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Article

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.

Circulation. Genomic and precision medicine - 1 Apr 2022

Theis Jeanne L, Niaz Talha, Sundsbak Rhianna S, Fogarty Zachary C, Bamlet William R, Hagler Donald J, Olson Timothy M

Abstract excerpt

BACKGROUND: Whole-genome sequencing in families enables deciphering of congenital heart disease causes. A shared genetic basis for familial bicuspid aortic valve (BAV) and hypoplastic left heart syndrome (HLHS) was postulated. METHODS: Whole-genome sequencing was performed in affected members of 6 multiplex BAV families, an HLHS cohort of 197 probands and 546 relatives, and 813 controls. Data were filtered for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35133174
DOI: 10.1161/CIRCGEN.121.003523

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