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Page 1
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. Leman R, et al. Among authors: ferec c. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36273432 Free PMC article.
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: ferec c. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205
How local reference panels improve imputation in French populations.
Herzig AF, Velo-Suárez L; FrEx Consortium; FranceGenRef Consortium; Dina C, Redon R, Deleuze JF, Génin E. Herzig AF, et al. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Masson E, Ewers M, Paliwal S, Kume K, Scotet V, Cooper DN, Rebours V, Buscail L, Rouault K; GREPAN (Genetic REsearch on PANcreatitis) Study Group; Abrantes A, Aguilera Munoz L, Albouys J, Alric L, Amiot X, Archambeaud I, Audiau S, Bastide L, Baudon J, Bellaiche G, Bellon S, Bertrand V, Bideau K, Billiemaz K, Billioud C, Bonnefoy S, Borderon C, Bournet B, Breton E, Brugel M, Buscail L, Cadiot G, Camus M, Carpentier-Pourquier M, Chamouard P, Chaput U, Chen JM, Cholet F, Ciocan DM, Clavel C, Coffin B, Coimet-Berger L, Cosconea S, Creveaux I, Culetto A, Daboussi O, De Mestier L, Degand T, D'engremont C, Denis B, Dermine S, Desgrippes, Drouet D'Aubigny A, Enaud R, Fabre A, Férec C, Gargot D, Gelsi E, Gentilcore E, Gincul R, Ginglinger-Favre E, Giovannini M, Gomercic C, Gondran H, Grainville T, Grandval P, Grasset D, Grimaldi S, Grimbert S, Hagege H, Heissat S, Hentic O, Herber-Mayne A, Hervouet M, Hoibian S, Jacques J, Jais B, Kaassis M, Koch S, Lacaze E, Lacroute J, Lamireau T, Laurent L, Le Guillou X, Le Rhun M, Leblanc S, Levy P, Lievre A, Lorenzo D, Maire F, Marcel K, Masson E, Mauillon J, Morgant S, Moussata D, Muller N, Nambot S, Napoleon B, Olivier A, Pagenault M, Pelleti… See abstract for full author list ➔ Masson E, et al. Among authors: ferec c. Pancreatology. 2023 Jan;23(1):48-56. doi: 10.1016/j.pan.2022.11.013. Epub 2022 Dec 5. Pancreatology. 2023. PMID: 36517351
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K. Couloigner L, et al. Among authors: ferec c. Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1. Clin Genet. 2023. PMID: 36444497 Review. No abstract available.
576 results