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      Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

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          Abstract

          To identify candidate genes for intellectual disability, we performed a meta-analysis on 2,637 de novo mutations, identified from the exomes of 2,104 patient-parent trios. Statistical analyses identified 10 new candidate ID genes: DLG4, PPM1D, RAC1, SMAD6, SON, SOX5, SYNCRIP, TCF20, TLK2 and TRIP12. In addition, we show that these genes are intolerant to nonsynonymous variation and that mutations in these genes are associated with specific clinical ID phenotypes.

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          Author and article information

          Journal
          Nat. Neurosci.
          Nature neuroscience
          1546-1726
          1097-6256
          Sep 2016
          : 19
          : 9
          Affiliations
          [1 ] Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
          [2 ] Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.
          [3 ] Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.
          [4 ] Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
          Article
          nn.4352
          10.1038/nn.4352
          27479843
          0232f081-7f61-468a-9258-29fb2221ad01
          History

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