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Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population.

Psychiatry and clinical neurosciences - 1 Aug 2015

Inoue Emiko, Watanabe Yuichiro, Egawa Jun, Sugimoto Atsunori, Nunokawa Ayako, Shibuya Masako, Igeta Hirofumi, Someya Toshiyuki

Abstract excerpt

AIMS: Rare heterozygous truncating variations in multiplex families with autism spectrum disorder (ASD) are suggested to play a major role in the genetic etiology of ASD. To further investigate the role of rare heterozygous truncating variations, we performed whole-exome sequencing (WES) in a mul...

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PMID: 25601189
DOI: 10.1111/pcn.12274

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RPS24

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25601189-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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