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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: parfait b. 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.
Effective Anti-SARS-CoV-2 Immune Response in Patients With Clonal Mast Cell Disorders.
Rossignol J, Ouedrani A, Livideanu CB, Barete S, Terriou L, Launay D, Lemal R, Greco C, Frenzel L, Meni C, Bodemere-Skandalis C, Polivka L, Collange AF, Hachichi H, Bouzourine S, Messaoud DN, Negretto M, Vendrame L, Jambou M, Gousseff M, Durupt S, Lega JC, Durand JM, Gaudy C, Damaj G, Gourin MP, Hamidou M, Bouillet L, Le Mouel E, Maria A, Zunic P, Cabrera Q, Vincent D, Lavigne C, Riviere E, Gourguechon C, Courbebaisse M, Lebeaux D, Parfait B, Friedlander G, Brignier A, Lhermitte L, Molina TJ, Bruneau J, Agopian J, Dubreuil P, Ranta D, Mania A, Arock M, Staropoli I, Tournilhac O, Lortholary O, Schwartz O, Chatenoud L, Hermine O. Rossignol J, et al. Among authors: parfait b. J Allergy Clin Immunol Pract. 2022 May;10(5):1356-1364.e2. doi: 10.1016/j.jaip.2021.12.038. Epub 2022 Jan 21. J Allergy Clin Immunol Pract. 2022. PMID: 35074600 Free PMC article.
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn AC, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj-Rabia S, Jacquemont ML, Lacombe D, Lyonnet S, Mallet S, Mazereeuw-Hautier J, Miquel J, Molinari N, Parfait B, Pernet C, Philip N, Pinson L, Pouvreau N, Vial Y, Sarda P, Sigaudy S, Verloes A, Cavé H, Geneviève D. Bessis D, et al. Among authors: parfait b. Br J Dermatol. 2019 Jan;180(1):172-180. doi: 10.1111/bjd.17077. Epub 2018 Sep 30. Br J Dermatol. 2019. PMID: 30141192
115 results