SynthesisHeart (British Cardiac Society)2022
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Synthesis in Heart (British Cardiac Society), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.Physiological genomics · 2023Pooled it
- A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.BMC cardiovascular disorders · 2025Article
- Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes.Cureus · 2025Review
- Correcting mitochondrial loss mitigates NOTCH1-related aortopathy in mice.Nature cardiovascular research · 2025Article
- Aortic Valve Calcium Score: Applications in Clinical Practice and Scientific Research-A Narrative Review.Journal of clinical medicine · 2024Review
- Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.European journal of human genetics : EJHG · 2024Article
- Review
- Insights into the Inherited Basis of Valvular Heart Disease.Current cardiology reports · 2024Review
- Models for calcific aortic valve disease in vivo and in vitro.Cell regeneration (London, England) · 2024Review
- SomaticExperimental and therapeutic medicine · 2024Article
- Characterization of genomic variants associated with congenital heart disease in patients from southwestern Colombian.Heliyon · 2024Article
- Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant.Frontiers in cardiovascular medicine · 2024Article
- Discovery ofAmerican journal of translational research · 2024Article
- Discovery and functional investigation ofAmerican journal of translational research · 2024Article
- Coarctation of the Aorta: Modern Paradigms Across the Lifespan.Hypertension (Dallas, Tex. : 1979) · 2023Review
- A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines.Journal of cardiovascular development and disease · 2023Review
- Calcific aortic valve disease: mechanisms, prevention and treatment.Nature reviews. Cardiology · 2023Review
- Congenital aortic valve stenosis: from pathophysiology to molecular genetics and the need for novel therapeutics.Frontiers in cardiovascular medicine · 2023Review
- Clinical implications of the biomechanics of bicuspid aortic valve and bicuspid aortopathy.Frontiers in cardiovascular medicine · 2022Review
Corrections and comments
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Authors and funding
21 authors at 11 institutions in 1 country.
Funding
Abstract
introductionBicuspid aortic valve (BAV) affects 1% of the general population.
aimThe aim of our study was to provide an estimate of familial and sporadic BAV disease attributable to
methodsThe population of our study consisted of participants of the University of Leicester Bicuspid aoRtic vAlVe gEnetic research-8 pedigrees with multiple affected family members and 381 sporadic patients. All subjects underwent
results
conclusionsPathogenic and likely pathogenic
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.