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Article

A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk.

Nature communications - 15 Oct 2024

Berry Alexander S F, Finucane Brenda M, Myers Scott M, Walsh Lauren K, Seibert John M, Martin Christa Lese, Ledbetter David H, Oetjens Matthew T

Abstract excerpt

A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females. However, genetic and epidemiological investigations of this hypothesis have so far failed to explain the large difference in ASD prevalence between the sexes. To address this knowledge gap, we examined sex chromosome aneuploidy in a large...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39406744
DOI: 10.1038/s41467-024-53211-7
PMCID: PMC11480344

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