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Curr Opin Genet Dev. 2013 Jun;23(3):310-5. doi: 10.1016/j.gde.2013.02.003. Epub 2013 Mar 25.

Recent developments in the genetics of autism spectrum disorders.

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Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, United States.


The last several years have marked a turning point in the genetics of autism spectrum disorder (ASD) due to rapidly advancing genomic technologies. As the pool of bona fide risk genes and regions accumulates, several key themes have emerged: these include the important role of rare and de novo mutation, the biological overlap among so-called syndromic and 'idiopathic' ASD, the elusive nature of the common variant contribution to risk, and the observation that the tremendous locus heterogeneity underlying ASD appears to converge on a relatively small number of key biological processes. Perhaps most striking has been the revelation that ASD mutations show tremendous phenotypic variability ranging from social disability to schizophrenia, intellectual disability, language impairment, epilepsy and typical development.

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