The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery von Scotet, Virginie, L'Hostis, Carine, Férec, Claude

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Cystic fibrosis: From gene discovery to precision medicine von Férec, Claude

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Tissue-Specific Regulation of CFTR Gene Expression von Blotas, Clara, Férec, Claude, Moisan, Stéphanie

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Cystic Fibrosis: A Journey through Time and Hope von Trouvé, Pascal, Saint Pierre, Aude, Férec, Claude

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Type of PKD1 Mutation Influences Renal Outcome in ADPKD von LE GALL, Emilie Cornec, AUDREZET, Marie-Pierre, GUILLODO, Marie-Paule, GRALL-JEZEQUEL, Anne, SALIOU, Philippe, FEREC, Claude, LE MEUR, Yannick, CHEN, Jian-Min, HOURMANT, Maryvonne, MORIN, Marie-Pascale, PERRICHOT, Régine, CHARASSE, Christophe, WHEBE, Bassem, RENAUDINEAU, Eric, JOUSSET, Philippe

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NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis von Génin, Emmanuelle, Cooper, David N, Masson, Emmanuelle, Férec, Claude, Chen, Jian-Min

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Gene conversion: mechanisms, evolution and human disease von Chen, Jian-Min, Patrinos, George P, Cooper, David N, Chuzhanova, Nadia, Férec, Claude

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In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis von Trouve, Pascal, Genin, Emmanuelle, Ferec, Claude

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Chronic pancreatitis: genetics and pathogenesis von Chen, Jian-Min, Férec, Claude

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Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation von Pacault, Mathilde, Verebi, Camille, Champion, Magali, Orhant, Lucie, Perrier, Alexandre, Girodon, Emmanuelle, Leturcq, France, Vidaud, Dominique, Férec, Claude, Bienvenu, Thierry, Daveau, Romain, Nectoux, Juliette

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Expanding ACMG variant classification guidelines into a general framework von Masson, Emmanuelle, Zou, Wen-Bin, Génin, Emmanuelle, Cooper, David N., Le Gac, Gerald, Fichou, Yann, Pu, Na, Rebours, Vinciane, Férec, Claude, Liao, Zhuan, Chen, Jian-Min

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort von Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism von Masson, Emmanuelle, Maestri, Sandrine, Bordeau, Valérie, Cooper, David N., Férec, Claude, Chen, Jian-Min

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Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation von Bernarde, Cédric, Keravec, Marlène, Mounier, Jérôme, Gouriou, Stéphanie, Rault, Gilles, Férec, Claude, Barbier, Georges, Héry-Arnaud, Geneviève

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The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease von Cornec-Le Gall, Emilie, Audrézet, Marie-Pierre, Rousseau, Annick, Hourmant, Maryvonne, Renaudineau, Eric, Charasse, Christophe, Morin, Marie-Pascale, Moal, Marie-Christine, Dantal, Jacques, Wehbe, Bassem, Perrichot, Régine, Frouget, Thierry, Vigneau, Cécile, Potier, Jérôme, Jousset, Philippe, Guillodo, Marie-Paule, Siohan, Pascale, Terki, Nazim, Sawadogo, Théophile, Legrand, Didier, Menoyo-Calonge, Victorio, Benarbia, Seddik, Besnier, Dominique, Longuet, Hélène, Férec, Claude, Le Meur, Yannick

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Evaluation of aminopyrrolidine amide to improve chloride transport in CFTR-defective cells von Huguet, Florentin, Guellec, Julie, Kerbiriou, Mathieu, Gandy, Maxime, Thomas, Johan, Férec, Claude, Benz, Nathalie, Trouvé, Pascal

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Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On von Cornec-Le Gall, Emilie, Audrézet, Marie-Pierre, Le Meur, Yannick, Chen, Jian-Min, Férec, Claude

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Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients von Audrézet, Marie-Pierre, Cornec-Le Gall, Emilie, Chen, Jian-Min, Redon, Sylvia, Quéré, Isabelle, Creff, Joelle, Bénech, Caroline, Maestri, Sandrine, Le Meur, Yann, Férec, Claude

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A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young Fren... von Masson, Emmanuelle, Chen, Jian-Min, Audrézet, Marie-Pierre, Cooper, David N, Férec, Claude

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The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis von Trouvé, Pascal, Férec, Claude, Génin, Emmanuelle

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