Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
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Published:2017-02-13
Issue:4
Volume:49
Page:515-526
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Stessman Holly A FORCID, 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 JozefORCID, Anderlid Britt-Marie, Nordgren Ann, Lindstrand Anna, Schwartz Charles, Kooy R FrankORCID, Vandeweyer Geert, Helsmoortel Celine, Romano CorradoORCID, 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 JORCID, Hormozdiari Fereydoun, Harich Benjamin, Castells-Nobau Anna, Xia Kun, Peeters Hilde, Nordenskjöld Magnus, Schenck Annette, Bernier Raphael A, Eichler Evan E
Publisher
Springer Science and Business Media LLC
Reference123 articles.
1. Diagnostic and Statistical Manual of Mental Disorders 5th edn. (American Psychiatric Association, 2013). 2. Posthuma, D. & Polderman, T.J. What have we learned from recent twin studies about the etiology of neurodevelopmental disorders? Curr. Opin. Neurol. 26, 111–121 (2013). 3. Torres, F., Barbosa, M. & Maciel, P. Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. J. Med. Genet. 53, 73–90 (2016). 4. Matson, J.L. & Shoemaker, M. Intellectual disability and its relationship to autism spectrum disorders. Res. Dev. Disabil. 30, 1107–1114 (2009). 5. Stessman, H.A., Bernier, R. & Eichler, E.E. A genotype-first approach to defining the subtypes of a complex disease. Cell 156, 872–877 (2014).
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