Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

doi:10.1161/CIRCRESAHA.115.304458

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Circulation research - 24 Oct 2014

Glessner Joseph T, Bick Alexander G, Ito Kaoru, Homsy Jason, Rodriguez-Murillo Laura, Fromer Menachem, Mazaika Erica, Vardarajan Badri, Italia Michael, Leipzig Jeremy, DePalma Steven R, Golhar Ryan, Sanders Stephan J, Yamrom Boris, Ronemus Michael, Iossifov Ivan, Willsey A Jeremy, State Matthew W, Kaltman Jonathan R, White Peter S, Shen Yufeng, Warburton Dorothy, Brueckner Martina, Seidman Christine, Goldmuntz Elizabeth, Gelb Bruce D, Lifton Richard, Seidman Jonathan, Hakonarson Hakon, Chung Wendy K

Abstract excerpt

RATIONALE: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. OBJECTIVE: To determine the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic CHD. METHODS AND RESULTS: We studied 538 CHD trios using genome-wide dense single nucleotide polymorphism arrays and whole exome sequencing. Results were experimentally validated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to DNA Copy Number Variations

Share to Exome

Share to Gene Frequency

Share to Gene Regulatory Networks

Share to Heart Defects, Congenital

Share to Molecular Sequence Data

Source

Open in PubMed Open full text

Identifiers

PMID: 25205790
DOI: 10.1161/CIRCRESAHA.115.304458
PMCID: PMC4209190

Genes

CTBP2
CYFIP1
DUSP1
ETS1
GATA4
JUN
JUP
MED15
MED9
NIPA1
NIPA2
PTPRE
ZEB2

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.PMID 25205790Read ↗

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family TriosSemantic proximity Read ↗

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseSemantic proximity Read ↗

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.Semantic proximity Read ↗

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.Semantic proximity Read ↗

Copy-number variation in congenital heart disease.Semantic proximity Read ↗

The importance of copy number variation in congenital heart diseaseSemantic proximity Read ↗

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.Semantic proximity Read ↗

Rare copy number variants in patients with congenital conotruncal heart defects.Semantic proximity Read ↗

Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencingSemantic proximity Read ↗

Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practiceSemantic proximity Read ↗

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome studySemantic proximity Read ↗

Analysis of Copy Number and Sequence Variants Linked to Cardiac Development in Children with Syndromic Congenital Heart DefectsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.