ArticlemedRxiv : the preprint server for health sciences2026
Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the
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Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
60 authors.
Alex LipovDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Manon BaudicEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Pierre LindenbaumEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Isabella MengarelliDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Matthew J O'NeillDepartment of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Fernanda M BosadaDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Yanushi WijeyeratneCardiovascular and Genomics Research Institute, City St George's, University of London, London, UK.
Luis de la Higuera RomeroHealth in Code S.L., A Coruña, Spain.
Maarten KooymanDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Marion GaudinEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Graziella AquilinaDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Leander BeekmanDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Estelle BaronEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Mathilde BertrandEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Zoya KingsburyIllumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK.
Mark T RossIllumina Cambridge Ltd, Granta Park, Great Abington, Cambridge, UK.
Marre CorverDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Paola LombardiDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Ingrid KrapelsEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Paul G VoldersEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Rafik TadrosDepartment of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute, Université de Montréal, Montreal, Canada.
Fenna TuijnenburgDepartment of Clinical Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, The Netherlands.
Karel van DuijvenbodenDepartment of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
Ammar Al-ChalabiDepartment of Neurology, King's College London, London, UK.
Jan H VeldinkDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Sean J JurgensDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Aurélie TholletEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Eric CharpentierEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Camille MaianoEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Philippe MaboService de Cardiologie, CHU de Rennes, Rennes, France.
Antoine LeenhardtEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Frederic SacherEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Arjan C HouwelingDepartment of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
Hanno L TanDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Vincent M ChristoffelsDepartment of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
Michael W TanckEpidemiology and Data Science, Amsterdam Public Health, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Andrew GraceDepartment of Biochemistry, University of Cambridge, Cambridge, UK.
Koonlawee NademaneeDepartment of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Apichai KhongphatthanayothinDepartment of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Andrew M GlazerVanderbilt Center for Arrhythmia Research and Therapeutics (VanCART), Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Jean François DeleuzeCentre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.
FranceGenRef consortium
Juan Pablo OchoaHealth in Code S.L., A Coruña, Spain.
Jérôme MontnachEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Michel De WaardEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Pieter G PostemaAmsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam, The Netherlands.
Ahmad S AminEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Jean-Baptiste GourraudEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Pascale GuicheneyINSERM, Sorbonne University, UMRS 1166, Institute of Cardiometabolism and Nutrition (ICAN), Paris, France.
Dan M RodenDepartments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Jean-Jacques SchottEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Christian DinaEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Vincent ProbstEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Pier D LambiaseInstitute of Cardiovascular Science, University College London (UCL) and Barts Heart Centre, London, UK.
Elijah R BehrCardiovascular and Genomics Research Institute, City St George's, University of London, London, UK.
Arthur A M WildeDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Richard RedonEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Roddy WalshDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Julien BarcEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart.
Connie R BezzinaDepartment of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Funding
Systematically mapping variant effects for cardiovascular genesR01HL164675 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ASHLEY, EUAN A, RODEN, DAN M · 2022 to 2025
$8.1MA pipeline for identifying disease-causing variants in transmembrane proteinsR00HG010904 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, ANDREW M. · 2022 to 2024
$737kNHGRI NIH HHS R00 HG010904NHLBI NIH HHS R01 HL164675
Abstract
Brugada syndrome (BrS) is an inherited cardiac condition characterized by a hallmark ECG pattern and an increased risk of sudden cardiac death. Central to the aetiology of BrS, the
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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.