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Article

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2016

D'Alessandro Lisa C A, Al Turki Saeed, Manickaraj Ashok Kumar, Manase Dorin, Mulder Barbara J M, Bergin Lynn, Rosenberg Herschel C, Mondal Tapas, Gordon Elaine, Lougheed Jane, Smythe John, Devriendt Koen, Bhattacharya Shoumo, Watkins Hugh, Bentham Jamie, Bowdin Sarah, Hurles Matthew E, Mital Seema

Abstract excerpt

PURPOSE: The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of nonsyndromic individuals with AVSD. METHODS: Whole-exome sequencing was performed in 81 unrelated probands with AVSD to identify potentially causal variants in a comprehensive set of 112 genes with strong biological relevance to AVSD....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25996639
DOI: 10.1038/gim.2015.60
PMCID: PMC5988035

Genes

CHD7
NIPBL
MDM4
ZFPM2

Provenance

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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