Stessman, H.Xiong, B.Coe, B.Wang, T.Hoekzema, K.Fenckova, M.Kvarnung, M.Gerdts, J.Trinh, S.Cosemans, N.Vives, L.Lin, J.Turner, T.Santen, G.Ruivenkamp, C.Kriek, M.Van Haeringen, A.Aten, E.Friend, K.Liebelt, J.et al.2017-06-052017-06-052017Nature Genetics, 2017; 49(4):515-5261061-40361546-1718http://hdl.handle.net/2440/105719Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.en© 2017 Nature America, Inc., part of Springer Nature. All rights reserved.HumansAutistic DisorderDevelopmental DisabilitiesPhenotypeMutationFemaleMaleIntellectual DisabilityJournal article003006533610.1038/ng.37920003976037000152-s2.0-85012302367287476Barnett, C. [0000-0003-1717-3824]Haan, E. [0000-0002-7310-5124]Shaw, M. [0000-0002-5060-190X]Gecz, J. [0000-0002-7884-6861]