| 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 | 751 | 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 | 547 | 2013 |
| 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 | 331 | 2013 |
| 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 | 287 | 2006 |
| A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease JM Chen, PD Stenson, DN Cooper, C Férec Human genetics 117, 411-427, 2005 | 272 | 2005 |
| Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics DN Cooper, JM Chen, EV Ball, K Howells, M Mort, AD Phillips, ... Human mutation 31 (6), 631-655, 2010 | 237 | 2010 |
| Hereditary pancreatitis caused by triplication of the trypsinogen locus C Le Maréchal, E Masson, JM Chen, F Morel, P Ruszniewski, P Levy, ... Nature genetics 38 (12), 1372-1374, 2006 | 234 | 2006 |
| A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis K Fjeld, FU Weiss, D Lasher, J Rosendahl, JM Chen, BB Johansson, ... Nature genetics 47 (5), 518-522, 2015 | 208 | 2015 |
| Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis E Masson, JM Chen, V Scotet, C Le Maréchal, C Férec Human genetics 123, 83-91, 2008 | 204 | 2008 |
| Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients MP Audrézet, E Cornec‐Le Gall, JM Chen, S Redon, I Quéré, J Creff, ... Human mutation 33 (8), 1239-1250, 2012 | 199 | 2012 |
| Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis JM Chen, B Mercier, MP Audrezet, C Ferec Journal of medical genetics 37 (1), 67-69, 2000 | 192 | 2000 |
| Genomic rearrangements in inherited disease and cancer JM Chen, DN Cooper, C Férec, H Kehrer-Sawatzki, GP Patrinos Seminars in cancer biology 20 (4), 222-233, 2010 | 186 | 2010 |
| Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage JM Chen, N Chuzhanova, PD Stenson, C Férec, DN Cooper Human mutation 25 (2), 207-221, 2005 | 186 | 2005 |
| A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview JM Chen, C Férec, DN Cooper Human genetics 120, 1-21, 2006 | 184 | 2006 |
| Determination of the relative contribution of three genes–the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic … MP Audrézet, JM Chen, C Le Maréchal, P Ruszniewski, M Robaszkiewicz, ... European Journal of Human Genetics 10 (2), 100-106, 2002 | 182 | 2002 |
| A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the … JM Chen, C Férec, DN Cooper Human genetics 120, 301-333, 2006 | 172 | 2006 |
| Chronic pancreatitis: genetics and pathogenesis JM Chen, C Férec Annual review of genomics and human genetics 10 (1), 63-87, 2009 | 164 | 2009 |
| Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms MP Audrézet, JM Chen, O Raguénes, N Chuzhanova, K Giteau, ... Human mutation 23 (4), 343-357, 2004 | 155 | 2004 |
| Genetics of osteoporosis: accelerating pace in gene identification and validation WF Li, SX Hou, B Yu, MM Li, C Férec, JM Chen Human genetics 127, 249-285, 2010 | 153 | 2010 |
| Evolution of trypsinogen activation peptides JM Chen, Z Kukor, C Le Maréchal, M Tóth, L Tsakiris, O Raguénès, ... Molecular biology and evolution 20 (11), 1767-1777, 2003 | 138 | 2003 |
Claude FerecMD-PhD, Pharm, Professor of Genetics, INSERM and University of Brest在 univ-brest.fr 的电子邮件经过验证
