Trial reportCirculation. Genomic and precision medicine2021
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
Trial report in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 5 of them syntheses that pooled it.
What it found
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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
124 citing papers in PubMed, 5 syntheses or guidelines pooled it, 221 citations in OpenAlex.
- Arrhythmogenic cardiomyopathy diagnosis and management: a systematic review of clinical practice guidelines and recommendations with insights for future research.European heart journal. Quality of care & clinical outcomes · 2025Pooled it
- ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.Nature genetics · 2025Pooled it
- One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.Trends in cardiovascular medicine · 2023Pooled it
- Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.Frontiers in pediatrics · 2021Pooled it
- Effects of SGLT2 inhibition on incident heart failure in carriers of cardiomyopathy-associated genetic variants.Nature medicine · 2026Trial
- Arrhythmogenic right ventricular cardiomyopathy.European heart journal · 2026Review
- TGF-β2 signaling promotes cardiac fibrosis in arrhythmogenic right ventricular cardiomyopathy mediated by DSC2 deficiency.Acta pharmacologica Sinica · 2026Article
- Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population.Heart rhythm · 2026Article
- Yield of Family Screening in Arrhythmogenic Right Ventricular Cardiomyopathy Without a Validated Genetic Cause.Circulation. Arrhythmia and electrophysiology · 2026Article
- Physical Activity in Arrhythmogenic Cardiomyopathy: From Trigger to Therapeutic Dilemma.Reviews in cardiovascular medicine · 2026Review
- Machine learning models enhance detection of arrhythmogenic right ventricular cardiomyopathy.Machine learning. Health · 2026Article
- Genetic counselling implementation in dilated cardiomyopathy.European heart journal · 2026Review
- Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden.Journal of translational medicine · 2026Article
- Genotype-specific digital twins for arrhythmia ablation targeting in arrhythmogenic right ventricular cardiomyopathy.Communications medicine · 2026Article
- Prevalence, Genetics, and Imaging Characteristics of Patients with Mitral Valve Prolapse and Arrhythmogenic Right Ventricular Cardiomyopathy.medRxiv : the preprint server for health sciences · 2026Article
- Review
- Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation.European journal of human genetics : EJHG · 2026Article
- Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy Registry.Open heart · 2026Observational
- Review
64 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 11 institutions in 6 countries.
Funding
Abstract
backgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended, and a pathogenic variant in an ARVC-associated gene is a major criterion for diagnosis according to the 2010 Task Force Criteria. As incorrect attribution of a gene to ARVC can contribute to misdiagnosis, we assembled an international multidisciplinary ARVC Clinical Genome Resource Gene Curation Expert Panel to reappraise all reported ARVC genes.
methodsFollowing a comprehensive literature search, six 2-member teams conducted blinded independent curation of reported ARVC genes using the semiquantitative Clinical Genome Resource framework.
resultsOf 26 reported ARVC genes, only 6 (
conclusionsUsing the Clinical Genome Resource approach to gene-disease curation, only 8 genes (
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.