ArticleCirculation. Genomic and precision medicine2024
Multisite Validation of a Functional Assay to Adjudicate
Abstract readMulticenter StudyValidation Study
In one paragraph
Article in Circulation. Genomic and precision medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
9 citing papers in PubMed.
- 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
- Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.Nature reviews. Cardiology · 2026Review
- High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.Circulation. Genomic and precision medicine · 2026Review
- A Historical Outline of Fluorescence Spectroscopy in Ion Channel Research.Advances in experimental medicine and biology · 2026Review
- MaveMD: A functional data resource for genomic medicine.medRxiv : the preprint server for health sciences · 2025Article
- A Novel Bradycardia-Associated Variant inBiomedicines · 2025Article
- Electrophysiological classification ofFrontiers in pharmacology · 2025Article
- Worldwide Sodium Channel Conference, January 31st-February 2nd, 2024, Grindelwald, Switzerland.Bioelectricity · 2024Article
Corrections and comments
- Update of
Authors and funding
20 authors.
Joanne G Ma *Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (J.G.M., J.I.V., C.-A.N.).ORCID 0009-0001-1616-5681
Matthew J O'Neill *Vanderbilt University School of Medicine, Nashville, TN (M.J.O., A.M.).ORCID 0000-0003-2014-7950
Ebony RichardsonClinical Genomics Laboratory, Center for Population Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia (E.R., J.I.).ORCID 0000-0003-4260-7356
Kate L ThomsonOxford Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (K.L.T.).ORCID 0000-0003-2807-3431
Jodie InglesClinical Genomics Laboratory, Center for Population Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia (E.R., J.I.).ORCID 0000-0002-4846-7676
Ayesha MuhammadVanderbilt University School of Medicine, Nashville, TN (M.J.O., A.M.).ORCID 0000-0003-0870-2923
Joseph F SolusVanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.).
Giovanni DavogusttoVanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.).ORCID 0000-0003-2771-6466
Katherine C AndersonORCID 0000-0002-1380-8493
M Benjamin ShoemakerVanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.).ORCID 0000-0001-6824-7155
Andrew B StergachisDepartment of Medicine, University of Washington School of Medicine, Seattle, WA (A.B.S.).ORCID 0000-0002-1299-3674
Brendan J FloydStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.).ORCID 0000-0003-3185-0174
Kyla DunnStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.).ORCID 0000-0001-8592-367X
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.).ORCID 0000-0002-5138-5559
Henry ChubbStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (B.J.F., K.D., V.N.P., H.C.).ORCID 0000-0002-2859-3536
Mark J PerrinDepartment of Genomic Medicine, Royal Melbourne Hospital, Victoria, Australia (M.J.P.).ORCID 0000-0001-9813-4338
Dan M RodenVanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.).
Jamie I VandenbergMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (J.G.M., J.I.V., C.-A.N.).ORCID 0000-0002-3859-3716
Chai-Ann NgMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia (J.G.M., J.I.V., C.-A.N.).ORCID 0000-0002-3120-5450
Andrew M GlazerVanderbilt Center for Arrhythmia Research and Therapeutics (Van-CART), Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (J.F.S., G.D., M.B.S., D.M.R., A.M.G.).
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MATTHEW J TYSKA · 1995 to 2026
$172.8MTranslational Analysis CoreP30DK058404 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RICHARD M. PEEK · 2002 to 2026
$29.9MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007347 · NIGMS · VANDERBILT UNIVERSITY · PI WILLIAMS, CHRISTOPHER S. · 1985 to 2023
$26.3MSystematically mapping variant effects for cardiovascular genesR01HL164675 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ASHLEY, EUAN A, RODEN, DAN M · 2022 to 2025
$8.1MAdvancing the implementation of variant-level functional data into clinical databases and clinical practiceR01HG013025 · NHGRI · UNIVERSITY OF WASHINGTON · PI Lea Starita, Andrew Ben Stergachis · 2023 to 2026
$3.1MFunctional Genomics of Cardiac Sodium Channel VariantsR01HL149826 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2020 to 2023
$2.9MHigh-throughput discovery of disease-associated ion channel variantsR35GM150465 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Andrew M. Glazer · 2023 to 2026
$1.8MA pipeline for identifying disease-causing variants in transmembrane proteinsR00HG010904 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, ANDREW M. · 2022 to 2024
$737kNanion SynchroPatch 384 for Automated, High-throughput ElectrophysiologyS10OD025281 · OD · VANDERBILT UNIVERSITY · PI WEAVER, C DAVID · 2018 to 2018
$571kAberrant Splicing in the Cardiac ArrhythmiasF30HL163923 · NHLBI · VANDERBILT UNIVERSITY · PI O'NEILL, MATTHEW · 2022 to 2023
$61kNCI NIH HHS P30 CA068485NHGRI NIH HHS R00 HG010904NHGRI NIH HHS R01 HG013025NHLBI NIH HHS F30 HL163923NHLBI NIH HHS R01 HL149826NHLBI NIH HHS R01 HL164675NIDDK NIH HHS P30 DK058404NIGMS NIH HHS R35 GM150465NIGMS NIH HHS T32 GM007347NIH HHS S10 OD025281
Abstract
backgroundBrugada syndrome is an inheritable arrhythmia condition that is associated with rare, loss-of-function variants in
methodsAn in vitro
resultsVariant channel parameters generated independently at the 2 research sites showed strong correlations, including peak
conclusionsThis validated high-throughput assay provides clinical-grade functional evidence to aid the classification of current and future
Indexed as
Brugada SyndromeNAV1.5 Voltage-Gated Sodium ChannelAdultFemaleHumansMaleMiddle AgedMutation, MissensePatch-Clamp TechniquesNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanarrhythmias, cardiacBrugada syndromegenetic testingpatch-clamp techniquesvoltage-gated sodium channels
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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.