Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms

Maitreya Das, Santhosh Girirajan

Research output: Contribution to journalArticlepeer-review


High-throughput sequencing of large affected cohorts have helped uncover a plethora of risk genes for complex neurodevelopmental disorders. However, untangling complex disease etiology also involves understanding the functional consequences of these mutations in order to connect risk variants to resulting phenotypes. Here, we highlight the efforts of Mannucci and colleagues to define a novel molecular subtype of neurodevelopmental disorder associated with mutations in DHX30 and characterize location-specific mutational effects in cell culture and zebrafish models.

Original languageEnglish (US)
Article number99
JournalGenome Medicine
Issue number1
StatePublished - Dec 2021

All Science Journal Classification (ASJC) codes

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


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