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Article

The contributions of rare inherited and polygenic risk to ASD in multiplex families.

Proceedings of the National Academy of Sciences of the United States of America - 1 Aug 2023

Cirnigliaro Matilde, Chang Timothy S, Arteaga Stephanie A, Pérez-Cano Laura, Ruzzo Elizabeth K, Gordon Aaron, Bicks Lucy K, Jung Jae-Yoon, Lowe Jennifer K, Wall Dennis P, Geschwind Daniel H

Abstract excerpt

Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions from both de novo and inherited variation. Few studies have been designed to address the role of rare inherited variation or its interaction with common polygenic risk in ASD. Here, we performed whole-genome sequencing of the largest cohort of multiplex families to date, consisting of 4,551 individuals in 1,004 families...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37506195
DOI: 10.1073/pnas.2215632120
PMCID: PMC10400943

Provenance

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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