Veröffentlichungen

2026

Parenti, I; Hesters, A; Gil-Salvador, M; Duffy, L; Kanber, D; Beygo, J; Kerkhof, J; Steenpaß, L; Leitão, E; Woestefeld, J; Boone, P M.; Kao, E M.; Alabdi, L; Aldhalaan, H M.; Alkuraya, F S.; Alshammari, M J.; Antonarakis, S E.; Basel, D; Cassinari, K; Polli Cellin, L de; Clause, A R.; Lima J, Alexander A de; Castro Leal, A de; Collins, S C.; Durand, B; Eckhold, J; Hashem, M O.; Jayakar, P; Khan, A O.; Kato, K; Kubica, R; Lyon, G J.; Marchi, E; McCarrier, J; Kimmig, L K.; Mizuno, S; Nicolas, G; Nishio, Y; Ogi, T; Pié, J; Prell, J; Puisac, B; Ramos, F J.; Ranza, E; Redin, C; Rush, E; Saitoh, S; Shamseldin, H E.; Starling, S; Astiazaran-Symonds, E; Taher, S; Kuechler, A; Sadikovic, B; Yalcin, B; Wendt, K S.; Kaiser, F J. (2025)
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
Nat Commun. 2026 Mar 30;17(1):3036. doi: 10.1038/s41467-026-71177-6.

Rius R, Blakes AJM, Chen Y, De Jonghe J, Lecoquierre F, Dawes R, Cogne B, Kim HC, Alvi JR, Amblard F, Ansari M, Arlt A, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Beleza-Meireles A, Bernstein JA, Beygo J, Blanc P, Bramswig NC, Braun F, Buchzik D, Calame DG, Campbell J, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Ewans LJ, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Helbig I, Horvath J, Hustinx A, Isidor B, Jacquemont ML, Jamie F, Jeanne M, Kessler R, Klinkhammer H, Korenke GC, Kotzaeridou U, Krawitz P, Laurie S, Leventer RJ, Levy RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O’Donnell-Luria A, O’Leary MC, Olivieri S, Parida A, Pehlivan D, Prentice AJ, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Taylor J, Thauvin-Robinetvin C, Thevenon J, Uebergang E, Ueberberg S, Vincent-Delorme C, Wassmer E, Westwood E, Wheeler MT, Gulec EY, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N.
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Nat Genet. 2026 Apr;58(4):761-773. doi: 10.1038/s41588-026-02554-6. Epub 2026 Apr 8.