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Article

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

American journal of human genetics - 6 Mar 2014

Jacquemont Sébastien, Coe Bradley P, Hersch Micha, Duyzend Michael H, Krumm Niklas, Bergmann Sven, Beckmann Jacques S, Rosenfeld Jill A, Eichler Evan E

Abstract excerpt

Increased male prevalence has been repeatedly reported in several neurodevelopmental disorders (NDs), leading to the concept of a "female protective model." We investigated the molecular basis of this sex-based difference in liability and demonstrated an excess of deleterious autosomal copy-number variants (CNVs) in females compared to males (odds ratio [OR] = 1.46, p = 8 × 10(-10)) in a cohort of 15,585 probands...

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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: 24581740
DOI: 10.1016/j.ajhg.2014.02.001
PMCID: PMC3951938

Provenance

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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