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Article

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings of the National Academy of Sciences of the United States of America - 15 Nov 2022

Wang Tianyun, Kim Chang N, Bakken Trygve E, Gillentine Madelyn A, Henning Barbara, Mao Yafei, Gilissen Christian, Nowakowski Tomasz J, Eichler Evan E

Abstract excerpt

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery...

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Identifiers

PMID: 36350923
DOI: 10.1073/pnas.2203491119
PMCID: PMC9674258

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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