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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Autor: Broeren E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Gitau V; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Byrne A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Ajuyah P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Balzotti M; Myriad Women's Health, Myriad Genetics, South San Francisco, CA, United States., Berg J; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Bluske K; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Ambry Genetics, Aliso Viejo, CA, United States., Bowen BM; Biomedical Data Science, Stanford University, Palo Alto, CA, United States., Brown MP; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Buchanan A; Maternal-Fetal Medicine, Tufts Medical Center, Boston, MA, United States., Burns B; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Burns NJ; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, United States., Chandrasekhar A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO, United States., Chawla A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Chong J; Pediatrics, University of Washington, Seattle, WA, United States.; Brotman-Baty Institute for Precision Medicine, Seattle, WA, United States., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, United States., Clause A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Neurology, Washington University in St. Louis, St. Louis, MO, United States., DiStefano M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Elnagheeb M; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Girod A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Goel H; Hunter Genetics, Waratah, NSW, Australia., Golden-Grant K; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Rady Children's Institute for Genomic Medicine, San Diego, CA, United States., Ha T; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Alliance between SA Pathology and UniSA, Centre for Cancer Biology, Adelaide, SA, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, MD, United States., Huang J; Ambry Genetics, Aliso Viejo, CA, United States., Hughes M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Jamuar S; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore., Kam S; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Kesari A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Koh AL; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Lassiter R; Ambry Genetics, Aliso Viejo, CA, United States., Leigh S; Biocuration, Genomics England Ltd, London, United Kingdom., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.; Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Lim JY; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Malhotra A; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., McCurry H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Milewski B; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Hereditary Cancer Genetic Counselor, PreventionGenetics part of Exact Sciences, Marshfield, WI, United States., Moosa S; Division of Molecular Biology and Human Genetics Stellenbosch University, Cape Town, WC, South Africa.; Medical Genetics, Tygerberg Hospital, Cape Town, WC, South Africa., Murray S; The Jackson Laboratory, Bar Harbor, ME, United States., Owens E; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Palmer E; School of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW Australia., Palus B; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Patel M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Rajkumar R; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Ratliff J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Raymond FL; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Assis BDRR; Neurogenetics, University of São Paulo, São Paulo, SP Brazil., Sajan S; Cytogenetics, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI, United States.; Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States., Schlachetzki Z; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Alzheimer's Therapeutic Research Institute (ATRI), University of Southern California, San Diego, CA, United States., Schmidt S; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Clinical Genomics Research and Development , Natera, Inc, Austin, TX, United States., Stark Z; Australian Genomics, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Strom S; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States.; Clinical Services, Fabric Genomics, Oakland, CA, United States., Taylor J; Illumina Laboratory Services, Illumina Inc., San Diego, CA, United States., Thaxton C; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Thrush D; Ambry Genetics, Aliso Viejo, CA, United States., Toro S; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States., Tshering K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Vasilevsky N; Data Collaboration Center, Critical Path Institute, Tucson, AZ, United States., Wayburn B; Ambry Genetics, Aliso Viejo, CA, United States., Webb R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States., Coffey AJ; Translational Research, Illumina Inc., Cambridge, Cambridgeshire, United Kingdom.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Nov 20. Date of Electronic Publication: 2024 Nov 20.