The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
Joana Rita ChoraDepartment of Health Promotion and Prevention of Noncommunicable Diseases, Nacional Institute of Health Dr. Ricardo Jorge, Lisbon, Portugal; BioISI - BioSystems & Integrative Sciences Institute, Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisbon, Lisbon, PortugalMichael A. IacoccaDepartments of Biomedical Data Science and Pathology, School of Medicine, Stanford University, Stanford, CA; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto Ontario, CanadaLukáš TichýCentre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech RepublicHannah WandDepartments of Biomedical Data Science and Pathology, School of Medicine, Stanford University, Stanford, CA; Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford University, Stanford, CAC. Lisa KurtzDepartment of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NCHeather ZimmermannAmbry Genetics, Aliso Viejo, CAAnnette LeonColor Health, Inc, Burlingame, CAMaggie WilliamsBristol Genetics Laboratory, North Bristol NHS Trust, Bristol, United KingdomSteve E. HumphriesCentre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London, United KingdomAmanda J. HooperDepartment of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, University of Western Australia, Perth, Western Australia, AustraliaMark TrinderDepartment of Medicine, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, CanadaLiam R. BrunhamDepartment of Medicine, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, CanadaAlexandre C. PereiraLaboratory of Genetics and Molecular Cardiology, Institute of the Hearth (InCor), Faculty of Medicine, São Paulo University, São Paulo, BrazilCinthia Elim JannesLaboratory of Genetics and Molecular Cardiology, Institute of the Hearth (InCor), Faculty of Medicine, São Paulo University, São Paulo, BrazilMargaret ChenJessica ChonisJian WangRobarts Research Institute, Schulich School of Medicine & Dentistry, Western University, London, Ontario, CanadaSerra KimColor Health, Inc, Burlingame, CATami JohnstonAmbry Genetics, Aliso Viejo, CAPřemysl SoučekCentre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Faculty of Medicine, Masaryk University, Brno, Czech RepublicMichal KramárekCentre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Faculty of Medicine, Masaryk University, Brno, Czech RepublicS. E. A. LeighGenomics England, London, United KingdomAlain CarriéUniversity Hospitals Pitié-Salpêtrière/Charles-Foix, Molecular and Chromosomal Genetics Center, Obesity and Dyslipidemia Genetics Unit, Sorbonne University, Paris, FranceEric J.G. SijbrandsAcademic Medical Center, Erasmus University, Rotterdam, NetherlandsRobert A. HegeleRobarts Research Institute, Schulich School of Medicine & Dentistry, Western University, London, Ontario, CanadaTomáš FreibergerCentre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Faculty of Medicine, Masaryk University, Brno, Czech RepublicJoshua W. KnowlesDivision of Cardiovascular Medicine, Stanford Cardiovascular Institute, Prevention Research Center, and Diabetes Research Center, School of Medicine, Stanford University, Stanford, CA; FH Foundation, Pasadena, CAMafalda BourbonDepartment of Health Promotion and Prevention of Noncommunicable Diseases, Nacional Institute of Health Dr. Ricardo Jorge, Lisbon, Portugal; BioISI - BioSystems & Integrative Sciences Institute, Department of Chemistry and Biochemistry, Faculty of Sciences, University of Lisbon, Lisbon, Portugal. Electronic address: [email protected]
2021en
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