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Article

Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.

American journal of human genetics - 5 Mar 2026

Wightman Douglas P, Maciel Bernardo A P C, Brouwer Rachel M, van den Heuvel Martijn P, Posthuma Danielle

Abstract excerpt

Rare brain disorders often present with changes in brain volume, and variation in brain volume is known to be highly heritable. Recent work studying brain volume variation has largely focused on common variants and structural variants. Rare variants often have large effect sizes and clearer connections to biological mechanisms, but the role of rare variants has not been extensively studied. We performed...

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Identifiers

PMID: 41687604
DOI: 10.1016/j.ajhg.2026.01.011
PMCID: PMC13087408

Genes

DISP1
FA2H
PTEN
SCUBE2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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