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Genetics of Autism Spectrum Disorder 

Genetics of Autism Spectrum Disorder
Genetics of Autism Spectrum Disorder

Yamini J. Howe

, Harrison Brand

, and Michael E. Talkowski

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date: 24 May 2022

Within the past decade, tremendous progress has been made in determining a portion of the genetic etiology of autism spectrum disorder (ASD). Technological advances have enabled identification of a greater proportion of the mutational spectrum that can contribute to ASD (e.g., single base changes and structural rearrangements). There is compelling evidence that the genetic basis of ASD is highly heterogeneous with at least hundreds of loci conferring varying degrees of risk. Genes implicated in ASD also appear to play a role in the development of related neurodevelopmental and psychiatric disorders. This chapter reviews several of the most significant advances in our understanding of the genetic basis for this common, complex neurodevelopmental disorder.

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