The diverse genetic landscape of neurodevelopmental disorders

Wen F. Hu, Maria H. Chahrour, Christopher A. Walsh

Research output: Contribution to journalArticlepeer-review

117 Scopus citations


Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.

Original languageEnglish (US)
Pages (from-to)195-213
Number of pages19
JournalAnnual Review of Genomics and Human Genetics
StatePublished - Aug 2014


  • autism
  • brain malformations
  • neurodevelopment
  • somatic mutations

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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