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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
El Chehadeh S, Heide S, Quélin C, Rio M, Margot H, Geneviève D, Isidor B, Goldenberg A, Guégan C, Lesca G, Willems M, Ormières C, Caumes R, Busa T, Bonneau D, Guerrot AM, Marey I, Vera G, Marzin P, Philippe A, Garde A, Coubes C, Vincent M, Michaud V, Mignot C, Charles P, Sigaudy S, Edery P, Lacombe D, Boland A, Nowak F, Bouctot M, Humbert-Asensio ML, Simon A, Chennen K, Sabour N, Delmas C, Nicolas G, Saugier-Veber P, Lecoquierre F, Cassinari K, Keren B, Courtin T, De Sainte Agathe JM, Malan V, Barcia G, Tran Mau-Them F, Safraou H, Philippe C, Thévenon J, Chatron N, Januel L, Piton A, Haushalter V, Gérard B, Lejeune C, Faivre L, Sanlaville D, Héron D, Odent S, Nitschké P, Schluth-Bolard C, Lyonnet S, Deleuze JF, Binquet C, Dollfus H; DEFIDIAG study group. El Chehadeh S, et al. Genome Med. 2025 Oct 3;17(1):110. doi: 10.1186/s13073-025-01527-4. Genome Med. 2025. PMID: 41044778 Free PMC article.