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Article

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.

American journal of human genetics - 3 Jul 2025

Rai Archana, Klonowski Jonathan, Yuan Bo, Coveler Karen J, Dardas Zain, Egab Iman, Xu Jiaoyang, Lupo Philip J, Agopian A J, Kostka Dennis, Lo Cecilia W, Yi S Stephen, Gelb Bruce D, Seidman Christine E, Boerwinkle Eric, Posey Jennifer E, Gibbs Richard A, Lupski James R, Morris Shaine A, Coban-Akdemir Zeynep

Abstract excerpt

Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. The genetic etiology that underlies congenital heart disease (CHD) is often unknown (less than 40%), so we used a digenic model approach for the identification of contributing variants in known laterality-defect-associated genes (n = 115) in the exome/genome sequencing (ES/GS) data from individuals with clinically...

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Identifiers

PMID: 40543504
DOI: 10.1016/j.ajhg.2025.05.014
PMCID: PMC12256918

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