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Article

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Circulation. Genomic and precision medicine - 1 Mar 2018

Szot Justin O, Cuny Hartmut, Blue Gillian M, Humphreys David T, Ip Eddie, Harrison Katrina, Sholler Gary F, Giannoulatou Eleni, Leo Paul, Duncan Emma L, Sparrow Duncan B, Ho Joshua W K, Graham Robert M, Pachter Nicholas, Chapman Gavin, Winlaw David S, Dunwoodie Sally L

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD)-structural abnormalities of the heart that arise during embryonic development-is the most common inborn malformation, affecting ≤1% of the population. However, currently, only a minority of cases can be explained by genetic abnormalities. The goal of this study was to identify disease-causal genetic variants in 30 families affected by CHD. METHODS: Whole-exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 29555671
DOI: 10.1161/CIRCGEN.117.001978

Genes

CNOT1
FLT4
PBX1
PTPN11
TBX5
TEAD2
TEK
TIE1
UPF2
USP34

Provenance

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

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