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Article

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature genetics - 1 Apr 2017

Kosmicki Jack A, Samocha Kaitlin E, Howrigan Daniel P, Sanders Stephan J, Slowikowski Kamil, Lek Monkol, Karczewski Konrad J, Cutler David J, Devlin Bernie, Roeder Kathryn, Buxbaum Joseph D, Neale Benjamin M, MacArthur Daniel G, Wall Dennis P, Robinson Elise B, Daly Mark J

Abstract excerpt

Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the Exome Aggregation Consortium's cohort of 60,706 adults, and these de novo variants do not...

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Identifiers

PMID: 28191890
DOI: 10.1038/ng.3789
PMCID: PMC5496244

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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