De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

por Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M
Publicado 2018

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

por Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Rodríguez Criado, G, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, Kalscheuer, V M
Publicado 2016