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Article

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

Journal of the American College of Cardiology - 16 Dec 2014

Blue Gillian M, Kirk Edwin P, Giannoulatou Eleni, Dunwoodie Sally L, Ho Joshua W K, Hilton Desiree C K, White Susan M, Sholler Gary F, Harvey Richard P, Winlaw David S

Abstract excerpt

BACKGROUND: Many genes have been implicated in the development of congenital heart disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is often complicated by logistic and interpretative hurdles. OBJECTIVES: This study sought to apply next-generation sequencing technology to CHD families with multiple affected members using a purpose-designed gene panel to assess diagnostic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25500235
DOI: 10.1016/j.jacc.2014.09.048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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