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Article

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

Circulation. Cardiovascular genetics - 1 Aug 2016

LaHaye Stephanie, Corsmeier Don, Basu Madhumita, Bowman Jessica L, Fitzgerald-Butt Sara, Zender Gloria, Bosse Kevin, McBride Kim L, White Peter, Garg Vidu

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD) is the most common type of birth defect with family- and population-based studies supporting a strong genetic cause for CHD. The goal of this study was to determine whether a whole exome sequencing (WES) approach could identify pathogenic-segregating variants in multiplex CHD families. METHODS AND RESULTS: WES was performed on 9 kindreds with familial CHD, 4 with atrial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27418595
DOI: 10.1161/CIRCGENETICS.115.001324
PMCID: PMC5412122

Genes

MYH11
TLL1
GATA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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