Article

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

American journal of human genetics - 4 May 2023

Bogaert Elke, Garde Aurore, Gautier Thierry, Rooney Kathleen, Duffourd Yannis, LeBlanc Pontus, van Reempts Emma, Tran Mau-Them Frederic, Wentzensen Ingrid M, Au Kit Sing, Richardson Kate, Northrup Hope, Gatinois Vincent, Geneviève David, Louie Raymond J, Lyons Michael J, Laulund Lone Walentin, Brasch-Andersen Charlotte, Maxel Juul Trine, El It Fatima, Marle Nathalie, Callier Patrick, Relator Raissa, Haghshenas Sadegheh, McConkey Haley, Kerkhof Jennifer, Cesario Claudia, Novelli Antonio, Brunetti-Pierri Nicola, Pinelli Michele, Pennamen Perrine, Naudion Sophie, Legendre Marine, Courdier Cécile, Trimouille Aurelien, Fenzy Martine Doco, Pais Lynn, Yeung Alison, Nugent Kimberly, Roeder Elizabeth R, Mitani Tadahiro, Posey Jennifer E, Calame Daniel, Yonath Hagith, Rosenfeld Jill A, Musante Luciana, Faletra Flavio, Montanari Francesca, Sartor Giovanna, Vancini Alessandra, Seri Marco, Besmond Claude, Poirier Karine, Hubert Laurence, Hemelsoet Dimitri, Munnich Arnold, Lupski James R, Philippe Christophe, Thauvin-Robinet Christel, Faivre Laurence, Sadikovic Bekim, Govin Jérôme, Dermaut Bart, Vitobello Antonio