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

Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.

Circulation. Genomic and precision medicine - 1 Aug 2021

Reuter Miriam S, Chaturvedi Rajiv R, Jobling Rebekah K, Pellecchia Giovanna, Hamdan Omar, Sung Wilson W L, Nalpathamkalam Thomas, Attaluri Pratyusha, Silversides Candice K, Wald Rachel M, Marshall Christian R, Williams Simon G, Keavney Bernard D, Thiruvahindrapuram Bhooma, Scherer Stephen W, Bassett Anne S

Abstract excerpt

BACKGROUND: Tetralogy of Fallot (TOF)-the most common cyanotic heart defect in newborns-has evidence of multiple genetic contributing factors. Identifying variants that are clinically relevant is essential to understand patient-specific disease susceptibility and outcomes and could contribute to delineating pathomechanisms. METHODS: Using a clinically driven strategy, we reanalyzed exome sequencing data from 811...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Genome-Wide Association Study

Share to Infant, Newborn

Share to Protein Interaction Maps

Share to Tetralogy of Fallot

Source

Open in PubMed Open full text

Identifiers

PMID: 34328347
DOI: 10.1161/CIRCGEN.121.003410
PMCID: PMC8373675

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.PMID 34328347Read ↗

Clinical genetic risk variants inform a functional protein interaction network for tetralogy of FallotSemantic proximity Read ↗

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotSemantic proximity Read ↗

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome SequencesSemantic proximity Read ↗

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of FallotSemantic proximity Read ↗

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.Semantic proximity Read ↗

Family-based whole-genome sequencing identifies compound heterozygous protein-coding and noncoding mutations in tetralogy of Fallot.Semantic proximity Read ↗

Detection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis.Semantic proximity Read ↗

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.Semantic proximity Read ↗

Deleterious genetic variants in <i>NOTCH1</i> are a major contributor to the incidence of non-syndromic Tetralogy of FallotSemantic proximity Read ↗

Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.Semantic proximity Read ↗

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.Semantic proximity Read ↗

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.Semantic proximity Read ↗

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