Article
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Molecular psychiatry - 1 Jan 2016
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
Abstract excerpt
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively...
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