Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.

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Title: Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.
Authors: Hespe S; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia (S.H., F.S., J.I.).; Faculty of Medicine and Health (S.H., E.S.S., B.G., C.S., R.D.B.), The University of Sydney, New South Wales, Australia., Singer ES; Faculty of Medicine and Health (S.H., E.S.S., B.G., C.S., R.D.B.), The University of Sydney, New South Wales, Australia.; Centenary Institute (E.S.S., C.S., R.D.B.), The University of Sydney, New South Wales, Australia., Reuter C; Division of Cardiovascular Medicine, Department of Medicine, Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (C.R., V.P.)., Murray B; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (B.M., B.A., E.E.B., C.A.J.)., Jordan E; Division of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus (E.J., R.E.H.)., Chowns J; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (J.C., A.O., L.H.-A.)., Peters S; Department of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Victoria, Australia (S.P.)., Mayers M; Department of Genetics, University of North Carolina at Chapel Hill (M.M., A.W., E.O., C.T.)., Gray B; Faculty of Medicine and Health (S.H., E.S.S., B.G., C.S., R.D.B.), The University of Sydney, New South Wales, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia (B.G., C.S.)., Hershberger RE; Division of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus (E.J., R.E.H.)., Owens AT; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (J.C., A.O., L.H.-A.)., Semsarian C; Faculty of Medicine and Health (S.H., E.S.S., B.G., C.S., R.D.B.), The University of Sydney, New South Wales, Australia.; Centenary Institute (E.S.S., C.S., R.D.B.), The University of Sydney, New South Wales, Australia.; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia (B.G., C.S.)., Waddell A; Department of Genetics, University of North Carolina at Chapel Hill (M.M., A.W., E.O., C.T.)., Asatryan B; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (B.M., B.A., E.E.B., C.A.J.)., Owens E; Department of Genetics, University of North Carolina at Chapel Hill (M.M., A.W., E.O., C.T.)., Thaxton C; Department of Genetics, University of North Carolina at Chapel Hill (M.M., A.W., E.O., C.T.)., Adduru ML; Predictiv Care, San Francisco, CA (M.-L.A.)., Anderson K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle (K.A.)., Brown EE; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (B.M., B.A., E.E.B., C.A.J.)., Hoffman-Andrews L; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (J.C., A.O., L.H.-A.)., Stafford F; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia (S.H., F.S., J.I.)., Bagnall RD; Faculty of Medicine and Health (S.H., E.S.S., B.G., C.S., R.D.B.), The University of Sydney, New South Wales, Australia.; Centenary Institute (E.S.S., C.S., R.D.B.), The University of Sydney, New South Wales, Australia., Bronicki L; Department of Pathology and Laboratory Medicine (L.B.), University of Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada (L.B., O.J.)., Callewaert B; Department of Biomolecular Medicine, Ghent University, Belgium (B.C.).; Center for Medical Genetics (B.C., L.M.-M.), Ghent University Hospital, Belgium., Chahal CAA; Center for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, PA (C.A.A.C.).; Mayo Clinic, Rochester, MN (C.A.A.C.).; Barts Heart Centre and William Harvey Research Institute, Queen Mary University of London, United Kingdom (C.A.A.C.)., James CA; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (B.M., B.A., E.E.B., C.A.J.)., Jarinova O; Children's Hospital of Eastern Ontario Research Institute (O.J.), University of Ottawa, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada (L.B., O.J.)., Landstrom AP; Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC (A.P.L.)., McNally EM; Department of Medicine (Cardiology), Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (E.M.M.)., Muiño-Mosquera L; Center for Medical Genetics (B.C., L.M.-M.), Ghent University Hospital, Belgium.; Division of Pediatric Cardiology, Department of Pediatrics (L.M.-M.), Ghent University Hospital, Belgium., Parikh V; Division of Cardiovascular Medicine, Department of Medicine, Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (C.R., V.P.)., Walsh R; Heart Center and Department of Experimental Cardiology, Amsterdam University Medical Center, Amsterdam Cardiovascular Sciences, University of Amsterdam, the Netherlands (R.W.)., Wayburn B; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA (B.W.)., Ware JS; National Heart and Lung Institute and Medical Research Council (MRC) Laboratory of Medical Science, Imperial College London, United Kingdom (J.S.W.).; Royal Brompton, Harefield Hospitals, Guy's & St Thomas' National Health Service (NHS) Foundation Trust, London, United Kingdom (J.S.W.)., Parker BL; Department of Anatomy and Physiology, University of Melbourne, Victoria, Australia (B.L.P.)., Porrello ER; Murdoch Children's Research Institute and Melbourne Center for Cardiovascular Genomics and Regenerative Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia (E.R.P., D.A.E., J.W.M.)., Elliott DA; Murdoch Children's Research Institute and Melbourne Center for Cardiovascular Genomics and Regenerative Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia (E.R.P., D.A.E., J.W.M.)., McNamara JW; Murdoch Children's Research Institute and Melbourne Center for Cardiovascular Genomics and Regenerative Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia (E.R.P., D.A.E., J.W.M.)., Ingles J; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia (S.H., F.S., J.I.).; Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales Sydney, Sydney, Australia (J.I.).
Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2025 Jun; Vol. 18 (3), pp. e004976. Date of Electronic Publication: 2025 Apr 21.
Publication Type: Letter
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
Description
ISSN:2574-8300
DOI:10.1161/CIRCGEN.124.004976