Resequencing at scale in neurodevelopmental disorders

David R FitzPatrick (Invited Reviewer)

Research output: Contribution to journalReview articlepeer-review


An international collaboration has assembled DNA samples and detailed phenotypic information from >13,000 individuals with a clinical diagnosis of either autism spectrum disorder (ASD) or intellectual disability/developmental delay (ID/DD). The application of molecular inversion probe technologies to sequence 208 candidate genes at scale in this impressive resource has identified a large set of plausibly causative mutations for these disorders.

Original languageEnglish
Pages (from-to)488-489
Number of pages2
JournalNature Genetics
Issue number4
Publication statusPublished - 30 Mar 2017


  • Journal Article


Dive into the research topics of 'Resequencing at scale in neurodevelopmental disorders'. Together they form a unique fingerprint.

Cite this