Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
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DOI: 10.1001/jamapsychiatry.2016.3798
Abstract: Importance Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives To promote the identification of disease genes through confirmation of previously described genes and… read more here.
Keywords: exome sequencing; 152 consanguineous; diagnostic yield; consanguineous families ... See more keywords