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

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing

7 Sept 2022

Abstract excerpt

Abstract Bicuspid aortic valve (BAV) is the most common congenital heart defect in human beings, with an estimated prevalence in the general population of between 0.5 and 2%. Moreover, BAV is the most common cause of aortic stenosis in the pediatric population. Patients with BAV may have no symptoms for life, and some of them may progress to aortic stenosis. Genetic factors increase the susceptibility and...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Disease and Treatment Approaches
Share to Cardiac Valve Diseases and Treatments
Share to Congenital Heart Disease Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36071494
DOI: 10.1186/s40246-022-00405-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencingPMID 36071494Read ↗

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset ComplicationsSemantic proximity Read ↗

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.Semantic proximity Read ↗

Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and DiagnosisSemantic proximity Read ↗

Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.Semantic proximity Read ↗

Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic ValveSemantic proximity Read ↗

Chromosomal Location and Identification of TBX20 as a New Gene Responsible for Familial Bicuspid Aortic ValveSemantic proximity Read ↗

The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study.Semantic proximity Read ↗

A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).Semantic proximity Read ↗

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical PhenotypeSemantic proximity Read ↗

Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.Semantic proximity Read ↗

Bicuspid Aortic Valve: Genetic and Clinical InsightsSemantic proximity Read ↗

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.Semantic proximity Read ↗

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