 442–452. https://doi.org/10.1002/ajmg.a.31096.

Webb, T.; Whittington, J.; Holland, A. J.; Soni, S.; Boer, H.; Clarke, D.; Horsthemke, B. (2006)
CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome
Clinical genetics 69 (1), S. 26–32. https://doi.org/10.1111/j.1399-0004.2006.00536.x.

Wieczorek, D. (2006)
Syndromale Krankheitsbilder mit mentaler Retardierung
Kinderärztliche Praxis (77), S. 265–270.

Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele (2006)
Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome
Am. J. Med. Genet. 140 (21), 2381-2; author reply 2383-4. https://doi.org/10.1002/ajmg.a.31478.

Zogel, Corinna; Böhringer, Stefan; Gross, Stephanie; Varon, Raymonda; Buiting, Karin; Horsthemke, Bernhard (2006)
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15
European journal of human genetics : EJHG 14 (6), S. 752–758. https://doi.org/10.1038/sj.ejhg.5201602.

2005

Albrecht, P.; Ansperger-Rescher, B.; Schüler, A.; Zeschnigk, M.; Gallie, B.; Lohmann, D. R. (2005)
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression
Human mutation 26 (5), S. 437–445. https://doi.org/10.1002/humu.20234.

Altug-Teber, Ozge; Dufke, Andreas; Poths, Sven; Mau-Holzmann, Ulrike Angelika; Bastepe, Murat; Colleaux, Laurence; Cormier-Daire, Valérie; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Bonin, Michael; Riess, Olaf (2005)
A rapid microarray based whole genome analysis for detection of uniparental disomy
Human mutation 26 (2), S. 153–159. https://doi.org/10.1002/humu.20198.

Armstrong, Linlea; Abd El Moneim, Azza; Aleck, Kirk; Aughton, David J.; Baumann, Clarisse; Braddock, Stephen R.; Gillessen-Kaesbach, Gabriele; Graham, John M.; Grebe, Theresa A.; Gripp, Karen W.; Hall, Bryan D.; Hennekam, Raoul; Hunter, Alasdair; Keppler-Noreuil, Kim; Lacombe, Didier; Lin, Angela E.; Ming, Jeffrey E.; Kokitsu-Nakata, Nancy Mizue; Nikkel, Sarah M.; Philip, Nicole; Raas-Rothschild, Annick; Sommer, Annemarie; Verloes, Alain; Walter, Claudia; Wieczorek, Dagmar; Williams, Marc S.; Zackai, Elaine; Allanson, Judith E. (2005)
Further delineation of Kabuki syndrome in 48 well-defined new individuals
Am. J. Med. Genet. 132A (3), S. 265–272. https://doi.org/10.1002/ajmg.a.30340.

Eggermann, T.; Meschede, D.; Schüler, H.; Palm, S.; Gläser, D.; Horsthemke, B.; Eggermann, K.; Haverkamp, F.; Zerres, K. (2005)
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter
Clinical genetics 67 (5), S. 434–437. https://doi.org/10.1111/j.1399-0004.2005.00427.x.

Grasemann, Corinna; Gratias, Sandrine; Stephan, Harald; Schüler, Andreas; Schramm, Alexander; Klein-Hitpass, Ludger; Rieder, Harald; Schneider, Stephanie; Kappes, Ferdinand; Eggert, Angelika; Lohmann, Dietmar R. (2005)
Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma
Oncogene 24 (42), S. 6441–6449. https://doi.org/10.1038/sj.onc.1208792.

Gratias, Sandrine; Schüler, Andreas; Hitpass, Ludger Klein; Stephan, Harald; Rieder, Harald; Schneider, Stephanie; Horsthemke, Bernhard; Lohmann, Dietmar R. (2005)
Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation
International journal of cancer 116 (4), S. 555–563. https://doi.org/10.1002/ijc.21051.

Häusler, Thomas; Stang, Andreas; Anastassiou, Gerasimos; Jöckel, Karl-Heinz; Mrzyk, Stefanie; Horsthemke, Bernhard; Lohmann, Dietmar R.; Zeschnigk, Michael (2005)
Loss of heterozygosity of 1p in uveal melanomas with monosomy 3
International journal of cancer 116 (6), S. 909–913. https://doi.org/10.1002/ijc.21086.

Horn, Denise; Chyrek, Magdalena; Kleier, Saskia; Lüttgen, Sabine; Bolz, Hanno; Hinkel, Georg-Klaus; Korenke, Georg Christoph; Riess, Angelika; Schell-Apacik, Can; Tinschert, Sigrid; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Kutsche, Kerstin (2005)
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
European journal of human genetics : EJHG 13 (5), S. 563–569. https://doi.org/10.1038/sj.ejhg.5201391.

Horsthemke, Bernhard; Ludwig, Michael (2005)
Assisted reproduction: the epigenetic perspective
Human reproduction update 11 (5), S. 473–482. https://doi.org/10.1093/humupd/dmi022.

Huber, Céline; Dias-Santagata, Dora; Glaser, Anna; O‘Sullivan, James; Brauner, Raja; Wu, Kenneth; Xu, Xinsong; Pearce, Kerra; Wang, Rong; Uzielli, Maria Luisa Giovannucci; Dagoneau, Nathalie; Chemaitilly, Wassim; Superti-Furga, Andrea; Dos Santos, Heloisa; Mégarbané, André; Morin, Gilles; Gillessen-Kaesbach, Gabriele; Hennekam, Raoul; van der Burgt, Ineke; Black, Graeme C. M.; Clayton, Peter E.; Read, Andrew; Le Merrer, Martine; Scambler, Peter J.; Munnich, Arnold; Pan, Zhen-Qiang; Winter, Robin; Cormier-Daire, Valérie (2005)
Identification of mutations in CUL7 in 3-M syndrome
Nature genetics 37 (10), S. 1119–1124. https://doi.org/10.1038/ng1628.

Liehr, Thomas; Brude, Elke; Gillessen-Kaesbach, Gabriele; König, Rainer; Mrasek, Kristin; Eggeling, Ferdinand von; Starke, Heike (2005)
Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter-q11.1:) and maternal UPD 15–case report plus review of similar cases
European journal of medical genetics 48 (2), S. 175–181. https://doi.org/10.1016/j.ejmg.2005.01.004.

Lohmann, Dietmar R.; Häusler, Thomas; Horsthemke, Bernhard; Zeschnigk, Michael (2005)
Minimal region of deletion on chromosomal arm 3p25.1-p25.2 in uveal melanoma
Cancer research 65 (22), 10634; author reply 10634. https://doi.org/10.1158/0008-5472.CAN-05-0748.

Ludwig, M.; Katalinic, A.; Gross, S.; Sutcliffe, A.; Varon, R.; Horsthemke, B. (2005)
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples
J Med Genet 42 (4), S. 289–291. https://doi.org/10.1136/jmg.2004.026930.

Morava, Eva; Wopereis, Suzan; Coucke, Paul; Gillessen-Kaesbach, Gabrielle; Voit, Thomas; Smeitink, Jan; Wevers, Ron; Grünewald, Stephanie (2005)
Defective protein glycosylation in patients with cutis laxa syndrome
European journal of human genetics : EJHG 13 (4), S. 414–421. https://doi.org/10.1038/sj.ejhg.5201361.

Nareyeck, Gordon; Zeschnigk, Michael; Haar, Daniela von der; Schilling, Harald; Bornfeld, Norbert; Anastassiou, Gerasimos (2005)
Differential expression of tissue inhibitor of matrix metalloproteinases 3 in uveal melanoma. Ophthalmic research 37 (1), S. 23–28. https://doi.org/10.1159/000082940.

Remus, Ralph; Kanzaki, Akio; Yawata, Ayumi; Nakanishi, Hidekazu; Wada, Hideho; Sugihara, Takashi; Zeschnigk, Michael; Zuther, Ines; Schmitz, Birgit; Naumann, Frauke; Doerfler, Walter; Yawata, Yoshihito (2005)
DNA methylation in promoter regions of red cell membrane protein genes in healthy individuals and patients with hereditary membrane disorders
International journal of hematology 81 (5), S. 385–395. https://doi.org/10.1532/IJH97.04171.

Runte, Maren; Varon, Raymonda; Horn, Denise; Horsthemke, Bernhard; Buiting, Karin (2005)
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome
Hum Genet 116 (3), S. 228–230. https://doi.org/10.1007/s00439-004-1219-2.

Schollen, E.; Grünewald, S.; Keldermans, L.; Albrecht, B.; Körner, C.; Matthijs, G. (2005)
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)
European journal of medical genetics 48 (2), S. 153–158. https://doi.org/10.1016/j.ejmg.2005.01.002.

Schüler, A.; Weber, S.; Neuhäuser, M.; Jurklies, C.; Lehnert, T.; Heimann, H.; Rudolph, G.; Jöckel, K-H; Bornfeld, N.; Lohmann, D. R. (2005)
Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect
European journal of cancer (Oxford, England : 1990) 41 (5), S. 735–740. https://doi.org/10.1016/j.ejca.2004.12.022.

So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J. J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann (2005)
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Am. J. Med. Genet. 132A (1), S. 1–7. https://doi.org/10.1002/ajmg.a.30407.

Tasse, Christiane; Böhringer, Stefan; Fischer, Sven; Lüdecke, Hermann-Josef; Albrecht, Beate; Horn, Denise; Janecke, Andreas; Kling, Rainer; König, Rainer; Lorenz, Birgit; Majewski, Frank; Maeyens, Elisabeth; Meinecke, Peter; Mitulla, Beate; Mohr, Christopher; Preischl, Monika; Umstadt, Horst; Kohlhase, Jürgen; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar (2005)
Oculo-auriculo-vertebral spectrum (OAVS)
clinical evaluation and severity scoring of 53 patients and proposal for a new classification
European journal of medical genetics 48 (4), S. 397–411. https://doi.org/10.1016/j.ejmg.2005.04.015.

Trimborn, Marc; Richter, Reyk; Sternberg, Nadine; Gavvovidis, Ioannis; Schindler, Detlev; Jackson, Andrew P.; Prott, Eva-Christina; Sperling, Karl; Gillessen-Kaesbach, Gabriele; Neitzel, Heidemarie (2005)
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype
Human mutation 26 (5), S. 496. https://doi.org/10.1002/humu.9382.

Wey, Eva; Bartholdi, Deborah; Riegel, Mariluce; Nazlican, Hülya; Horsthemke, Bernhard; Schinzel, Albert; Baumer, Alessandra (2005)
Mosaic imprinting defect in a patient with an almost typical expression of the Prader–Willi syndrome
European journal of human genetics : EJHG 13 (3), S. 273–277. https://doi.org/10.1038/sj.ejhg.5201337.

Zahn, Susanne; Ehrbrecht, Antje; Bosse, Kristin; Kalscheuer, Vera; Propping, Peter; Schwanitz, Gesa; Albrecht, Beate; Engels, Hartmut (2005)
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)
Am. J. Med. Genet. 139 (1), S. 19–24. https://doi.org/10.1002/ajmg.a.30995.

Zielinski, Boris; Gratias, Sandrine; Toedt, Grischa; Mendrzyk, Frank; Stange, Daniel E.; Radlwimmer, Bernhard; Lohmann, Dietmar R.; Lichter, Peter (2005)
Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization
Genes, chromosomes & cancer 43 (3), S. 294–301. https://doi.org/10.1002/gcc.20186.

Zweier, Christiane; Thiel, Christian T.; Dufke, Andreas; Crow, Yanick J.; Meinecke, Peter; Suri, Mohnish; Ala-Mello, Sirpa; Beemer, Frits; Bernasconi, Sergio; Bianchi, Paolo; Bier, Andrea; Devriendt, Koen; Dimitrov, Boyan; Firth, Helen; Gallagher, Renata C.; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hudgins, Louanne; Kääriäinen, Helena; Karstens, Susan; Krantz, Ian; Mannhardt, Anca; Medne, Livija; Mücke, Jürgen; Kibaek, Maria; Krogh, Lotte Nylandsted; Peippo, Maarit; Rittinger, Olaf; Schulz, Solveig; Schelley, Susan L.; Temple, I. Karen; Dennis, Nick R.; van der Knaap, Marjo S.; Wheeler, Patricia; Yerushalmi, Baruch; Zenker, Martin; Seidel, Heide; Lachmeijer, A.; Prescott, Trine; Kraus, Cornelia; Lowry, R. Brian; Rauch, Anita (2005)
Clinical and mutational spectrum of Mowat-Wilson syndrome
European journal of medical genetics 48 (2), S. 97–111. https://doi.org/10.1016/j.ejmg.2005.01.003.

2004

Albrecht, P.; Bode, J.; Buiting, K.; Prashanth, A. K.; Lohmann, D. R. (2004)
Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element
J Med Genet 41 (12), e122. https://doi.org/10.1136/jmg.2004.021923.

Albrecht, Beate; Liebers, Manuela; Kohlhase, Jürgen (2004)
Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation
Am. J. Med. Genet. 125A (1), S. 102–104. https://doi.org/10.1002/ajmg.a.20484.

Bache, Iben; van Assche, Elvire; Cingoz, Sultan; Bugge, Merete; Tümer, Zeynep; Hjorth, Mads; Lundsteen, Claes; Lespinasse, James; Winther, Kirsten; Niebuhr, Anita; Kalscheuer, Vera; Liebaers, Inge; Bonduelle, Maryse; Tournaye, Herman; Ayuso, Carmen; Barbi, Gotthold; Blennow, Elisabeth; Bourrouillou, Georges; Brondum-Nielsen, Karen; Bruun-Petersen, Gert; Croquette, Marie-Francoise; Dahoun, Sophie; Dallapiccola, Bruno; Davison, Val; Delobel, Bruno; Duba, Hans-Christoph; Duprez, Laurence; Ferguson-Smith, Malcolm; Fitzpatrick, David R.; Grace, Elizabeth; Hansmann, Ingo; Hultén, Maj; Jensen, Peter Ka; Jonveaux, Philippe; Kristoffersson, Ulf; Lopez-Pajares, Isidora; McGowan-Jordan, Jean; Murken, Jan; Orera, Maria; Parkin, Tony; Passarge, Eberhard; Ramos, Carmen; Rasmussen, Kirsten; Schempp, Werner; Schubert, Regine; Schwinger, Eberhard; Shabtai, Fiorella; Smith, Kim; Stallings, Raymond; Stefanova, Margarita; Tranebjerg, Lisbeth; Turleau, Catherine; van der Hagen, Carl Birger; Vekemans, Michel; Vokac, Nadja Kokalj; Wagner, Klaus; Wahlstroem, Jan; Zelante, Leopoldo; Tommerup, Niels (2004)
An excess of chromosome 1 breakpoints in male infertility
European journal of human genetics : EJHG 12 (12), S. 993–1000. https://doi.org/10.1038/sj.ejhg.5201263.

Böhringer, Daniel; Reinhard, Thomas; Duquesnoy, René J.; Böhringer, Stefan; Enczmann, Jürgen; Lange, Peter; Claas, Frans; Sundmacher, Rainer (2004)
Beneficial effect of matching at the HLA-A and -B amino-acid triplet level on rejection-free clear graft survival in penetrating keratoplasty.
Transplantation 77 (3), S. 417–421. https://doi.org/10.1097/01.TP.0000110415.10401.94.

Kaiser, Frank J.; Brega, Paola; Raff, Michael L.; Byers, Peter H.; Gallati, Sabina; Kay, Teresa Taylor; Almeida, Salomé de; Horsthemke, Bernhard; Lüdecke, Hermann-Josef (2004)
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal
European journal of human genetics : EJHG 12 (2), S. 121–126. https://doi.org/10.1038/sj.ejhg.5201094.

Knauer-Fischer, Sabine A.; Richter-Unruh, Annette; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; Hauffa, Berthold P. (2004)
Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation
Clinical dysmorphology 13 (3), S. 183–186. https://doi.org/10.1097/01.mcd.0000134478.87995.4b.

Lohmann, Dietmar R.; Gallie, Brenda L. (2004)
Retinoblastoma: revisiting the model prototype of inherited cancer
American journal of medical genetics. Part C, Seminars in medical genetics 129C (1), S. 23–28. https://doi.org/10.1002/ajmg.c.30024.

Nazlican, Hülya; Zeschnigk, Michael; Claussen, Uwe; Michel, Susanne; Boehringer, Stefan; Gillessen-Kaesbach, Gabriele; Buiting, Karin; Horsthemke, Bernhard (2004)
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
Human Molecular Genetics 13 (21), S. 2547–2555. https://doi.org/10.1093/hmg/ddh296.

Raca, Gordana; Buiting, Karin; Das, Soma (2004)
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR
Genetic testing 8 (4), S. 387–394. https://doi.org/10.1089/gte.2004.8.387.

Reinhard, Thomas; Böhringer, Daniel; Enczmann, Jürgen; Kögler, Gesine; Wernet, Peter; Böhringer, Stefan; Sundmacher, Rainer (2004)
HLA class I/II matching and chronic endothelial cell loss in penetrating normal risk keratoplasty
Acta ophthalmologica Scandinavica 82 (1), S. 13–18. https://doi.org/10.1046/j.1600-0420.2003.00188.x.

Richter-Unruh, Annette; Knauer-Fischer, Sabine; Kaspers, Stefan; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; Hauffa, Berthold P. (2004)
Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment
European journal of pediatrics 163 (4-5), S. 251–256. https://doi.org/10.1007/s00431-004-1406-0.

Riedl, S.; Giedion, A.; Schweitzer, K.; Müllner-Eidenböck, A.; Grill, F.; Frisch, H.; Lüdecke, H-J (2004)
Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency
Am. J. Med. Genet. 131 (2), S. 200–203. https://doi.org/10.1002/ajmg.a.30374.

Runte, Maren; Kroisel, Peter M.; Gillessen-Kaesbach, Gabriele; Varon, Raymonda; Horn, Denise; Cohen, Monika Y.; Wagstaff, Joseph; Horsthemke, Bernhard; Buiting, Karin (2004)
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
Hum Genet 114 (6), S. 553–561. https://doi.org/10.1007/s00439-004-1104-z.

Teber, Ozge Altug; Gillessen-Kaesbach, Gabriele; Fischer, Sven; Böhringer, Stefan; Albrecht, Beate; Albert, Angelika; Arslan-Kirchner, Mine; Haan, Eric; Hagedorn-Greiwe, Monika; Hammans, Christof; Henn, Wolfram; Hinkel, Georg Klaus; König, Rainer; Kunstmann, Erdmute; Kunze, Jürgen; Neumann, Luitgard M.; Prott, Eva-Christina; Rauch, Anita; Rott, Hans-Dieter; Seidel, Heide; Spranger, Stephanie; Sprengel, Martin; Zoll, Barbara; Lohmann, Dietmar R.; Wieczorek, Dagmar (2004)
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
European journal of human genetics : EJHG 12 (11), S. 879–890. https://doi.org/10.1038/sj.ejhg.5201260.

Walter, C.; Rehder, H.; Gillessen-Kaesbach, G. (2004)
Wachstumsretardierung, Syndaktylien und kraniofaziale Dysmorphien
Monatsschrift Kinderheilkunde 152 (3), S. 326–328. https://doi.org/10.1007/s00112-003-0846-3.

Zeschnigk, Michael; Böhringer, Stefan; Price, Elizabeth Ann; Onadim, Zerrin; Masshöfer, Lars; Lohmann, Dietmar R. (2004)
A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA)
analysis of the retinoblastoma locus
Nucleic acids research 32 (16), e125. https://doi.org/10.1093/nar/gnh122.

2003

Böhringer, Stefan; Hardt, Cornelia; Miterski, Bianca; Steland, Ansgar; Epplen, Jörg T. (2003)
Multilocus statistics to uncover epistasis and heterogeneity in complex diseases: revisiting a set of multiple sclerosis data
European journal of human genetics : EJHG 11 (8), S. 573–584. https://doi.org/10.1038/sj.ejhg.5201008.

Buiting, Karin; Gross, Stephanie; Lich, Christina; Gillessen-Kaesbach, Gabriele; el-Maarri, Osman; Horsthemke, Bernhard (2003)
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect
American journal of human genetics 72 (3), S. 571–577. https://doi.org/10.1086/367926.

Horsthemke, Bernhard; Lich, Christina; Buiting, Karin; Achmann, Roland; Aulehla-Scholz, Christa; Baumer, Alessandra; Bürger, Joachim; Dworniczak, Bernd; Gläser, Dieter; Holinski-Feder, Elke; Janssen, Bart; Kleinle, Stephanie; Kochhan, Lothar; Krasemann, Ernst; Kraus, Cornelia; Kroisel, Peter; Plendl, Hansjörg; Purmann, Sabine; Sander, Gabriele; Skladny, Heyko; Spitzer, Eva; Thamm-Mücke, Barbara; Varon-Mateeva, Raymonda; Weinhäusel, Andreas; Weirich, Helga (2003)
Problems in detecting mosaic DNA methylation in Angelman syndrome
European journal of human genetics : EJHG 11 (12), S. 913–915. https://doi.org/10.1038/sj.ejhg.5201078.

Horsthemke, Bernhard; Nazlican, Hülya; Hüsing, Johannes; Klein-Hitpass, Ludger; Claussen, Uwe; Michel, Susanne; Lich, Christina; Gillessen-Kaesbach, Gabriele; Buiting, Karin (2003)
Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
Human Molecular Genetics 12 (20), S. 2723–2732. https://doi.org/10.1093/hmg/ddg291.

Hülskamp, Georg; Wieczorek, Dagmar; Rieder, Harald; Louwen, Frank; Hörnig-Franz, Isabell; Rickert, Christian H.; Horst, Jürgen; Harms, Erik; Rehder, Helga (2003)
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome
Clinical dysmorphology 12 (3), S. 153–160. https://doi.org/10.1097/01.mcd.0000080413.95344.60.

Hüsing, Johannes; Zeschnigk, Michael; Boes, Tanja; Jöckel, Karl-Heinz (2003)
Combining DNA expression with positional information to detect functional silencing of chromosomal regions
Bioinformatics (Oxford, England) 19 (18), S. 2335–2342. https://doi.org/10.1093/bioinformatics/btg314.

Kaiser, Frank J.; Möröy, Tarik; Chang, Glenn T. G.; Horsthemke, Bernhard; Lüdecke, Hermann-Josef (2003)
The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factor
The Journal of biological chemistry 278 (40), S. 38780–38785. https://doi.org/10.1074/jbc.M306259200.

Kaiser, Frank J.; Tavassoli, Kamiab; van den Bemd, Gert-Jan; Chang, Glenn T. G.; Horsthemke, Bernhard; Möröy, Tarik; Lüdecke, Hermann-Josef (2003)
Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1
Human Molecular Genetics 12 (11), S. 1349–1358. https://doi.org/10.1093/hmg/ddg145.

Loos, Hartmut S.; Wieczorek, Dagmar; Würtz, Rolf P.; Malsburg, Christoph von der; Horsthemke, Bernhard (2003)
Computer-based recognition of dysmorphic faces
European journal of human genetics : EJHG 11 (8), S. 555–560. https://doi.org/10.1038/sj.ejhg.5200997.

Musante, Luciana; Kehl, Hans G.; Majewski, Frank; Meinecke, Peter; Schweiger, Susann; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Hinkel, Georg K.; Tinschert, Sigrid; Hoeltzenbein, Maria; Ropers, Hans-Hilger; Kalscheuer, Vera M. (2003)
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
European journal of human genetics : EJHG 11 (2), S. 201–206. https://doi.org/10.1038/sj.ejhg.5200935.

Nietzel, A.; Albrecht, B.; Starke, H.; Heller, A.; Gillessen-Kaesbach, G.; Claussen, U.; Liehr, T. (2003)
Partial hexasomy 15pter–15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report
J Med Genet 40 (3), e28. https://doi.org/10.1136/jmg.40.3.e28.

Ørstavik, K. H.; Eiklid, K.; van der Hagen, C. B.; Spetalen, S.; Kierulf, K.; Skjeldal, O.; Buiting, K. (2003)
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection
American journal of human genetics 72 (1), S. 218–219. https://doi.org/10.1086/346030.

Roessler, Erich; Du, Yang-Zhu; Mullor, Jose L.; Casas, Esther; Allen, William P.; Gillessen-Kaesbach, Gabriele; Roeder, Elizabeth R.; Ming, Jeffrey E.; Ruiz i Altaba, Ariel; Muenke, Maximilian (2003)
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
Proceedings of the National Academy of Sciences of the United States of America 100 (23), S. 13424–13429. https://doi.org/10.1073/pnas.2235734100.

Starke, Heike; Nietzel, Angela; Weise, Anja; Heller, Anita; Mrasek, Kristin; Belitz, Britta; Kelbova, Christine; Volleth, Marianne; Albrecht, Beate; Mitulla, Beate; Trappe, Ralf; Bartels, Iris; Adolph, Sabine; Dufke, Andreas; Singer, Sylke; Stumm, Markus; Wegner, Rolf-Dieter; Seidel, Jörg; Schmidt, Angela; Kuechler, Alma; Schreyer, Isolde; Claussen, Uwe; Eggeling, Ferdinand von; Liehr, Thomas (2003)
Small supernumerary marker chromosomes (SMCs)
genotype-phenotype correlation and classification
Hum Genet 114 (1), S. 51–67. https://doi.org/10.1007/s00439-003-1016-3.

Tröger, Birte; Kutsche, Kerstin; Bolz, Hanno; Lüttgen, Sabine; Gal, Andreas; Almassy, Zsuzsanna; Caliebe, Almuth; Freisinger, Peter; Hobbiebrunken, Elke; Morlot, Michel; Stefanova, Margarita; Streubel, Berthold; Wieczorek, Dagmar; Meinecke, Peter (2003)
No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. Am. J. Med. Genet. 121A (1), S. 82–84. https://doi.org/10.1002/ajmg.a.20122.

Tschentscher, Frank; Hüsing, Johannes; Hölter, Tanja; Kruse, Elisabeth; Dresen, Irina Gana; Jöckel, Karl-Heinz; Anastassiou, Gerasimos; Schilling, Harald; Bornfeld, Norbert; Horsthemke, Bernhard; Lohmann, Dietmar Rudolf; Zeschnigk, Michael (2003)
Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities
Cancer research 63 (10), S. 2578–2584.

Türkmen, Seval; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Albrecht, Beate; Neumann, Luitgard M.; Hesse, Volker; Palanduz, Sükrü; Balg, Stefanie; Majewski, Frank; Fuchs, Sigrun; Zschieschang, Petra; Greiwe, Monika; Mennicke, Kirsten; Kreuz, Friedmar R.; Dehmel, Harald J.; Rodeck, Burkhard; Kunze, Jürgen; Tinschert, Sigrid; Mundlos, Stefan; Horn, Denise (2003)
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
European journal of human genetics : EJHG 11 (11), S. 858–865. https://doi.org/10.1038/sj.ejhg.5201050.

Wieczorek, Dagmar; Bartsch, Oliver; Gillessen-Kaesbach, Gabriele (2003)
Distal monosomy 18p/distal trisomy 20p—a recognizable facial phenotype?
Am. J. Med. Genet. 120A (3), S. 429–433. https://doi.org/10.1002/ajmg.a.20060.

Wieczorek, Dagmar; Prott, Eva C.; Robinson, Wendy P.; Passarge, Eberhard; Gillessen-Kaesbach, Gabriele (2003)
Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype
Prenatal diagnosis 23 (2), S. 128–133. https://doi.org/10.1002/pd.557.

Wieczorek, Dagmar; Teber, Ozge Altug; Lohmann, Dietmar; Gillessen-Kaesbach, Gabriele (2003)
Two brothers with Burn-McKeown syndrome
Clinical dysmorphology 12 (3), S. 171–174. https://doi.org/10.1097/01.mcd.0000072163.33788.c4.

Windpassinger, C.; Petek, E.; Wagner, K.; Langmann, A.; Buiting, K.; Kroisel, P. M. (2003)
Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment
Clinical genetics 63 (4), S. 297–302. https://doi.org/10.1034/j.1399-0004.2003.00059.x.

Zeschnigk, Michael; Tschentscher, Frank; Lich, Christina; Brandt, Birgit; Horsthemke, Bernhard; Lohmann, Dietmar R. (2003)
Methylation analysis of several tumour suppressor genes shows a low frequency of methylation of CDKN2A and RARB in uveal melanomas
Comparative and functional genomics 4 (3), S. 329–336. https://doi.org/10.1002/cfg.295.

2002

Albrecht, Beate; Gillessen-Kaesbach, Gabriele; Fastnacht, Elisabeth; Langer, Leonard O. (2002)
Two further patients with a precocious type of osteodysplasia
American journal of medical genetics 109 (3), S. 231–233. https://doi.org/10.1002/ajmg.10329.

Anastassiou, Gerasimos; Tschentscher, Frank; Zeschnigk, Michael; Bornfeld, Norbert (2002)
Cadherin expression in uveal melanoma
Experimental eye research 74 (3), S. 423–425. https://doi.org/10.1006/exer.2002.1140.

Anastassiou, G.; Tschentscher, F.; Zeschnigk, M. (2002)
Prognostisch relevante Marker bei malignem Melanom der Uvea
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 99 (5), S. 327–332. https://doi.org/10.1007/s00347-002-0635-8.

Böhringer, D.; Reinhard, T.; Böhringer, S.; Enczmann, J.; Godehard, E.; Sundmacher, R. (2002)
Predicting time on the waiting list for HLA matched corneal grafts
Tissue antigens 59 (5), S. 407–411. https://doi.org/10.1034/j.1399-0039.2002.590507.x.

Cox, Gerald F.; Bürger, Joachim; Lip, Va; Mau, Ulrike A.; Sperling, Karl; Wu, Bai-Lin; Horsthemke, Bernhard (2002)
Intracytoplasmic sperm injection may increase the risk of imprinting defects
American journal of human genetics 71 (1), S. 162–164. https://doi.org/10.1086/341096.

Giglio, Sabrina; Calvari, Vladimiro; Gregato, Giuliana; Gimelli, Giorgio; Camanini, Silvia; Giorda, Roberto; Ragusa, Angela; Guerneri, Silvana; Selicorni, Angelo; Stumm, Marcus; Tonnies, Holger; Ventura, Mario; Zollino, Marcella; Neri, Giovanni; Barber, John; Wieczorek, Dagmar; Rocchi, Mariano; Zuffardi, Orsetta (2002)
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
American journal of human genetics 71 (2), S. 276–285. https://doi.org/10.1086/341610.

Klinge, L.; Schaper, J.; Wieczorek, D.; Voit, T. (2002)
Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature
Neuropediatrics 33 (6), S. 309–313. https://doi.org/10.1055/s-2002-37086.

Klutz, Martina; Brockmann, Dieter; Lohmann, Dietmar R. (2002)
A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene
American journal of human genetics 71 (1), S. 174–179. https://doi.org/10.1086/341284.

Kunath, Melanie; Lüdecke, Hermann-Josef; Vortkamp, Andrea (2002)
RETRACTED: Expression of Trps1 during mouse embryonic development
Gene Expression Patterns 2 (1-2), S. 119–122. https://doi.org/10.1016/S0925-4773(02)00300-3.

Kutsche, K.; Ressler, B.; Katzera, H.-G.; Orth, U.; Gillessen-Kaesbach, G.; Morlot, S.; Gal, A. (2002)
Molecular characterization of deletions in the ALD (ABCD1) and L1CAM genes in Xq28
Hum Mut (19), S. 526–535. https://doi.org/10.1002/humu.10072

Schmeling, Heinrike; Gillessen-Kaesbach, G.; Schulte-Mattler, U.; Burdach, S.; Horneff, G. (2002)
Das Prader-Labhart-Willi-Syndrom im Säuglingsalter
Klinische Padiatrie 214 (2), S. 51–53. https://doi.org/10.1055/s-2002-25265.

Starke, H.; Seidel, J.; Henn, W.; Reichardt, S.; Volleth, M.; Stumm, M.; Behrend, Ch.; Sandig, K. R.; Kelbova, Ch.; Senger, G.; Albrecht, B.; Hansmann, I.; Heller, A.; Claussen, U.; Liehr, T. (2002)
The regions 9p12 and 9q13-21.1 contain highly homologous sequences – towards a better understanding of the heteromorphic patterns in chromosome 9
Europ J Hum Genet (10), S. 790–800. https://doi.org/10.1038/sj.ejhg.5200889

Wieczorek, Dagmar; Köster, Bernhard; Gillessen-Kaesbach, Gabriele (2002)
Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation
American journal of medical genetics 108 (3), S. 209–213. https://doi.org/10.1002/ajmg.10271.

Wuyts, Wim; Roland, Dominique; Lüdecke, Hermann-Josef; Wauters, Jan; Foulon, Martine; van Hul, Wim; van Maldergem, Lionel (2002)
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion
American journal of medical genetics 113 (4), S. 326–332. https://doi.org/10.1002/ajmg.10845.

Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita (2002)
„Mowat-Wilson“ syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
American journal of medical genetics 108 (3), S. 177–181. https://doi.org/10.1002/ajmg.10226.

2001

Albrecht, B.; Mergenthaler, S.; Eggermann, K.; Zerres, K.; Passarge, E.; Eggermann, T. (2001)
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)
J Med Genet 38 (3), S. 214. https://doi.org/10.1136/jmg.38.3.214.

Bernard, Mark A.; Hall, Catherine E.; Hogue, Deborah A.; Cole, William G.; Scott, Allison; Snuggs, Mark B.; Clines, Gregory A.; Ldecke, Hermann-Josef; Lovett, Michael; van Winkle, W. Barry; Hecht, Jacqueline T. (2001)
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes
Cell Motil. Cytoskeleton 48 (2), S. 149–162. https://doi.org/10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3.

Brown, L. Y.; Odent, S.; David, V.; Blayau, M.; Dubourg, C.; Apacik, C.; Delgado, M. A.; Hall, B. D.; Reynolds, J. F.; Sommer, A.; Wieczorek, D.; Brown, S. A.; Muenke, M. (2001)
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
Human Molecular Genetics 10 (8), S. 791–796. https://doi.org/10.1093/hmg/10.8.791.

Buiting, K.; Barnicoat, A.; Lich, C.; Pembrey, M.; Malcolm, S.; Horsthemke, B. (2001)
Disruption of the bipartite imprinting center in a family with Angelman syndrome
American journal of human genetics 68 (5), S. 1290–1294. https://doi.org/10.1086/320120.

Buiting, K.; Gillessen-Kaesbach, G. (2001)
Genomisches Imprinting bei kinderärztlich relevanten Fragestellungen
Medgen (13), S. 124–128.

El-Maarri, O.; Buiting, K.; Peery, E. G.; Kroisel, P. M.; Balaban, B.; Wagner, K.; Urman, B.; Heyd, J.; Lich, C.; Brannan, C. I.; Walter, J.; Horsthemke, B. (2001)
Maternal methylation imprints on human chromosome 15 are established during or after fertilization. Nature genetics 27 (3), S. 341–344. https://doi.org/10.1038/85927.

Genuardi, M.; Klutz, M.; Devriendt, K.; Caruso, D.; Stirpe, M.; Lohmann, D. R. (2001)
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma
European journal of human genetics : EJHG 9 (9), S. 690–694. https://doi.org/10.1038/sj.ejhg.5200694.

Hauffa, B. P.; Schlippe, G.; Gillessen-Kaesbach, G. (2001)
Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS)
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 25 Suppl 1, S22-5. https://doi.org/10.1038/sj.ijo.0801691.

Herzog, S.; Lohmann, D. R.; Buiting, K.; Schüler, A.; Horsthemke, B.; Rehder, H.; Rieder, H. (2001)
Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization. Hum Genet 108 (2), S. 98–104. https://doi.org/10.1007/s004390000450.

Horsthemke, B.; Bartsch, O.; Bürger, J.; Buiting, K.; Gillessen-Kaesbach, G.; Janssen, B. (2001)
Leitlinien für die molekulare und cytogenetische Diagnostik bei Prader-Willi-Syndrom und Angelman-Syndrom
medgen 13 (1), S. 71–73.

Lüdecke, H. J.; Schaper, J.; Meinecke, P.; Momeni, P.; Gross, S.; Holtum, D. von; Hirche, H.; Abramowicz, M. J.; Albrecht, B.; Apacik, C.; Christen, H. J.; Claussen, U.; Devriendt, K.; Fastnacht, E.; Forderer, A.; Friedrich, U.; Goodship, T. H.; Greiwe, M.; Hamm, H.; Hennekam, R. C.; Hinkel, G. K.; Hoeltzenbein, M.; Kayserili, H.; Majewski, F.; Mathieu, M.; McLeod, R.; Midro, A. T.; Moog, U.; Nagai, T.; Niikawa, N.; Orstavik, K. H.; Plöchl, E.; Seitz, C.; Schmidtke, J.; Tranebjaerg, L.; Tsukahara, M.; Wittwer, B.; Zabel, B.; Gillessen-Kaesbach, G.; Horsthemke, B. (2001)
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
American journal of human genetics 68 (1), S. 81–91. https://doi.org/10.1086/316926.

Remus, Ralph; Zeschnigk, Michael; Zuther, Ines; Kanzaki, Akio; Wada, HidehoAkio; Yawata, Ayumi; Muiznieks, Indrikis; Schmitz, Birgit; Schell, Gudrun; Yawata, Yoshihito; Doerfler, Walter (2001)
The state of DNA methylation in the promoter regions of the human red cell membrane protein (band 3, protein 4.2, andβ-spectrin) genes
Gene Funct. Dis. 2 (4), S. 171–184. https://doi.org/10.1002/1438-826X(200112)2:4<171::AID-GNFD171>3.0.CO;2-O.

Runte, M.; Färber, C.; Lich, C.; Zeschnigk, M.; Buchholz, T.; Smith, A.; van Maldergem, L.; Bürger, J.; Muscatelli, F.; Gillessen-Kaesbach, G.; Horsthemke, B.; Buiting, K. (2001)
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15
European journal of human genetics : EJHG 9 (7), S. 519–526. https://doi.org/10.1038/sj.ejhg.5200661.

Runte, M.; Hüttenhofer, A.; Gross, S.; Kiefmann, M.; Horsthemke, B.; Buiting, K. (2001)
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
Human Molecular Genetics 10 (23), S. 2687–2700. https://doi.org/10.1093/hmg/10.23.2687.

Seitz, C. S.; Lüdecke, H. J.; Wagner, N.; Bröcker, E. B.; Hamm, H. (2001)
Trichorhinophalangeal syndrome type I: clinical and molecular characterization of 3 members of a family and 1 sporadic case
Archives of dermatology 137 (11), S. 1437–1442. https://doi.org/10.1001/archderm.137.11.1437.

Silverstein, S.; Lerer, I.; Buiting, K.; Abeliovich, D. (2001)
The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population
American journal of human genetics 68 (1), S. 261–263. https://doi.org/10.1086/316943.

Tschentscher, F.; Prescher, G.; Horsman, D. E.; White, V. A.; Rieder, H.; Anastassiou, G.; Schilling, H.; Bornfeld, N.; Bartz-Schmidt, K. U.; Horsthemke, B.; Lohmann, D. R.; Zeschnigk, M. (2001)
Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma
Cancer research 61 (8), S. 3439–3442.

Wieczorek, D.; Wüsthof, A.; Harms, E.; Meinecke, P. (2001)
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other
American journal of medical genetics 104 (1), S. 47–52. https://doi.org/10.1002/ajmg.1585.

Wirth, J.; Back, E.; Hüttenhofer, A.; Nothwang, H. G.; Lich, C.; Gross, S.; Menzel, C.; Schinzel, A.; Kioschis, P.; Tommerup, N.; Ropers, H. H.; Horsthemke, B.; Buiting, K. (2001)
A translocation breakpoint cluster disrupts the newly defined 3‘ end of the SNURF-SNRPN transcription unit on chromosome 15
Human Molecular Genetics 10 (3), S. 201–210. https://doi.org/10.1093/hmg/10.3.201.

Witsch-Baumgartner, M.; Ciara, E.; Löffler, J.; Menzel, H. J.; Seedorf, U.; Burn, J.; Gillessen-Kaesbach, G.; Hoffmann, G. F.; Fitzky, B. U.; Mundy, H.; Clayton, P.; Kelley, R. I.; Krajewska-Walasek, M.; Utermann, G. (2001)
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
European journal of human genetics : EJHG 9 (1), S. 45–50. https://doi.org/10.1038/sj.ejhg.5200579.

Zhu, G.; Bartsch, O.; Wan, M.; Gillessen-Kaesbach, G.; Passarge, E. (2001)
Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 18 (2), S. 96–99.

Zhu, Guanshan; Gillessen-Kaesbach, Gabriele; Wirth, Jutta; Passarge, Eberhard; Bartsch, Oliver (2001)
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2)
American journal of medical genetics 98 (4), S. 317–319. https://doi.org/10.1002/1096-8628(20010201)98:4<317::AID-AJMG1129>3.0.CO;2-E.

2000

Bielinska, B.; Blaydes, S. M.; Buiting, K.; Yang, T.; Krajewska-Walasek, M.; Horsthemke, B.; Brannan, C. I. (2000)
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
Nature genetics 25 (1), S. 74–78. https://doi.org/10.1038/75629.

Buiting, K.; Färber, C.; Kroisel, P.; Wagner, K.; Brueton, L.; Robertson, M. E.; Lich, C.; Horsthemke, B. (2000)
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling
Clinical genetics 58 (4), S. 284–290. https://doi.org/10.1034/j.1399-0004.2000.580406.x.

Cavaille. J.; Buiting, K.; Kiefmann, M.; Lalande, M.; Brannan, C.; Horsthemke, B.; Bachellerie, J. P.; Brosius, J.; Hüttenhofer, A. (2000)
Identification of imprinted, tissue-specific C/D box small nucleolar RNA genes in the Prader-Willi syndrome region
Proc Natl Acad Sci USA (97), S. 14311–14316. https://doi.org/10.1073/pnas.250426397

Dan, B. (2000)
Phenotype in patients with Angelman syndrome
European journal of human genetics : EJHG 8 (4), S. 241. https://doi.org/10.1038/sj.ejhg.5200456.

Färber, C.; Gross, S.; Neesen, J.; Buiting, K.; Horsthemke, B. (2000)
Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
Genomics 65 (2), S. 174–183. https://doi.org/10.1006/geno.2000.6158.

Ghlich-Ratmann, Gudrun; Lackner, Anja; Schaper, J.; Voit, T.; Gillessen-Kaesbach, Gabriele (2000)
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?
American journal of medical genetics 95 (3), S. 241–246. https://doi.org/10.1002/1096-8628(20001127)95:3<241::AID-AJMG11>3.0.CO;2-N.

Hauffa, B. P.; Schlippe, G.; Roos, M.; Gillessen-Kaesbach, G.; Gasser, T. (2000)
Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome
Acta Paediatrica 89 (11), S. 1302–1311. https://doi.org/10.1111/j.1651-2227.2000.tb00755.x.

Körner, Iris; Fischer, Britta; Beetz, Rolf; Buiting, Karin; Wingen, Anne-Margret; Rübben, Herbert; Wienker, Thomas F.; Horsthemke, Bernhard; Gillessen-Kaesbach, Gabriele (2000)
Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux
Gene Funct. Dis. 1 (5-6), S. 202–207. https://doi.org/10.1002/1438-826X(200012)1:5/6<202::AID-GNFD202>3.0.CO;2-5.

Krings, M.; Capelli, C.; Tschentscher, F.; Geisert, H.; Meyer, S.; Haeseler, A. von; Grossschmidt, K.; Possnert, G.; Paunovic, M.; Pääbo, S. (2000)
A view of Neandertal genetic diversity
Nature genetics 26 (2), S. 144–146. https://doi.org/10.1038/79855.

Kuschel, B.; Gillessen-Kaesbach, G. (2000)
Trisomy 13 with bilateral hand oligodactyly
American journal of medical genetics 90 (1), S. 87–88.

Lohmann, D. R.; Gillessen-Kaesbach, G. (2000)
Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome. Clinical dysmorphology 9 (4), S. 301–302. https://doi.org/10.1097/00019605-200009040-00017.

Momeni, P.; Glöckner, G.; Schmidt, O.; Holtum, D. von; Albrecht, B.; Gillessen-Kaesbach, G.; Hennekam, R.; Meinecke, P.; Zabel, B.; Rosenthal, A.; Horsthemke, B.; Lüdecke, H. J. (2000)
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
Nature genetics 24 (1), S. 71–74. https://doi.org/10.1038/71717.

Partsch, C. A.; Lämmer, C.; Gillessen-Kaesbach, G.; Pankau, R. (2000)
Adult patients with Prader-Willi syndrome: Clinical characteristics, life circumstances and growth hormone secretion
Growth Hormone & IGF Research 10, S81-S85. https://doi.org/10.1016/S1096-6374(00)80015-5.

Passarge, E. (2000)
A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)
Cytogenetics and cell genetics 91 (1-4), S. 192–198. https://doi.org/10.1159/000056843.

Passarge, E. (2000)
Genetik Atlasi.

Passarge, E. (2000)
Genetische Grundlagen der Inneren Medizin, S. 21–54.

Passarge E., Plambeck A., Naujoks A., Zhu GS., Zenker M. (2000)
Increased rate of a sister-chromatid exchanges in a pregnancy at risk for Bloom syndrome
American journal of human genetics 4 (Vol. 67).

Ramsing, Mette; Gillessen-Kaesbach, Gabriele; Holzgreve, Wolfgang; Fritz, Barbara; Rehder, Helga (2000)
Variability in the phenotypic expression of Fryns syndrome: A report of two sibships
American journal of medical genetics 95 (5), S. 415–424. https://doi.org/10.1002/1096-8628(20001218)95:5<415::AID-AJMG2>3.0.CO;2-J.

Schwabe, G. C.; Tinschert, S.; Buschow, C.; Meinecke, P.; Wolff, G.; Gillessen-Kaesbach, G.; Oldridge, M.; Wilkie, A. O.; Kömec, R.; Mundlos, S. (2000)
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B
American journal of human genetics 67 (4), S. 822–831. https://doi.org/10.1086/303084.

Schwartz, C. E.; Gillessen-Kaesbach, G.; May, M.; Cappa, M.; Gorski, J.; Steindl, K.; Neri, G. (2000)
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
European journal of human genetics : EJHG 8 (11), S. 869–874. https://doi.org/10.1038/sj.ejhg.5200553.

Shemer, R.; Hershko, A. Y.; Perk, J.; Mostoslavsky, R.; Tsuberi, B.; Cedar, H.; Buiting, K.; Razin, A. (2000)
The imprinting box of the Prader-Willi/Angelman syndrome domain
Nature genetics 26 (4), S. 440–443. https://doi.org/10.1038/82571.

Thiels, Ch.; Schara, U.; Albrecht, B.; Hohendahl, J.; Rieger, C. (2000)
Erweitertes okulo-aurikulo-vertebrales Spektrum
Pädiat Praxis (58), S. 131–138.

Tschentscher, Frank; Prescher, Gabriele; Zeschnigk, Michael; Horsthemke, Bernhard; Lohmann, Dietmar R. (2000)
Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization
Cancer Genetics and Cytogenetics 122 (1), S. 13–17. https://doi.org/10.1016/S0165-4608(00)00266-1.

Widschwendter, M.; Berger, J.; Hermann, M.; Müller, H. M.; Amberger, A.; Zeschnigk, M.; Widschwendter, A.; Abendstein, B.; Zeimet, A. G.; Daxenbichler, G.; Marth, C. (2000)
Methylation and silencing of the retinoic acid receptor-beta2 gene in breast cancer
Journal of the National Cancer Institute 92 (10), S. 826–832. https://doi.org/10.1093/jnci/92.10.826.

Wieczorek, D.; Krause, M.; Majewski, F.; Albrecht, B.; Horn, D.; Riess, O.; Gillessen-Kaesbach, G. (2000)
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
European journal of human genetics : EJHG 8 (7), S. 519–526. https://doi.org/10.1038/sj.ejhg.5200498.

Wieczorek, D.; Krause, M.; Majewski, F.; Albrecht, B.; Meinecke, P.; Riess, O.; Gillessen-Kaesbach, G. (2000)
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)
J Med Genet 37 (10), S. 798–804. https://doi.org/10.1136/jmg.37.10.798.

Witsch-Baumgartner, M.; Fitzky, B. U.; Ogorelkova, M.; Kraft, H. G.; Moebius, F. F.; Glossmann, H.; Seedorf, U.; Gillessen-Kaesbach, G.; Hoffmann, G. F.; Clayton, P.; Kelley, R. I.; Utermann, G. (2000)
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
American journal of human genetics 66 (2), S. 402–412. https://doi.org/10.1086/302760.

1993

Lohmann, Dietmar R.; Gallie, Brenda L. (1993)
GeneReviews®. Retinoblastoma.
Hg. v. Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace, Lora J. H. Bean, Karen Stephens und Anne Amemiya. Seattle (WA).

Lüdecke, Hermann-Josef; Wieczorek, Dagmar (1993)
GeneReviews®. Burn-McKeown Syndrome.
Hg. v. Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace, Lora J. H. Bean, Karen Stephens und Anne Amemiya. Seattle (WA).

Min, Rogier; Depienne, Christel; Sedel, Frederic; Abbink, Truus E. M.; van der Knaap, Marjo S. (1993)
GeneReviews®. CLCN2-Related Leukoencephalopathy.
Hg. v. Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace, Lora J. H. Bean, Karen W. Gripp, et al. Seattle (WA).

Schrier Vergano, Samantha; Santen, Gijs; Wieczorek, Dagmar; Wollnik, Bernd; Matsumoto, Naomichi; Deardorff, Matthew A. (1993)
GeneReviews®. Coffin-Siris Syndrome.
Hg. v. Margaret P. Adam, Holly H. Ardinger, Roberta A. Pagon, Stephanie E. Wallace, Lora J. H. Bean, Karen Stephens und Anne Amemiya. Seattle (WA).