Discover Community Create You

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

Article

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.

Genes - 1 Jul 2021

Oluwafemi Omobola O, Musfee Fadi I, Mitchell Laura E, Goldmuntz Elizabeth, Xie Hongbo M, Hakonarson Hakon, Morrow Bernice E, Guo Tingwei, Taylor Deanne M, McDonald-McGinn Donna M, Emanuel Beverly S, Agopian A J

Abstract excerpt

Conotruncal defects with normally related great vessels (CTD-NRGVs) occur in both patients with and without 22q11.2 deletion syndrome (22q11.2DS), but it is unclear to what extent the genetically complex etiologies of these heart defects may overlap across these two groups, potentially involving variation within and/or outside of the 22q11.2 region. To explore this potential overlap, we conducted genome-wide...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to DiGeorge Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genome-Wide Association Study

Share to Genotype

Share to Heart Defects, Congenital

Share to Polymorphism, Single Nucleotide

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 34356046
DOI: 10.3390/genes12071030
PMCID: PMC8306129

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.PMID 34356046Read ↗

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

Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation.Semantic proximity Read ↗

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defectsSemantic proximity Read ↗

Genome-wide association study of maternal and inherited loci for conotruncal heart defects.Semantic proximity Read ↗

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.Semantic proximity Read ↗

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.Semantic proximity Read ↗

Anatomic patterns of conotruncal defects associated with deletion 22q11.Semantic proximity Read ↗

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.Semantic proximity Read ↗

Prenatal diagnosis of chromosomal aberrations in fetuses with conotruncal heart defects by genome-wide high-resolution SNP array.Semantic proximity Read ↗

The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population‐based studySemantic proximity Read ↗

22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.Semantic proximity Read ↗

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

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