期刊
NATURE GENETICS
卷 49, 期 4, 页码 515-+出版社
NATURE PORTFOLIO
DOI: 10.1038/ng.3792
关键词
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资金
- Simons Foundation Autism Research Initiative [SFARI 303241]
- NIH [R01MH101221]
- Netherlands Organization for Scientific Research [917-96-346, 912-12-109]
- Horizon 2020 Marie SklodowskaCurie European Training Network (MiND) [643051]
- NHGRI Interdisciplinary Training in Genome Science grant [T32HG00035]
- Australian NHMRC [1091593, 1041920]
- Channel 7 Children's Research Foundation
- National Basic Research Program of China [2012CB517900]
- National Natural Science Foundation of China [81330027, 81525007, 31400919]
- China Scholarship Council [201406370028]
- Fundamental Research Funds for the Central Universities [2012zzts110]
- National Health and Medical Research Council of Australia [556759, 1044175, 1006110]
- Jack Brockhoff Foundation
- Victorian State Government Operational Infrastructure Support
- Australian Government NHMRC IRIISS
- Swedish Brain Foundation
- Swedish Research Council
- Stockholm County Council
- University of California, San Diego Clinical and Translational Research Institute [KL2TR00099, 1KL2TR001444]
- Research FundFlanders (FWO)
- National Institute of Mental Health [1U24MH081810]
- Senior Clinical Investigator of FWO
- Howard Hughes Medical Institute
- National Health and Medical Research Council of Australia [1091593] Funding Source: NHMRC
Gene-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.
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