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Article

Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci.

HGG advances - 8 Oct 2026

Herrick Noah, Goovaerts Seppe, Manchel Alexandra, Lee Myoung Keun, Zhang Xinyi, Davies Amy, Carlson Jenna C, Leslie-Clarkson Elizabeth J, Lewis Sarah J, Marazita Mary L, Cotney Justin, Claes Peter, Shaffer John R, Weinberg Seth M

Abstract excerpt

Several lines of evidence suggest that normal-range facial features and nonsyndromic orofacial clefts (OFCs) exhibit a shared genetic basis. Approaches designed to leverage this relationship hold the possibility of revealing new OFC risk loci by boosting discovery power. To test this idea, we applied a pleiotropy-informed genome-wide association study (GWAS) method (conditional false discovery rate [cFDR]-GWAS)...

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Identifiers

PMID: 42482381
DOI: 10.1016/j.xhgg.2026.100655
PMCID: PMC13476557

Genes

ASPSCR1
FHOD3
MSX2
RALYL
SMARCA2

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