Article
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Nature genetics - 1 Apr 2017
Stessman Holly A F, Xiong Bo, Coe Bradley P, Wang Tianyun, Hoekzema Kendra, Fenckova Michaela, Kvarnung Malin, Gerdts Jennifer, Trinh Sandy, Cosemans Nele, Vives Laura, Lin Janice, Turner Tychele N, Santen Gijs, Ruivenkamp Claudia, Kriek Marjolein, van Haeringen Arie, Aten Emmelien, Friend Kathryn, Liebelt Jan, Barnett Christopher, Haan Eric, Shaw Marie, Gecz Jozef, Anderlid Britt-Marie, Nordgren Ann, Lindstrand Anna, Schwartz Charles, Kooy R Frank, Vandeweyer Geert, Helsmoortel Celine, Romano Corrado, Alberti Antonino, Vinci Mirella, Avola Emanuela, Giusto Stefania, Courchesne Eric, Pramparo Tiziano, Pierce Karen, Nalabolu Srinivasa, Amaral David G, Scheffer Ingrid E, Delatycki Martin B, Lockhart Paul J, Hormozdiari Fereydoun, Harich Benjamin, Castells-Nobau Anna, Xia Kun, Peeters Hilde, Nordenskjöld Magnus, Schenck Annette, Bernier Raphael A, Eichler Evan E
Abstract excerpt
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...
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