Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

Autor: Mohan, Shruthi, Mayers, Megan, Weaver, Meredith, Baudet, Heather, De Biase, Irene, Goldstein, Jennifer, Mao, Rong, McGlaughon, Jennifer, Moser, Ann, Pujol, Aurora, Suchy, Sharon, Yuzyuk, Tatiana, Braverman, Nancy E.

Publikováno v: In Molecular Genetics and Metabolism July 2023 139(3)

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2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel.

Autor: POLLIN, TONI I., MAYERS, MEGAN A., GREELEY, SIRI ATMA W., MALONEY, KRISTIN A., NAYLOR, ROCHELLE N., PAKYZ, RUTH E., PATEL, KASHYAP A., UDLER, MIRIAM, ZHANG, HAICHEN, COLCLOUGH, KEVIN, THAXTON, COURTNEY

Publikováno v: Diabetes; 2020 Supplement, Vol. 69, pN.PAG-N.PAG, 1p

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.

Autor: Hespe S; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia., Waddell A; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Asatryan B; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Owens E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Thaxton C; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Adduru ML; Predictiv Care, San Francisco, CA, USA., Anderson K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Brown EE; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Hoffman-Andrews L; Division of Cardiovascular Medicine, Department of Medicine, Center for Inherited Cardiovascular Disease, Perelman School of Medicine at the University of Pennsylvania, Perelman Center for Advanced Medicine, Philadelphia, PA, USA., Jordan E; Division of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus, OH, USA., Josephs K; National Heart and Lung Institute and MRC Laboratory of Medical Science, Imperial College London, London, UK., Mayers M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Peters S; Department of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Melbourne, Australia., Stafford F; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia., Bagnall RD; Bioinformatics and Molecular Genetics at Centenary Institute, University of Sydney, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., Bronicki L; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Callewaert B; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Chahal CAA; Center for Inherited Cardiovascular Diseases, WellSpan Health, Lancaster, Pennsylvania, USA; Mayo Clinic, Rochester, MN, USA; Barts Heart Centre, London, UK, William Harvey Research Institute, Queen Mary University of London, London, UK., James CA; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Jarinova O; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Landstrom AP; Department of Pediatrics and Cell Biology, Duke University School of Medicine, Durham, NC, USA., McNally EM; Center for Genetic Medicine, Dept of Medicine (Cardiology), Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Murray B; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA., Muiño-Mosquera L; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Division of Pediatric Cardiology, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium., Parikh V; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Reuter C; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Walsh R; Amsterdam University Medical Centre, University of Amsterdam, Heart Center, Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands., Wayburn B; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA., Ware JS; National Heart and Lung Institute and MRC Laboratory of Medical Science, Imperial College London, London, UK.; Hammersmith Hospital, Imperial College Healthcare NHS Foundation Trust, London, UK.; Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK., Ingles J; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Australia.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 31. Date of Electronic Publication: 2024 Jul 31.