ArticleCirculation. Genomic and precision medicine2020
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Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 2 pooled it
6.1field-weighted citation impact, top 2% of its field
What it found
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The trial behind it
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Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Multiparametric models for predicting major arrhythmic events in Brugada syndrome: a systematic review and critical appraisal.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Pooled it
- The diagnostic role of pharmacological provocation testing in cardiac electrophysiology: a clinical consensus statement of the European Heart Rhythm Association and the European Association of Percutaneous Cardiovascular Interventions (EAPCI) of the ESC, the ESC Working Group on Cardiovascular Pharmacotherapy, the Association of European Paediatric and Congenital Cardiology (AEPC), the Paediatric & Congenital Electrophysiology Society (PACES), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS).Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Guideline
- Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome.European heart journal · 2026Article
- Brugada Syndrome: an exemplar for the genomic basis of sudden death.European journal of human genetics : EJHG · 2026Review
- Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel disease.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Observational
- Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.Journal of arrhythmia · 2026Article
- Genetics of Sudden Cardiac Death.Diseases (Basel, Switzerland) · 2025Review
- The Utility of Genome-Wide Association Studies in Inherited Arrhythmias and Cardiomyopathies.Genes · 2025Review
- Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome.Scientific reports · 2025Article
- SCN10A-short gene therapy to restore conduction and protect against malignant cardiac arrhythmias.European heart journal · 2025Article
- Voltage-gated sodium channels in excitable cells as drug targets.Nature reviews. Drug discovery · 2025Review
- MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse model.The Journal of clinical investigation · 2025Article
- SCN5A variant type-dependent risk prediction in Brugada syndrome.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Article
- Brugada syndrome risk scores: what we've learned and what's next.Frontiers in cardiovascular medicine · 2025Review
- NaV1.5 autoantibodies in Brugada syndrome: pathogenetic implications.European heart journal · 2024Article
- Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model.Human molecular genetics · 2024Article
- Identifying the Pathogenic Variants in Heart Genes in Vietnamese Sudden Unexplained Death Victims by Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2024Article
- Whole genome sequencing in paediatric channelopathy and cardiomyopathy.Frontiers in cardiovascular medicine · 2024Article
- Human Genetics of Cardiac Arrhythmias.Advances in experimental medicine and biology · 2024Review
- Clinical Management of Brugada Syndrome: Commentary From the Experts.Circulation. Arrhythmia and electrophysiology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
45 authors at 18 institutions in 9 countries.
Yanushi D WijeyeratneMolecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
Michael W TanckDepartments of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health (M.W.T.).
Yuka MizusawaEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Velislav BatchvarovMolecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
Julien BarcEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Lia CrottiCenter for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics (L.C., F.D., S.C., M.T., P.J.S.), Milan, Italy.
J Martijn BosDepartments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., D.J.T., M.J.A.).
David J TesterDepartments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., D.J.T., M.J.A.).
Alison MuirBelfast Health & Social Care Trust, United Kingdom (A.M., P.P.M.).
Christian VeltmannRhythmology and Electrophysiology, Department of Cardiology and Angiology, Hannover Medical School, Germany (C.V.).
Seiko OhnoShiga University of Medical Science (S.O., M.H.).
Stephen P PageLeeds Teaching Hospitals NHS Trust, United Kingdom (S.P.P.).
Joseph GalvinMater University and Private Hospitals, Dublin, Ireland (J.G.).
Rafik TadrosEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Martina MuggenthalerMolecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
Hariharan RajuMolecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
Isabelle DenjoyAP-HP, Hôpital Bichat, Dépt de Cardiologie et Ctr de Référence des Maladies Cardiaques Héréditaires, Univ Paris Diderot, Sorbonne Paris Cité, Paris, France INSERM U1166 (I.D.).
Jean-Jacques SchottEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Jean-Baptiste GourraudEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Doris Skoric-MilosavljevicEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Eline A NannenbergEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Richard RedonEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Michael PapadakisMolecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
Florence KyndtEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Federica DagradiEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Silvia CastellettiEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Margherita TorchioEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Thomas MeitingerHelmholtz Zentrum München, Institute of Human Genetics, Neuherberg (T.M., P.L.).
Peter LichtnerHelmholtz Zentrum München, Institute of Human Genetics, Neuherberg (T.M., P.L.).
Taisuke IshikawaNational Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).
Arthur A M WildeEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Kazuhiro TakahashiKizawa memorial hospital, Gifu, Japan (K.T.).
Sanjay SharmaMolecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
Dan M RodenVanderbilt University School of Medicine, Nashville, TN (D.M.R.).
Martin M BorggrefeDepartment of Medicine, University Medical Center Mannheim (UMM), Faculty of Medicine Mannheim, University of Heidelberg, European Center for AngioScience (ECAS) & DZHK (German Center for Cardiovascular Research) partner site Heidelberg/Mannheim, Germany (M.M.B.).
Pascal P McKeownBelfast Health & Social Care Trust, United Kingdom (A.M., P.P.M.).
Wataru ShimizuNational Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).
Minoru HorieShiga University of Medical Science (S.O., M.H.).
Naomasa MakitaNational Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).
Takeshi AibaNational Cerebral and Cardiovascular Center, Osaka, Japan (S.O., T.I., W.S., N.M., T.A.).
Michael J AckermanDepartments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., D.J.T., M.J.A.).
Peter J SchwartzEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Vincent ProbstEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Connie R BezzinaEuropean Reference Network for Rare & Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart) (Y.D.W., Y.M., V.B., J.B., L.C., R.T., M.M., H.R., J.-J.S., J.-B.G., D.S.-M., E.A.N., R.R., M.P., F.K., F.D., S.C., M.T., A.A.M.W., S.S., P.J.S., V.P., C.R.B., E.R.B.).
Elijah R BehrMolecular and Clinical Sciences Research Institute, St George's University of London, Cardiovascular Clinical Academic Group, St George's University Hospitals National Health Service (NHS) Foundation Trust, United Kingdom (Y.D.W., V.B., M.M., H.R., M.P., S.S., E.R.B.).
St George’s University Hospitals NHS Foundation Trust · GBERN GUARD-Heart · NLCenter for Human Genetics · USCentre National de la Recherche Scientifique · FRNational Cerebral and Cardiovascular Center · JPMayo Clinic · USHelmholtz Zentrum München · DEInserm · FRUniversity of Shiga Prefecture · JPAizawa Hospital · JPAmsterdam UMC Location University of Amsterdam · NLBelfast Health and Social Care Trust · GBHeidelberg University · DELeeds Teaching Hospitals NHS Trust · GBMater Private Hospital · AUMedizinische Hochschule Hannover · DEQueen's University Belfast · GBVanderbilt University · US
Funding
British Heart Foundation FS/11/71/28918British Heart Foundation PG/15/107/31908Medical Research Council
Abstract
backgroundBrugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in
methodsSubjects with a spontaneous type 1 pattern or positive/negative drug challenge from cohorts harboring
resultsIn the total population (n=312), BrS-GRS ≥4 risk alleles yielded an odds ratio of 4.15 for BrS phenotype ([95% CI, 1.45-11.85];
conclusionsCommon genetic variation is associated with variable expressivity of BrS phenotype in
Indexed as
Genetic Predisposition to DiseaseAdultAllelesBrugada SyndromeFemaleGenetic Association StudiesHaploinsufficiencyHumansLikelihood FunctionsLoss of Function MutationMaleMutationNAV1.5 Voltage-Gated Sodium ChannelPhenotypeRisk FactorsNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanBrugada syndromegenetics, humanpenetrancephenotyperisk score
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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.