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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

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Title: The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Authors: Broeren EC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Gitau VN; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Byrne AB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Ajuyah P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Balzotti MB; Myriad Women's Health, Myriad Genetics, South San Francisco, CA., Berg JS; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC., Bluske K; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Ambry Genetics, Aliso Viejo, CA., Bowen BM; Biomedical Data Science, Stanford University, Palo Alto, CA., Brown MP; Illumina Laboratory Services, Illumina Inc, San Diego, CA., Buchanan A; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Maternal-Fetal Medicine, Tufts Medical Center, Boston, MA., Burns BT; Illumina Laboratory Services, Illumina Inc, San Diego, CA., Burns NJ; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO., Chandrasekhar A; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO., Chawla A; Illumina Laboratory Services, Illumina Inc, San Diego, CA., Chong JX; Pediatrics, University of Washington, Seattle, WA.; Brotman-Baty Institute for Precision Medicine, Seattle, WA., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA., Clause AR; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Neurology, Washington University in St. Louis, St. Louis, MO., DiStefano MT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Elnagheeb MA; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC., Girod AN; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Goel H; Hunter Genetics, Waratah, NSW, Australia., Golden-Grant KL; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Rady Children's Institute for Genomic Medicine, San Diego, CA., 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., Huang JM; Ambry Genetics, Aliso Viejo, CA., Hughes MY; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Jamuar SS; 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., Koh AL; Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore., Lassiter RNT; Ambry Genetics, Aliso Viejo, CA., Leigh SE; Biocuration, Genomics England Ltd, London, United Kingdom., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; 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., McCurry HR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Milewski B; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Hereditary Cancer Genetic Counselor, PreventionGenetics part of Exact Sciences, Marshfield, WI., 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 SA; The Jackson Laboratory, Bar Harbor, ME., Owens EH; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC., Palmer EE; School of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, Australia., Palus BC; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC., Patel MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Rajkumar R; Illumina Laboratory Services, Illumina Inc, San Diego, CA., Ratliff JC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Raymond FL; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Della Ripa Rodrigues Assis B; Neurogenetics, University of São Paulo, São Paulo, SP, Brazil., Sajan SA; Cytogenetics, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI.; Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI., Schlachetzki Z; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Alzheimer's Therapeutic Research Institute (ATRI), University of Southern California, San Diego, CA., Schmidt SA; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Clinical Genomics Research and Development, Natera, Inc, Austin, TX., Stark Z; Australian Genomics, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Strom SP; Illumina Laboratory Services, Illumina Inc, San Diego, CA.; Clinical Services, Fabric Genomics, Oakland, CA., Taylor JP; Illumina Laboratory Services, Illumina Inc, San Diego, CA., Thaxton C; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC., Thrush DL; Ambry Genetics, Aliso Viejo, CA., Toro S; Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC., Tshering KC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Vasilevsky NA; Data Collaboration Center, Critical Path Institute, Tucson, AZ., Wayburn B; Ambry Genetics, Aliso Viejo, CA., Webb RF; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Coffey AJ; Translational Research, Illumina Inc, Cambridge, United Kingdom.
Source: Genetics in medicine open [Genet Med Open] 2025 Apr 09; Vol. 3, pp. 103429. Date of Electronic Publication: 2025 Apr 09 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
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            NameFull: Sajan SA
      – PersonEntity:
          Name:
            NameFull: Schlachetzki Z
      – PersonEntity:
          Name:
            NameFull: Schmidt SA
      – PersonEntity:
          Name:
            NameFull: Stark Z
      – PersonEntity:
          Name:
            NameFull: Strom SP
      – PersonEntity:
          Name:
            NameFull: Taylor JP
      – PersonEntity:
          Name:
            NameFull: Thaxton C
      – PersonEntity:
          Name:
            NameFull: Thrush DL
      – PersonEntity:
          Name:
            NameFull: Toro S
      – PersonEntity:
          Name:
            NameFull: Tshering KC
      – PersonEntity:
          Name:
            NameFull: Vasilevsky NA
      – PersonEntity:
          Name:
            NameFull: Wayburn B
      – PersonEntity:
          Name:
            NameFull: Webb RF
      – PersonEntity:
          Name:
            NameFull: O'Donnell-Luria A
      – PersonEntity:
          Name:
            NameFull: Coffey AJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 09
              M: 04
              Text: 2025 Apr 09
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2949-7744
          Numbering:
            – Type: volume
              Value: 3
          Titles:
            – TitleFull: Genetics in medicine open
              Type: main
ResultId 1