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

The SD-GCEP addresses a critical gap in gene curation efforts, enabling inclusion of genes for syndromic disorders in clinical testing and contributing to keeping pace with the rapid discovery of new genetic syndromes.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103429
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Pamela Ajuyah, Amanda Buchanan, Nicole Burns, Julie P. Taylor et al.
Genetics in Medicine Open
Genomics and Rare Diseases
article

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

Pamela Ajuyah, Amanda Buchanan, Nicole Burns, Julie P. Taylor, Marie Balzotti, Saumya Shekhar Jamuar, Brooke C. Palus, Stephanie DiTroia, Amanda Clause, Devon Lamb Thrush, Ai Ling Koh, Sarah Schmidt, Brendan Burns, B.M. Bowen, Marina T. DiStefano, Hannah McCurry, Jiin Ying Lim, Eleanor C Broeren, Sabrina Toro, Alicia B. Byrne, Jonathan S. Berg, Rhonda N.T. Lassiter, Ada Hamosh, Revathi Rajkumar, Stephen A. Murray, Maya Chopra, Nicole Vasilevsky, Thuong Ha, Bruno Della Ripa Rodrigues Assis, Alison J. Coffey, Katie Golden‐Grant, Gabrielle Lemire, Anne Girod, Samin A. Sajan, Sylvia Kam, Shahida Moosa, Alka Malhotra, Becky Milewski, Emma Owens, Zinayida Schlachetzki, Madeline Y. Hughes, Elizabeth E. Palmer, S. E. A. Leigh, Courtney Thaxton, Samuel P. Strom, Himanshu Goel, Zornitza Stark, Jessica X. Chong, Krista Bluske, Anjana Chandrasekhar, Marwa Elnagheeb, Kezang Tshering, Bess Wayburn, Anne O’Donnell‐Luria, Aditi Chawla, Julie Ratliff, Ryan Webb, Akanchha Kesari, Matthew P. Brown, Jennifer M. Huang, F. Lucy Raymond, Mayher Patel, Vanessa Gitau
article en

Abstract

The SD-GCEP addresses a critical gap in gene curation efforts, enabling inclusion of genes for syndromic disorders in clinical testing and contributing to keeping pace with the rapid discovery of new genetic syndromes.

Genetics in Medicine OpenVol. 3
Broad Institute (US), South Australia Pathology (AU), University of North Carolina at Chapel Hill (US), Boston Children's Hospital (US), Tufts Medical Center (US), University of Wisconsin System (US), New South Wales Department of Health (AU), Children’s Institute (US), University of Wisconsin–Madison (US), Myriad (Germany) (DE), Johns Hopkins University (US), SingHealth (SG), The University of Melbourne (AU), Palo Alto University (US), Illumina (United States) (US), Universidade de São Paulo (BR), University of Washington (US), Washington University in St. Louis (US), University of Cambridge (GB), Stellenbosch University (ZA), Children's Hospital of Eastern Ontario (CA), Johns Hopkins Medicine (US), Critical Path Institute (US), Tygerberg Hospital (ZA), Children's Hospital Colorado (US), SingHealth Duke-NUS Academic Medical Centre (SG), Hunter Genetics (AU), Exact Sciences (United States) (US), Victorian Clinical Genetics Services (AU), KK Women's and Children's Hospital (SG), Illumina (United Kingdom) (GB), Jackson Laboratory (US), ID Genomics (United States) (US), Duke-NUS Medical School (SG), Genomics Medicine (Ireland) (IE), Brotman Baty Institute (US), Centre for Cancer Biology (AU), Genomics England (GB), Murdoch Children's Research Institute (AU), Ambry Genetics (United States) (US), Melbourne Genomics Health Alliance (AU), Myriad Genetics (US), The University of Adelaide (AU), Neuroscience Research Australia (AU), Southern States University (US), University of Colorado Denver (US)
South African Medical Research Council, National Institutes of Health, Fonds de Recherche du Québec - Santé, National Medical Research Council, National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Openalex Percentile: Top 91%
Genomics and Rare Diseases
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