This chapter provides an overview of historical and modern approaches for understanding genetic causes of autism spectrum disorder (ASD), thought to account for ≥  10%-30% of ASD. Innovations in modern genome and exome approaches and targeted sequencing within recent decades have implicated over 100 genes and genomic regions in ASD. We showcase recent advances from a genetics-first approach to characterize unique phenotypes of genetic ASD subgroups (e.g., de novo genetic variants, ASD-related syndromes). In addition, we describe future directions of ASD genetics, including the growing consensus of polygenic risk, relevance of noncoding regions, and rare inherited variants.

Original languageEnglish
Title of host publicationThe Neuroscience of Autism
Number of pages17
ISBN (Electronic)9780128163931
ISBN (Print)9780128167366
StatePublished - Jan 1 2022


  • ASD syndromes
  • De novo genetic variants
  • Genetic etiology
  • Genetics first approach
  • Genotype-phenotype correlation


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