Article
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2026
Webb Ryan F, McCurry Hannah, Girod Amanda, Hughes Madeline, Wilcox Emma, Patel Mayher, Broeren Eleanor C, Tshering Kezang C, DiStefano Marina, Botto Lorenzo D, Burrage Lindsay C, Cormier-Daire Valérie, Dong Juan, Ehmke Nadja, Krakow Deborah, Moosa Shahida, Mortier Geert, Nagamani Sandesh, Pena Loren, Sanchez-Lara Pedro A, Superti-Furga Andrea, Unger Sheila, Velasco Danita, Warman Matthew L, Brown Kerry, D'Cunha Burkardt Deepika, Ferreira Carlos R
Abstract excerpt
More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on...
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