Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.

doi:10.1176/appi.ajp.2020.19080834

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Article

Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.

The American journal of psychiatry - 1 Jan 2021

Douard Elise, Zeribi Abderrahim, Schramm Catherine, Tamer Petra, Loum Mor Absa, Nowak Sabrina, Saci Zohra, Lord Marie-Pier, Rodríguez-Herreros Borja, Jean-Louis Martineau, Moreau Clara, Loth Eva, Schumann Gunter, Pausova Zdenka, Elsabbagh Mayada, Almasy Laura, Glahn David C, Bourgeron Thomas, Labbe Aurélie, Paus Tomas, Mottron Laurent, Greenwood Celia M T, Huguet Guillaume, Jacquemont Sébastien

Abstract excerpt

OBJECTIVE: Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with autism. However, levels of autism risk conferred by most rare CNVs remain unknown. The authors recently developed statistical models to estimate the effect size on IQ of all CNVs, including undocumented ones. In this study, the authors extended this model to autism susceptibility. METHODS: The authors identified...

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Identifiers

PMID: 32911998
DOI: 10.1176/appi.ajp.2020.19080834
PMCID: PMC8931740

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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