ArticleCirculation2025
A Rare Noncoding Enhancer Variant in
Abstract read
In one paragraph
Article in Circulation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
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
10 citing papers in PubMed.
- Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome.European heart journal · 2026Article
- Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at themedRxiv : the preprint server for health sciences · 2026Article
- Brugada Syndrome: an exemplar for the genomic basis of sudden death.European journal of human genetics : EJHG · 2026Review
- Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.Neural regeneration research · 2026Article
- Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.Journal of arrhythmia · 2026Article
- Genetic loci responsible for atrioventricular block in children.Frontiers in cell and developmental biology · 2026Review
- Evolution of the management of ultrarare inherited arrhythmias and cardiomyopathies.Future cardiology · 2025Article
- Dissecting cardiovascular disease-associated noncoding genetic variants using human iPSC models.Stem cell reports · 2025Review
- Family-based NGS panel testing of cardiopathies and arrhythmic syndromes.Frontiers in genetics · 2025Article
- Characterization of novel arrhythmogenic patterns arising secondary to heterogeneous expression and activation of Nav1.8.Frontiers in cardiovascular medicine · 2025Article
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.
Roddy Walsh *Departments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.ORCID 0000-0001-5092-8825
John Mauleekoonphairoj *Department of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0001-7644-0940
Isabella Mengarelli *Departments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.ORCID 0000-0002-7862-8733
Fernanda M BosadaDepartments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.ORCID 0000-0001-9817-7370
Arie O VerkerkDepartments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.ORCID 0000-0003-2140-834X
Karel van DuijvenbodenMedical Biology (A.O.V., K.v.D., V.M.C.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.ORCID 0000-0001-5691-8097
Yong PoovorawanDepartments of Pediatrics (Y.P., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0002-2337-6807
Wanwarang WongcharoenDepartment of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0002-2418-329X
Boosamas SutjapornDepartment of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0003-3117-9288
Pharawee WandeeDepartment of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Nitinan ChimparleeDepartment of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0003-2835-2828
Ronpichai ChokesuwattanaskulDepartment of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Kornkiat VongpaisarnsinForensic Medicine (K.V.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0002-3434-3496
Piyawan DangkaoCenter of Excellence in Forensic Genetics, Ratchadapiseksompotch Fund (K.V., P.D.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0009-0009-3261-4879
Cheng-I WuHeart Rhythm Center, Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taiwan (C.-I.W.).
Rafik TadrosDepartment of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Quebec, Canada (R.T.).ORCID 0000-0002-1472-0258
Ahmad S AminAmsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).ORCID 0000-0002-1600-7907
Krystien V V LieveAmsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).ORCID 0000-0003-3960-5552
Pieter G PostemaAmsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).ORCID 0000-0003-2863-9159
Maarten KooymanDepartments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.ORCID 0000-0002-9023-5617
Leander BeekmanDepartments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.
Dujdao SahasatasDepartment of Medicine, Faculty of Medicine, Khon Kaen University, Thailand (D.S., P.M.).
Montawatt AmnueypolDepartments of Medicine, Faculty of Medicine at Ramathibodi Hospital (M.A., T. Ngarmukos), Mahidol University, Bangkok, Thailand.ORCID 0000-0003-2807-1145
Rungroj KrittayaphongFaculty of Medicine at Siriraj Hospital (R.K.), Mahidol University, Bangkok, Thailand.ORCID 0000-0001-8684-2361
Somchai PrechawatDepartment of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Alisara AnannabDepartment of Cardiovascular and Intervention, Central Chest Institute of Thailand, Nonthaburi, Thailand (A.A.).ORCID 0000-0002-8495-7613
Pattarapong MakarawateDepartment of Medicine, Faculty of Medicine, Khon Kaen University, Thailand (D.S., P.M.).ORCID 0000-0002-5330-6084
Tachapong NgarmukosDepartments of Medicine, Faculty of Medicine at Ramathibodi Hospital (M.A., T. Ngarmukos), Mahidol University, Bangkok, Thailand.ORCID 0000-0002-4335-930X
Keerapa PhusantiDepartment of Medicine, Maharat Nakhon Ratchasima Hospital, Nakorn Ratchasima, Thailand (K.P.).ORCID 0009-0001-6983-5132
Gumpanart VeerakulBangkok Heart Hospital, Bangkok General Hospital, Thailand (G.V., A.K.).
Zoya KingsburyIllumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).
Taksina NewingtonIllumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).
Uma MaheswariIllumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).ORCID 0000-0001-7007-9234
Mark T RossIllumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK (Z.K., T. Newington, U.M., M.T.R.).
Andrew GraceDepartment of Biochemistry, University of Cambridge, UK (A.G.).ORCID 0000-0002-0686-215X
Pier D LambiaseCardiology, Medicine, Barts Heart Centre, London, UK (P.D.L.).ORCID 0000-0002-9055-9267
Elijah R BehrMolecular and Clinical Sciences Research Institute, St. George's, University of London, UK (E.R.B.).ORCID 0000-0002-8731-2853
Jean-Jacques SchottMember of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).ORCID 0000-0002-9578-9475
Richard RedonMember of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).ORCID 0000-0001-7751-2280
Julien BarcMember of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., J.-J.S., R.R., J.B., A.A.M.W., C.R.B.).ORCID 0000-0003-4106-5946
Vincent M ChristoffelsDepartments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.ORCID 0000-0003-4131-2636
Arthur A M WildeAmsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (R.W., I.M., F.M.B., A.O.V., A.S.A., K.V.V.L., P.G.P., M.K., L.B., V.M.C., A.A.M.W., C.R.B.).ORCID 0000-0002-0528-0852
Koonlawee Nademanee *Department of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID 0000-0001-8139-0343
Connie R Bezzina *Departments of Experimental Cardiology (R.W., I.M., F.M.B., A.O.V., M.K., L.B., C.R.B.), Amsterdam University Medical Centers, University of Amsterdam, the Netherlands.
Apichai Khongphatthanayothin *Department of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBrugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the
methodsGenome sequencing of BrS probands and population-matched controls from Thailand was performed to identify rare noncoding variants at the
resultsA rare noncoding variant in an
conclusionsThis is the first example of a functionally validated rare noncoding variant at the
Indexed as
Brugada SyndromeNAV1.5 Voltage-Gated Sodium ChannelAdultCase-Control StudiesEnhancer Elements, GeneticFemaleGenetic Predisposition to DiseaseGenetic VariationHumansInduced Pluripotent Stem CellsMaleMiddle AgedMyocytes, CardiacPrevalenceThailandNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanAsia, SoutheasternBrugada syndromegeneticsnoncoding genetic variant
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
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 Socratic graph.