ArticleAmerican journal of human genetics2024
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review.Translational pediatrics · 2026Review
- Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.HGG advances · 2026Article
- Oxidative Stress-Induced DNA Damage Response Pathways in Aortic Disease: Implications for Inflammation and Vascular Degeneration.International journal of molecular sciences · 2026Review
- Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.Frontiers in medicine · 2026Article
- Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.Diagnostics (Basel, Switzerland) · 2025Article
- Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes.Cureus · 2025Review
- Genetic Variants in the Extracellular Matrix GeneInternational journal of molecular sciences · 2025Article
- Identification and Functional Characterization of a NovelChildren (Basel, Switzerland) · 2025Article
- Chromosomal Location and Identification ofDiagnostics (Basel, Switzerland) · 2025Article
- Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.Heart (British Cardiac Society) · 2025Observational
- Assessing the Performance of ChatGPT in Answering Patients' Questions Regarding Congenital Bicuspid Aortic Valve.Cureus · 2024Article
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24 authors.
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Abstract
Bicuspid aortic valve (BAV) is the most common congenital heart lesion with an estimated population prevalence of 1%. We hypothesize that specific gene variants predispose to early-onset complications of BAV (EBAV). We analyzed whole-exome sequences (WESs) to identify rare coding variants that contribute to BAV disease in 215 EBAV-affected families. Predicted damaging variants in candidate genes with moderate or strong supportive evidence to cause developmental cardiac phenotypes were present in 107 EBAV-affected families (50% of total), including genes that cause BAV (9%) or heritable thoracic aortic disease (HTAD, 19%). After appropriate filtration, we also identified 129 variants in 54 candidate genes that are associated with autosomal-dominant congenital heart phenotypes, including recurrent deleterious variation of FBN2, MYH6, channelopathy genes, and type 1 and 5 collagen genes. These findings confirm our hypothesis that unique rare genetic variants drive early-onset presentations of BAV disease.
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