Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

iPSYCH-Broad Consortium, Autism Sequencing Consortium

Research output: Contribution to journalArticle

55 Citations (Scopus)

Abstract

Large-scale sequencing of patients with autism allows identification of over 100 putative ASD-associated genes, the majority of which are neuronally expressed, and investigation of distinct genetic influences on ASD compared with other neurodevelopmental disorders.

Original languageEnglish
Pages (from-to)568-584.e23
JournalCell
Volume180
Issue number3
DOIs
Publication statusPublished - 2020 Feb 6

Keywords

  • autism spectrum disorder
  • cell type
  • cytoskeleton
  • excitatory neurons
  • excitatory-inhibitory balance
  • exome sequencing
  • genetics
  • inhibitory neurons
  • liability
  • neurodevelopment

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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