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Article

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.

International journal of cardiology - 1 Mar 2017

Blue Gillian M, Humphreys David, Szot Justin, Major Joelene, Chapman Gavin, Bosman Alexis, Kirk Edwin P, Sholler Gary F, Harvey Richard P, Dunwoodie Sally L, Winlaw David S

Abstract excerpt

BACKGROUND: Exome sequencing is an established strategy to identify causal variants in families with two or more members affected by congenital heart disease (CHD). This unbiased approach, in which both rare and common variants are identified, makes it suitable to research complex, heterogeneous diseases such as CHD. METHODS AND RESULTS: Exome sequencing was performed on two affected members of a three generation...

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Source

Identifiers

PMID: 27989580
DOI: 10.1016/j.ijcard.2016.12.024

Genes

NOTCH1
SRPK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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