Veröffentlichungen
2024
Alefeld, Emily; Haase, André; van Meenen, Dario; Budeus, Bettina; Dräger, Oliver; Miroschnikov, Natalia; Ting, Saskia; Kanber, Deniz; Biewald, Eva; Bechrakis, Nikolaos; Dünker, Nicole; Busch, Maike Anna (2024)
In vitro model of retinoblastoma derived tumor and stromal cells for tumor microenvironment (TME) studies
Cell death & disease 15 (12), S. 905. https://doi.org/10.1038/s41419-024-07285-2.
Baille, Guillaume; Morel, Hélène; Schröder, Christopher; Depienne, Christel; Bonnan, Mickael; Tournier-Lasserve, Elisabeth; Coste, Thibault (2024)
End-truncated CST3 causes severe psychiatric-like symptoms associated with migraine and progressive young-onset dementia
Journal of neurology 271 (11), S. 7316–7320. https://doi.org/10.1007/s00415-024-12691-9.
Benatar, Michael; Hansen, Thomas; Rom, Dror; Geist, Marie A.; Blaettler, Thomas; Camu, William; Kuzma-Kozakiewicz, Magdalena; van den Berg, Leonard H.; Morales, Raul Juntas; Chio, Adriano; Andersen, Peter M.; Pradat, Pierre-Francois; Lange, Dale; van Damme, Philip; Mora, Gabriele; Grudniak, Mariusz; Elliott, Matthew; Petri, Susanne; Olney, Nicholas; Ladha, Shafeeq; Goyal, Namita A.; Meyer, Thomas; Hanna, Michael G.; Quinn, Colin; Genge, Angela; Zinman, Lorne; Jabari, Duaa; Shoesmith, Christen; Ludolph, Albert C.; Neuwirth, Christoph; Nations, Sharon; Shefner, Jeremy M.; Turner, Martin R.; Wuu, Joanne; Bennett, Richard; Dang, Hoang; Sundgreen, Claus (2024)
Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial
The Lancet. Neurology 23 (7), S. 687–699. https://doi.org/10.1016/S1474-4422(24)00134-0.
Bjelica, Bogdan; Wohnrade, Camilla; Osmanovic, Alma; Schreiber-Katz, Olivia; Schuppner, Ramona; Greten, Stephan; Petri, Susanne (2024)
Metabolic syndrome is common in adults with 5q-spinal muscular atrophy and impacts quality of life and fatigue
Muscle & nerve 70 (2), S. 257–264. https://doi.org/10.1002/mus.28183.
Bjelica, Bogdan; Wohnrade, Camilla; Cespedes, Iraima; Osmanovic, Alma; Schreiber-Katz, Olivia; Petri, Susanne (2024)
Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction
BMC neurology 24 (1), S. 67. https://doi.org/10.1186/s12883-024-03562-x.
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Le Fevre, Anna; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola (2024)
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature. https://doi.org/10.1038/s41586-024-07773-7.
Chiu, Celine; Küchler, Alma; Depienne, Christel; Preuße, Corinna; Della Marina, Adela; Reis, Andre; Kaiser, Frank J.; Nolte, Kay; Hentschel, Andreas; Schara-Schmidt, Ulrike; Kölbel, Heike; Roos, Andreas (2024)
Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Skeletal muscle 14 (1), S. 15. https://doi.org/10.1186/s13395-024-00348-0.
Della Marina, Adela; Hentschel, Andreas; Stenzel, Martin; Schara-Schmidt, Ulrike; Osmanovic, Alma; Ruck, Tobias; Grüneboom, Anika; Röbisch, Luisa; Beygo, Jasmin; Kölbel, Heike; Gangfuss, Andrea; Kaiser, Frank J.; Schänzer, Anne; Kale, Dipali; Roos, Andreas (2024)
Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant
Journal of neuropathology and experimental neurology. https://doi.org/10.1093/jnen/nlae071.
Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; Boer, Elke de; Schuermans, Nika; van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; Voer, Richarda de; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Laurie, Steven (2024)
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
NPJ genomic medicine 9 (1), S. 49. https://doi.org/10.1038/s41525-024-00436-6.
Fallois, Jonathan de; Sieckmann, Tobias; Schönauer, Ria; Petzold, Friederike; Münch, Johannes; Pauly, Melissa; Vasileiou, Georgia; Findeisen, Christin; Kampmeier, Antje; Kuechler, Alma; Reis, André; Decker, Eva; Bergmann, Carsten; Platzer, Konrad; Tasic, Velibor; Kirschner, Karin Michaela; Shril, Shirlee; Hildebrandt, Friedhelm; Chung, Wendy K.; Halbritter, Jan (2024)
Pathogenic PHIP Variants are Variably Associated With CAKUT
Kidney international reports 9 (8), S. 2484–2497. https://doi.org/10.1016/j.ekir.2024.05.024.
Gallagher, Declan; Pérez-Palma, Eduardo; Bruenger, Tobias; Ghanty, Ismael; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; Lange, Iris de; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Møller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Zuberi, Sameer M.; Lal, Dennis; Brunklaus, Andreas (2024)
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
Epilepsia 65 (4), S. 1046–1059. https://doi.org/10.1111/epi.17882.
Godfrey, Laura K.; Forster, Jan; Liffers, Sven-Thorsten; Schröder, Christopher; Köster, Johannes; Henschel, Leonie; Ludwig, Kerstin U.; Lähnemann, David; Trajkovic-Arsic, Marija; Behrens, Diana; Scarpa, Aldo; Lawlor, Rita T.; Witzke, Kathrin E.; Sitek, Barbara; Johnsen, Steven A.; Rahmann, Sven; Horsthemke, Bernhard; Zeschnigk, Michael; Siveke, Jens T. (2024)
Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylation
Clinical epigenetics 16 (1), S. 13. https://doi.org/10.1186/s13148-024-01623-z.
Graessner, Holm; Reinhard, Carola; Bäumer, Tobias; Baumgärtner, Annette; Brockmann, Knut; Brüggemann, Norbert; Bültmann, Eva; Erdmann, Jeanette; Heise, Kirstin; Höglinger, Günter; Hüning, Irina; Kaiser, Frank J.; Klein, Christine; Klopstock, Thomas; Krägeloh-Mann, Ingeborg; Kraemer, Markus; Luedtke, Kerstin; Mücke, Martin; Musacchio, Thomas; Nadke, Andreas; Osmanovic, Alma; Ritter, Gabriele; Röse, Katharina; Schippers, Christopher; Schöls, Ludger; Schüle, Rebecca; Schulz, Jörg B.; Sproß, Joachim; Stasch, Eveline; Wunderlich, Gilbert; Münchau, Alexander (2024)
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
Orphanet journal of rare diseases 19 (1), S. 62. https://doi.org/10.1186/s13023-024-03023-1.
Günther, René; Wurster, Claudia Diana; Brakemeier, Svenja; Osmanovic, Alma; Schreiber-Katz, Olivia; Petri, Susanne; Uzelac, Zeljko; Hiebeler, Miriam; Thiele, Simone; Walter, Maggie C.; Weiler, Markus; Kessler, Tobias; Freigang, Maren; Lapp, Hanna Sophie; Cordts, Isabell; Lingor, Paul; Deschauer, Marcus; Hahn, Andreas; Martakis, Kyriakos; Steinbach, Robert; Ilse, Benjamin; Rödiger, Annekathrin; Bellut, Julia; Nentwich, Julia; Zeller, Daniel; Muhandes, Mohamad Tareq; Baum, Tobias; Christoph Koch, Jan; Schrank, Bertold; Fischer, Sophie; Hermann, Andreas; Kamm, Christoph; Naegel, Steffen; Mensch, Alexander; Weber, Markus; Neuwirth, Christoph; Lehmann, Helmar C.; Wunderlich, Gilbert; Stadler, Christian; Tomforde, Maike; George, Annette; Groß, Martin; Pechmann, Astrid; Kirschner, Janbernd; Türk, Matthias; Schimmel, Mareike; Bernert, Günther; Martin, Pascal; Rauscher, Christian; Meyer Zu Hörste, Gerd; Baum, Petra; Löscher, Wolfgang; Flotats-Bastardas, Marina; Köhler, Cornelia; Probst-Schendzielorz, Kristina; Goldbach, Susanne; Schara-Schmidt, Ulrike; Müller-Felber, Wolfgang; Lochmüller, Hanns; Velsen, Otgonzul von; Kleinschnitz, Christoph; Ludolph, Albert C.; Hagenacker, Tim (2024)
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
The Lancet regional health. Europe 39, S. 100862. https://doi.org/10.1016/j.lanepe.2024.100862.
Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; Waard, Vivian de; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Galazzi, Elena; van Gils, Julien; Hurst, Anna C. E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A. (2024)
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
HGG advances 5 (3), S. 100287. https://doi.org/10.1016/j.xhgg.2024.100287.
Herwig-Carl, Martina C.; Sharma, Amit; Tischler, Verena; Pelusi, Natalie; Loeffler, Karin U.; Holz, Frank G.; Zeschnigk, Michael; Landreville, Solange; Auw-Haedrich, Claudia; Noberini, Roberta; Bonaldi, Tiziana (2024)
Mass Spectrometry-Based Profiling of Histone Post-Translational Modifications in Uveal Melanoma Tissues, Human Melanocytes, and Uveal Melanoma Cell Lines – A Pilot Study
Investigative ophthalmology & visual science 65 (2), S. 27. https://doi.org/10.1167/iovs.65.2.27.
Holst, Svenja; Weber, Anna K.; Meier, Friedegund; Otte, Jörg; Petzsch, Patrick; Reifenberger, Julia; Wachtmeister, Thorsten; Westphal, Dana; Ziemer, Mirjana; Wruck, Wasco; Adjaye, James; Betz, Regina C.; Rütten, Arno; Surowy, Harald M.; Redler, Silke (2024)
Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 22 (8), S. 1115–1124. https://doi.org/10.1111/ddg.15445.
Horsthemke, Bernhard (2024)
The role of epigenetics in rare diseases
medgen 36 (2), S. 111–120. https://doi.org/10.1515/medgen-2024-2014.
Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan (2024)
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
American journal of human genetics 111 (6), S. 1206–1221. https://doi.org/10.1016/j.ajhg.2024.04.019.
Kerp, Helena; Gassen, Janina; Grund, Susanne Camilla; Hönes, Georg Sebastian; Dörr, Stefanie; Mittag, Jens; Härting, Nina; Kaiser, Frank; Moeller, Lars Christian; Lorenz, Kristina; Führer, Dagmar (2024)
Cardiac recovery from pressure overload is not altered by thyroid hormone status in old mice
Frontiers in endocrinology 15, S. 1339741. https://doi.org/10.3389/fendo.2024.1339741.
Kirchberg, Ina; Lainka, Elke; Gangfuß, Andrea; Kuechler, Alma; Baertling, Fabian; Schlieben, Lea D.; Lenz, Dominic; Tschiedel, Eva (2024)
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
Frontiers in pediatrics 12, S. 1278047. https://doi.org/10.3389/fped.2024.1278047.
Laabs, Björn-Hergen; Lohmann, Katja; Vollstedt, Eva-Juliane; Reinberger, Tobias; Nuxoll, Lisa-Marie; Kilic-Berkmen, Gamze; Perlmutter, Joel S.; Loens, Sebastian; Cruchaga, Carlos; Franke, Andre; Dobricic, Valerija; Hinrichs, Frauke; Grözinger, Anne; Altenmüller, Eckart; Bellows, Steven; Boesch, Sylvia; Bressman, Susan B.; Duque, Kevin R.; Espay, Alberto J.; Ferbert, Andreas; Feuerstein, Jeanne S.; Frank, Samuel; Gasser, Thomas; Haslinger, Bernhard; Jech, Robert; Kaiser, Frank; Kamm, Christoph; Kollewe, Katja; Kühn, Andrea A.; LeDoux, Mark S.; Lohmann, Ebba; Mahajan, Abhimanyu; Münchau, Alexander; Multhaupt-Buell, Trisha; Pantelyat, Alexander; Pirio Richardson, Sarah E.; Raymond, Deborah; Reich, Stephen G.; Saunders Pullman, Rachel; Schormair, Barbara; Sharma, Nutan; Sichani, Azadeh Hamzehei; Simonyan, Kristina; Volkmann, Jens; Wagle Shukla, Aparna; Winkelmann, Juliane; Wright, Laura J.; Zech, Michael; Zeuner, Kirsten E.; Zittel, Simone; Kasten, Meike; Sun, Yan V.; Bäumer, Tobias; Brüggemann, Norbert; Ozelius, Laurie J.; Jinnah, Hyder A.; Klein, Christine; König, Inke R. (2024)
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies
Movement disorders : official journal of the Movement Disorder Society 39 (11), S. 2110–2116. https://doi.org/10.1002/mds.29968.
Le Guin, C. H. D.; Barwinski, N.; Zeschnigk, M.; Bechrakis, N. E. (2024)
Die „onkologische Spur“: zirkulierende Tumor-DNA beim Aderhautmelanom
Die Ophthalmologie 121 (12), S. 963–968. https://doi.org/10.1007/s00347-024-02139-w.
Leitão, E.; Schröder, C.; Depienne, C. (2024)
Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies
Revue neurologique 180 (5), S. 383–392. https://doi.org/10.1016/j.neurol.2024.03.005.
Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; La Calle-Martín, Oscar de; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppälä, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor (2025)
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
American journal of human genetics. https://doi.org/10.1016/j.ajhg.2024.12.012.
Lucia-Campos, Cristina; Parenti, Ilaria; Latorre-Pellicer, Ana; Gil-Salvador, Marta; Bestetti, Ilaria; Finelli, Palma; Larizza, Lidia; Arnedo, María; Ayerza-Casas, Ariadna; Del Rincón, Julia; Trujillano, Laura; Morte, Beatriz; Pérez-Jurado, Luis A.; Lapunzina, Pablo; Leitão, Elsa; Beygo, Jasmin; Lich, Christina; Kilpert, Fabian; Kaya, Sabine; Depienne, Christel; Kaiser, Frank J.; Ramos, Feliciano J.; Puisac, Beatriz; Pié, Juan (2024)
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
Frontiers in genetics 15, S. 1472543. https://doi.org/10.3389/fgene.2024.1472543.
Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Õunap, Katrin; Riccio, Andrea; Nanclares, Guiomar Perez de; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep (2024)
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Clinical epigenetics 16 (1), S. 99. https://doi.org/10.1186/s13148-024-01713-y.
Mohren, Lars; Erdlenbruch, Friedrich; Leitão, Elsa; Kilpert, Fabian; Hönes, G. Sebastian; Kaya, Sabine; Schröder, Christopher; Thieme, Andreas; Sturm, Marc; Park, Joohyun; Schlüter, Agatha; Ruiz, Montserrat; La Morales de Prida, Moisés; Casasnovas, Carlos; Becker, Kerstin; Roggenbuck, Ulla; Pechlivanis, Sonali; Kaiser, Frank J.; Synofzik, Matthis; Wirth, Thomas; Anheim, Mathieu; Haack, Tobias B.; Lockhart, Paul J.; Jöckel, Karl-Heinz; Pujol, Aurora; Klebe, Stephan; Timmann, Dagmar; Depienne, Christel (2024)
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Nature communications 15 (1), S. 7665. https://doi.org/10.1038/s41467-024-52148-1.
Moya Quiros, Vincent; Adham, Ahmed; Convers, Philippe; Lesca, Gaetan; Mauguiere, François; Soulier, Hugo; Arzimanoglou, Alexis; Bayat, Allan; Braakman, Hilde; Camdessanche, Jean-Philippe; Casenave, Philippe; Chaton, Laurence; Chaix, Yves; Chochoi, Maxime; Depienne, Christel; Desportes, Vincent; Ridder, Jessie de; Dinkelacker, Vera; Gardella, Elena; Kluger, Gerhard J.; Jung, Julien; Lemesle Martin, Martine; Mancardi, Maria Margherita; Mueller, Markus; Poulat, Anne-Lise; Platzer, Konrad; Roubertie, Agathe; Stokman, Marijn F.; Vulto-van Silfhout, Anneke T.; Wiegand, Gert; Mazzola, Laure (2024)
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy
Ann Neurol. 97 (1), S. 34–50. https://doi.org/10.1002/ana.27063.
Nóbrega, Paulo R.; R B de Paiva, Anderson; Souza, Katiane S.; Souza, Jorge Luiz B. de; G S B Lima, Pedro Lucas; Da Silva, Delson José; Pitombeira, Milena Sales; Borges, Viviennee K.; Dias, Daniel A.; Bispo, Luciana M.; Santos, Carolina F.; Freua, Fernando; Silva, Paulo Diego S.; Alves, Isabela S.; Portella, Leonardo B.; Cunha, Paulina R.; Salomao, Rubens Paulo A.; Pedroso, José Luiz; Miyajima, Veridiana P.; Miyajima, Fábio; Cali, Elisa; Wade, Charles; Sudarsanam, Annapurna; O‘Driscoll, Mary; Hayton, Tom; Barsottini, Orlando G. P.; Klebe, Stephan; Kok, Fernando; Lucato, Leandro Tavares; Houlden, Henry; Depienne, Christel; Lynch, David S.; Braga-Neto, Pedro (2024)
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
Brain communications 6 (1), fcad273. https://doi.org/10.1093/braincomms/fcad273.
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
American journal of human genetics. https://doi.org/10.1016/j.ajhg.2024.06.008.
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A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma
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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
Hum Genet 143 (1), S. 71–84. https://doi.org/10.1007/s00439-023-02622-5.
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Further delineation of the SCAF4-associated neurodevelopmental disorder
European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-024-01760-2.
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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature genetics. https://doi.org/10.1038/s41588-024-01836-1.
Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; Moers, Arpad von; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Gläser, Dieter; Bernert, Günther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmüller, Hanns; Müller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C.; Kirschner, Janbernd; Pechmann, Astrid (2024)
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
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Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
Cureus 16 (4), e57378. https://doi.org/10.7759/cureus.57378.
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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
The Lancet regional health. Europe 47, S. 101092. https://doi.org/10.1016/j.lanepe.2024.101092.
Wenzek, Christina; Siemes, Devon; Hönes, G. Sebastian; Pastille, Eva; Härting, Nina; Kaiser, Frank; Moeller, Lars C.; Engel, Daniel R.; Westendorf, Astrid M.; Führer, Dagmar (2024)
Lack of canonical thyroid hormone receptor α signaling changes regulatory T cell phenotype in female mice
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2023
Aleknonytė-Resch, Milda; Trinh, Joanne; Leonard, Hampton; Delcambre, Sylvie; Leitão, Elsa; Lai, Dongbing; Smajić, Semra; Orr-Urtreger, Avi; Thaler, Avner; Blauwendraat, Cornelis; Sharma, Arunabh; Makarious, Mary B.; Kim, Jonggeol Jeff; Lake, Julie; Rahmati, Pegah; Freitag-Wolf, Sandra; Seibler, Philip; Foroud, Tatiana; Singleton, Andrew B.; Grünewald, Anne; Kaiser, Frank; Klein, Christine; Krawczak, Michael; Dempfle, Astrid (2023)
Genome-wide case-only analysis of gene-gene interactions with known Parkinson‘s disease risk variants reveals link between LRRK2 and SYT10
NPJ Parkinson‘s disease 9 (1), S. 102. https://doi.org/10.1038/s41531-023-00550-9.
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PDGF, NGF, and EGF as main contributors to tumorigenesis in high-risk retinoblastoma
Frontiers in oncology 13, S. 1144951. https://doi.org/10.3389/fonc.2023.1144951.
Beygo, Jasmin; Russo, Silvia; Tannorella, Pierpaola; Santen, Gijs W. E.; Dufke, Andreas; Schlaich, Elia; Eggermann, Thomas (2023)
Prenatal testing for imprinting disorders: A laboratory perspective
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An observational cohort study on pulmonary function in adult patients with 5q-spinal muscular atrophy under nusinersen therapy
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Bouchoucha, Y.; Matet, A.; Berger, A.; Carcaboso, A. M.; Gerrish, A.; Moll, A.; Jenkinson, H.; Ketteler, P.; Dorsman, J. C.; Chantada, G.; Beck-Popovic, M.; Munier, F.; Aerts, I.; Doz, F.; Golmard, L. (2023)
Retinoblastoma: From genes to patient care
European journal of medical genetics 66 (1), S. 104674. https://doi.org/10.1016/j.ejmg.2022.104674.
Burglen, Lydie; van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; Clercq, Katrien de; Douglas, Andrew G. L.; Fitzgerald, Mark P.; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M.; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M.; Thomas, Simon; Valence, Stéphanie; van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris (2023)
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
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Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions
Epilepsia 64 Suppl 1, S14-S21. https://doi.org/10.1111/epi.17610.
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Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability
Epilepsia 64 Suppl 1, S31-S38. https://doi.org/10.1111/epi.17504.
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Adjuvant therapy for children treated by enucleation at diagnosis of retinoblastoma
EJC Paediatric Oncology 1, S. 100004. https://doi.org/10.1016/j.ejcped.2023.100004.
Diquigiovanni, Chiara; Rizzardi, Nicola; Kampmeier, Antje; Liparulo, Irene; Bianco, Francesca; Nicolo, Bianca de; Cataldi-Stagetti, Erica; Cuna, Elisabetta; Severi, Giulia; Seri, Marco; Bertrand, Miriam; Haack, Tobias B.; Della Marina, Adela; Braun, Frederik; Fato, Romana; Kuechler, Alma; Bergamini, Christian; Bonora, Elena (2023)
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants
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Novel Variants of SOX4 in Patients with Intellectual Disability
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Insane in the vembrane: filtering and transforming VCF/BCF files
Bioinformatics (Oxford, England) 39 (1). https://doi.org/10.1093/bioinformatics/btac810.
Heide, Solveig; Argilli, Emanuela; Valence, Stéphanie; Boutaud, Lucile; Roux, Nathalie; Mignot, Cyril; Nava, Caroline; Keren, Boris; Giraudat, Kim; Faudet, Anne; Gerasimenko, Anna; Garel, Catherine; Blondiaux, Eleonore; Rastetter, Agnès; Grevent, David; Le, Carolyn; Mackenzie, Lisa; Richards, Linda; Attié-Bitach, Tania; Depienne, Christel; Sherr, Elliott; Héron, Delphine (2023)
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
J Med Genet. https://doi.org/10.1136/jmg-2023-109293.
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Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany
Journal of neurology 270 (10), S. 4922–4938. https://doi.org/10.1007/s00415-023-11811-1.
Hollstein, R.; Peron, A.; Wendt, K. S.; Parenti, I. (2023)
Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches
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Loss of CpG island immunity to DNA methylation induced by mutation
Epigenetics & chromatin 16 (1), S. 17. https://doi.org/10.1186/s13072-023-00488-5.
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-023-01474-x.
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Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
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HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein
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The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
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Thalidomid-Embryopathie 60 Jahre
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Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon
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Long-Term Results after Intraocular Surgery in Treated Retinoblastoma Eyes
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Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study
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Bildgebung des Retinoblastoms : Aktueller Stand der Technik und Ausblick in die Zukunft
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Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
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Detection and Validation of Circular DNA Fragments Using Nanopore Sequencing
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