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

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

17 Jan 2019

Abstract excerpt

Rationale: Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease phenotype. Rare genetic variants have been identified as important contributors to the risk of congenital heart disease, but relatively small numbers of TOF cases have been studied to date. Objective: We...

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
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30582441
DOI: 10.1161/circresaha.118.313250

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotPMID 30582441Read ↗

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

Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for 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 ↗

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

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

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

Whole-Exome Sequencing Reveals a Novel Mutation of FLNA Gene in an Iranian Family with Nonsyndromic Tetralogy of Fallot.Semantic proximity Read ↗

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

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

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.Semantic proximity Read ↗

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