| Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens M Chillón, T Casals, B Mercier, L Bassas, W Lissens, S Silber, MC Romey, ... New England Journal of Medicine 332 (22), 1475-1480, 1995 | 1132 | 1995 |
| Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice C Castellani, H Cuppens, M Macek Jr, JJ Cassiman, E Kerem, P Durie, ... Journal of cystic fibrosis 7 (3), 179-196, 2008 | 871 | 2008 |
| Gene conversion: mechanisms, evolution and human disease JM Chen, DN Cooper, N Chuzhanova, C Férec, GP Patrinos Nature Reviews Genetics 8 (10), 762-775, 2007 | 748 | 2007 |
| Type of PKD1 mutation influences renal outcome in ADPKD E Cornec-Le Gall, MP Audrézet, JM Chen, M Hourmant, MP Morin, ... Journal of the American Society of Nephrology 24 (6), 1006-1013, 2013 | 542 | 2013 |
| HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis C Mura, O Raguenes, C Férec Blood, The Journal of the American Society of Hematology 93 (8), 2502-2505, 1999 | 500 | 1999 |
| Recommendations for the classification of diseases as CFTR-related disorders C Bombieri, M Claustres, K De Boeck, N Derichs, J Dodge, E Girodon, ... Journal of Cystic Fibrosis 10, S86-S102, 2011 | 492 | 2011 |
| Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease B Porath, VG Gainullin, E Cornec-Le Gall, EK Dillinger, CM Heyer, ... The American Journal of Human Genetics 98 (6), 1193-1207, 2016 | 478* | 2016 |
| The origin of the major cystic fibrosis mutation (ΔF508) in European populations N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ... Nature genetics 7 (2), 169-175, 1994 | 469 | 1994 |
| The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease E Cornec-Le Gall, MP Audrézet, A Rousseau, M Hourmant, ... Journal of the American Society of Nephrology 27 (3), 942-951, 2016 | 371 | 2016 |
| The natural history of hereditary pancreatitis: a national series V Rebours, MC Boutron-Ruault, M Schnee, C Férec, C Le Maréchal, ... Gut 58 (1), 97-103, 2009 | 369 | 2009 |
| Comparison of outcomes after hospitalization for deep venous thrombosis or pulmonary embolism S Murin, PS Romano, RH White Thrombosis and haemostasis 88 (09), 407-414, 2002 | 355 | 2002 |
| Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series V Rebours, MC Boutron-Ruault, M Schnee, C Férec, F Maire, P Hammel, ... Official journal of the American College of Gastroenterology| ACG 103 (1 …, 2008 | 343 | 2008 |
| European best practice guidelines for cystic fibrosis neonatal screening C Castellani, KW Southern, K Brownlee, JD Roelse, A Duff, M Farrell, ... Journal of Cystic Fibrosis 8 (3), 153-173, 2009 | 336 | 2009 |
| Variants in CPA1 are strongly associated with early onset chronic pancreatitis H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ... Nature genetics 45 (10), 1216-1220, 2013 | 328 | 2013 |
| Genetics: the use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility SJ Silber, Z Nagy, J Liu, H Tournaye, W Lissens, C Ferec, I Liebaers, ... Human Reproduction 10 (8), 2031-2043, 1995 | 325 | 1995 |
| Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ... European Journal of Human Genetics 17 (1), 51-65, 2009 | 320 | 2009 |
| Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France M Claustres, C Guittard, D Bozon, F Chevalier, C Verlingue, C Ferec, ... Human mutation 16 (2), 143-156, 2000 | 306 | 2000 |
| Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ... The American Journal of Human Genetics 102 (5), 832-844, 2018 | 288 | 2018 |
| A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis H Witt, M Sahin-Tóth, O Landt, JM Chen, T Kähne, JPH Drenth, Z Kukor, ... Nature genetics 38 (6), 668-673, 2006 | 285 | 2006 |
| The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery V Scotet, C L’hostis, C Férec Genes 11 (6), 589, 2020 | 281 | 2020 |
