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

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

American journal of medical genetics. Part A - 1 May 2016

Schubert Jeffrey A, Landis Benjamin J, Shikany Amy R, Hinton Robert B, Ware Stephanie M

Abstract excerpt

Thoracic aortic aneurysm (TAA) is a genetically heterogeneous disease involving subclinical and progressive dilation of the thoracic aorta, which can lead to life-threatening complications such as dissection or rupture. Genetic testing is important for risk stratification and identification of at risk family members, and clinically available genetic testing panels have been expanding rapidly. However, when past...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm, Thoracic
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Contractile Proteins

Share to Loeys-Dietz Syndrome

Share to Marfan Syndrome

Share to Myosin-Light-Chain Kinase

Share to Smad3 Protein

Share to Transforming Growth Factor beta2

Source

Open in PubMed Open full text

Identifiers

PMID: 26854089
DOI: 10.1002/ajmg.a.37568
PMCID: PMC5125072

Genes

MFAP5
MYLK
SMAD3
TGFB2

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

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.PMID 26854089Read ↗

Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic DissectionSemantic proximity Read ↗

Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencingSemantic proximity Read ↗

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.Semantic proximity Read ↗

Differential Analysis of Pathogenic Variants in Thoracic Aortic Aneurysm and Dissection at Different Ages.Semantic proximity Read ↗

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.Semantic proximity Read ↗

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial AneurysmsSemantic proximity Read ↗

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.Semantic proximity Read ↗

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.Semantic proximity Read ↗

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.Semantic proximity Read ↗

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.Semantic proximity Read ↗

Utilization of current ACC/AHA genetic testing recommendations for thoracic aortic disease at a large adult aortic center.Semantic proximity Read ↗

Insights on Prevalence of Hereditary Aortic Thoracic Disease and Impact on Family Screening in Routine Clinical Cardiothoracic Surgery CareSemantic proximity Read ↗

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