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Article

Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.

Circulation. Cardiovascular genetics - 1 Oct 2014

Martin Lisa J, Pilipenko Valentina, Kaufman Kenneth M, Cripe Linda, Kottyan Leah C, Keddache Mehdi, Dexheimer Phillip, Weirauch Matthew T, Benson D Woodrow

Abstract excerpt

BACKGROUND: Bicuspid aortic valve (BAV) is the most common congenital cardiovascular malformation. Although highly heritable, few causal variants have been identified. The purpose of this study was to identify genetic variants underlying BAV by whole exome sequencing a multiplex BAV kindred. METHODS AND RESULTS: Whole exome sequencing was performed on 17 individuals from a single family (BAV=3; other...

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Identifiers

PMID: 25085919
DOI: 10.1161/CIRCGENETICS.114.000526

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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