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Circ Genom Precis Med2025;18(2):e004966.April 1, 2025Letter

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Susan Clasper1, Gunjan Trivedi2, Kate L Thomson3, Claire L S Turner4, Smrithi Devaiah5, Catherine L Mercer6, Amnah Y Bdeir7, Jumana Y Al-Aama7,8, Khalid Dagriri9, Alex R Hobson10, Shankar N Sadagopan11, Julian Ormerod5, Eszter Szepesvary12, Justin Phan2,13,14, Diane Fatkin2,13,14, Jamie I Vandenberg2,13, Zahurul A Bhuiyan15, Chai-Ann Ng2,13
1Congenica, Biodata Innovation Centre, Wellcome Genome Campus, Hinxton, United Kingdom (S.C.).
2Molecular Cardiology Division, Victor Chang Cardiac Rsrch Inst, Darlinghurst, New South Wales, Australia (G.T., J.P., D.F., J.I.V., C.-A.N.).
3Oxford Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (K.L.T.).
4Department of Clinical Genetics, Royal Devon University Hospital (Heavitree), Exeter, United Kingdom (C.L.S.T.).
5Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, United Kingdom (S.D., J.O.).
6Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom (C.L.M.).
7Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia (A.Y.B., J.Y.A.-A.).
8Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia (J.Y.A.-A.).
9Department of Paediatric Cardiology, Prince Sultan Cardiac Centre, Riyadh, Saudi Arabia (K.D.).
10Queen Alexandra Hospital, Portsmouth, United Kingdom (A.R.H.).
11Paediatric and Adult Cardiology, Univ Hospitals Southampton, Southampton, United Kingdom (S.N.S.).
12John Radcliffe Children's Hospital, Oxford, United Kingdom (E.S.).
13School of Clinical Medicine, Faculty of Medicine & Health, UNSW Sydney, Kensington, Australia (J.P., D.F., J.I.V., C.-A.N.).
14Cardiology Department, St Vincent's Hospital, Darlinghurst, New South Wales, Australia (J.P., D.F.).
15Unité de Recherche Cardiogénétique, Service de Médecine Génétique, Ctr Hospitalier Universitaire Vaudois, Lausanne, Switzerland (Z.A.B.).
PubMed DOI

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