Mapping a shared genetic basis for neurodevelopmental disorders

Matthew Jensen, Santhosh Girirajan

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. A recent study sought to identify copy number variants across five neurodevelopmental disorders, and detected an enrichment for chromosome 9p24.3 duplication encompassing DOCK8 and KANK1 in affected individuals. Such large-scale studies will help uncover additional causative and modifier loci within common pathways, which will enable the development of therapeutic targets for the treatment of multiple disorders.

Original languageEnglish (US)
Article number109
JournalGenome Medicine
Volume9
Issue number1
DOIs
StatePublished - Dec 14 2017

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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