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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Della Ripa Rodrigues Assis B, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Strom SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering KC, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: gitau vn. Genet Med Open. 2025 Apr 9;3:103429. doi: 10.1016/j.gimo.2025.103429. eCollection 2025. Genet Med Open. 2025. PMID: 40496713 Free PMC article.