ReviewTrends in cardiovascular medicine2014
Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.
Review in Trends in cardiovascular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- Thoracic aortic aneurysm.Nature reviews. Disease primers · 2025Review
- Review
- Unveiling cellular and molecular aspects of ascending thoracic aortic aneurysms and dissections.Basic research in cardiology · 2024Review
- Genetics and mechanisms of thoracic aortic disease.Nature reviews. Cardiology · 2023Review
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
- Applying multi-omics techniques to the discovery of biomarkers for acute aortic dissection.Frontiers in cardiovascular medicine · 2022Review
- HumanCardiogenetics · 2021Article
- Management of Women With Congenital or Inherited Cardiovascular Disease From Pre-Conception Through Pregnancy and Postpartum: JACC Focus Seminar 2/5.Journal of the American College of Cardiology · 2021Review
- Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes.Endocrine · 2021Review
- Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.American journal of translational research · 2021Article
- [Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2020Article
- Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.Molecular genetics & genomic medicine · 2020Article
- The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.Biomolecules · 2020Review
- Human aortic aneurysm genomic dictionary: is it possible?Indian journal of thoracic and cardiovascular surgery · 2019Article
- Epigenetic influences on genetically triggered thoracic aortic aneurysm.Biophysical reviews · 2018Review
- Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.Human mutation · 2018Article
- Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.BMC medical genetics · 2016Article
- Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.American journal of medical genetics. Part A · 2016Article
- FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.The Journal of clinical investigation · 2016Article
- Simple Renal Cysts as Markers of Thoracic Aortic Disease.Journal of the American Heart Association · 2016Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Thoracic aortic aneurysms involving the aortic root and/or ascending aorta can lead to acute aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and dissections (TAAD) have a family history of the disease, referred to as familial TAAD (FTAAD) that can be inherited in an autosomal dominant manner with variable expression with respect to disease presentation, age of onset and associated features. Whole exome sequencing (WES) has been used to identify causative mutations in novel genes for TAAD. The strategy used to reduce the large number of rare variants identified using WES is to sequence distant relatives with TAAD and filter for heterozygous rare variants that are shared between the relatives, predicted to disrupt protein function and segregate with the TAAD phenotype in other family members. Putative genes are validated by identifying additional families with a causative mutation in the genes. This approach has successfully identified novel genes for FTAAD.
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