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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

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Title: Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Authors: Webb RF; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., McCurry H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Girod A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Hughes M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Wilcox E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Patel M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Broeren EC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Tshering KC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., DiStefano M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States., Botto LD; Division of Medical Genetics, University of Utah, Salt Lake City, UT 84112, United States., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, United States., Cormier-Daire V; Imagine Institute, Paris Cité University, Necker-Enfants Malades Hospital, 75015 Paris, France., Dong J; Prevention Genetics-Part of Exact Sciences, Marshfield, WI 54449, United States., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany., Krakow D; Department of Human Genetics, University of California, Los Angeles, CA 90095, United States., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University, and Medical Genetics, Tygerberg Hospital, Cape Town 7505, South Africa., Mortier G; Center for Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium., Nagamani S; Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, United States., Pena L; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States., Sanchez-Lara PA; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA 90048, United States., Superti-Furga A; Division of Genetic Medicine, University of Lausanne, 1015 Lausanne, Switzerland.; Genetica AG, 8048 Zurich, Switzerland., Unger S; Genetica AG, 8048 Zurich, Switzerland., Velasco D; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198, United States., Warman ML; Department of Orthopedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, United States., Brown K; Connective Tissue Gene Tests, HNL Lab Medicine, Allentown, PA 18106, United States., D'Cunha Burkardt D; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC 20012, United States., Ferreira CR; Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute on Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.
Corporate Authors: ClinGen Skeletal Disorders Gene Curation Expert Panel
Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2026 Jul 01; Vol. 41 (7), pp. 717-728.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Webb+RF%22">Webb RF</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22McCurry+H%22">McCurry H</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Girod+A%22">Girod A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Hughes+M%22">Hughes M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Wilcox+E%22">Wilcox E</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Patel+M%22">Patel M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Broeren+EC%22">Broeren EC</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Tshering+KC%22">Tshering KC</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22DiStefano+M%22">DiStefano M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.<br /><searchLink fieldCode="AU" term="%22Botto+LD%22">Botto LD</searchLink>; Division of Medical Genetics, University of Utah, Salt Lake City, UT 84112, United States.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; 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Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, United States.<br /><searchLink fieldCode="AU" term="%22Pena+L%22">Pena L</searchLink>; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States.<br /><searchLink fieldCode="AU" term="%22Sanchez-Lara+PA%22">Sanchez-Lara PA</searchLink>; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA 90048, United States.<br /><searchLink fieldCode="AU" term="%22Superti-Furga+A%22">Superti-Furga A</searchLink>; Division of Genetic Medicine, University of Lausanne, 1015 Lausanne, Switzerland.; Genetica AG, 8048 Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Unger+S%22">Unger S</searchLink>; Genetica AG, 8048 Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Velasco+D%22">Velasco D</searchLink>; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198, United States.<br /><searchLink fieldCode="AU" term="%22Warman+ML%22">Warman ML</searchLink>; Department of Orthopedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, United States.<br /><searchLink fieldCode="AU" term="%22Brown+K%22">Brown K</searchLink>; Connective Tissue Gene Tests, HNL Lab Medicine, Allentown, PA 18106, United States.<br /><searchLink fieldCode="AU" term="%22D'Cunha+Burkardt+D%22">D'Cunha Burkardt D</searchLink>; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, DC 20012, United States.<br /><searchLink fieldCode="AU" term="%22Ferreira+CR%22">Ferreira CR</searchLink>; Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute on Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.
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