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Did you mean weiller c (435 results)?
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Thauvin-Robinet C, Garde A, Favier M, Delanne J, Racine C, Rousseau T, Nambot S, Bruel AL, Moutton S, Quelin C, Colson C, Brehin AC, Guerrot AM, Rooryck C, Putoux A, Blanchet P, Odent S, Schaefer E, Boute O, Goldenberg A, Guichet A, Abel C, Morel G, Fradin M, Isidor B, Vincent M, Francannet C, Vera G, Petit F, Nizon M, Wells C, Jeanne M, Deiller C, Ziegler A, Godin M, Saugier-Veber P, Cassinari K, Blanc P, Simon E, Binquet C, Duffourd Y, Safraou H, Denomme-Pichon AS, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: deiller c. Eur J Hum Genet. 2025 May;33(5):675-682. doi: 10.1038/s41431-025-01823-y. Epub 2025 Apr 4. Eur J Hum Genet. 2025. PMID: 40186013
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.
Coexistence of schwannomatosis and glioblastoma in two families.
Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C. Deiller C, et al. Eur J Med Genet. 2019 Aug;62(8):103680. doi: 10.1016/j.ejmg.2019.103680. Epub 2019 May 22. Eur J Med Genet. 2019. PMID: 31128261
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F, Delanne J, Denommé-Pichon AS, Safraou H, Bruel AL, Vitobello A, Garde A, Nambot S, Bourgon N, Racine C, Sorlin A, Moutton S, Marle N, Rousseau T, Sagot P, Simon E, Vincent-Delorme C, Boute O, Colson C, Petit F, Legendre M, Naudion S, Rooryck C, Prouteau C, Colin E, Guichet A, Ziegler A, Bonneau D, Morel G, Fradin M, Lavillaureix A, Quelin C, Pasquier L, Odent S, Vera G, Goldenberg A, Guerrot AM, Brehin AC, Putoux A, Attia J, Abel C, Blanchet P, Wells CF, Deiller C, Nizon M, Mercier S, Vincent M, Isidor B, Amiel J, Dard R, Godin M, Gruchy N, Jeanne M, Schaeffer E, Maillard PY, Payet F, Jacquemont ML, Francannet C, Sigaudy S, Bergot M, Tisserant E, Ascencio ML, Binquet C, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Tran Mau-Them F, et al. Among authors: deiller c. Front Genet. 2023 Mar 23;14:1099995. doi: 10.3389/fgene.2023.1099995. eCollection 2023. Front Genet. 2023. PMID: 37035737 Free PMC article.
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: deiller c. Prenat Diagn. 2024 Sep;44(10):1179-1197. doi: 10.1002/pd.6623. Epub 2024 Aug 13. Prenat Diagn. 2024. PMID: 39138116