Article

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2022

Cuinat Silvestre, Nizon Mathilde, Isidor Bertrand, Stegmann Alexander, van Jaarsveld Richard H, van Gassen Koen L, van der Smagt Jasper J, Volker-Touw Catharina M L, Holwerda Sjoerd J B, Terhal Paulien A, Schuhmann Sarah, Vasileiou Georgia, Khalifa Mohamed, Nugud Alaa A, Yasaei Hemad, Ousager Lilian Bomme, Brasch-Andersen Charlotte, Deb Wallid, Besnard Thomas, Simon Marleen E H, Amsterdam Karin Huijsdens-van, Verbeek Nienke E, Matalon Dena, Dykzeul Natalie, White Shana, Spiteri Elizabeth, Devriendt Koen, Boogaerts Anneleen, Willemsen Marjolein, Brunner Han G, Sinnema Margje, De Vries Bert B A, Gerkes Erica H, Pfundt Rolph, Izumi Kosuke, Krantz Ian D, Xu Zhou L, Murrell Jill R, Valenzuela Irene, Cusco Ivon, Rovira-Moreno Eulàlia, Yang Yaping, Bizaoui Varoona, Patat Olivier, Faivre Laurence, Tran-Mau-Them Frederic, Vitobello Antonio, Denommé-Pichon Anne-Sophie, Philippe Christophe, Bezieau Stéphane, Cogné Benjamin