The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome M Delous, L Baala, R Salomon, C Laclef, J Vierkotten, K Tory, C Golzio, ... Nature genetics 39 (7), 875-881, 2007 | 563 | 2007 |
Antibiotic prophylaxis for the prevention of recurrent urinary tract infection in children with low grade vesicoureteral reflux: results from a prospective randomized study G Roussey-Kesler, V Gadjos, N Idres, B Horen, L Ichay, MD Leclair, ... The Journal of urology 179 (2), 674-679, 2008 | 442 | 2008 |
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study S Weber, V Moriniere, T Knüppel, M Charbit, J Dusek, GM Ghiggeri, ... Journal of the American Society of Nephrology 17 (10), 2864-2870, 2006 | 422 | 2006 |
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome A Servais, V Frémeaux-Bacchi, M Lequintrec, R Salomon, J Blouin, ... Journal of medical genetics 44 (3), 193-199, 2007 | 374 | 2007 |
Mutant WD-repeat protein in triple-A syndrome A Tullio-Pelet, R Salomon, S Hadj-Rabia, C Mugnier, MH de Laet, ... Nature genetics 26 (3), 332-335, 2000 | 363 | 2000 |
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome L Baala, S Audollent, J Martinovic, C Ozilou, MC Babron, ... The American Journal of Human Genetics 81 (1), 170-179, 2007 | 325 | 2007 |
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man H Barak, SH Huh, S Chen, C Jeanpierre, J Martinovic, M Parisot, ... Developmental cell 22 (6), 1191-1207, 2012 | 323 | 2012 |
Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis D Dambournet, M Machicoane, L Chesneau, M Sachse, M Rocancourt, ... Nature cell biology 13 (8), 981-988, 2011 | 322 | 2011 |
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases L Heidet, S Decramer, A Pawtowski, V Moriniere, F Bandin, ... Clinical Journal of the American Society of Nephrology 5 (6), 1079-1090, 2010 | 311 | 2010 |
Initial presentation of childhood-onset systemic lupus erythematosus: a French multicenter study B Bader-Meunier, JB Armengaud, E Haddad, R Salomon, G Deschênes, ... The Journal of pediatrics 146 (5), 648-653, 2005 | 308 | 2005 |
Segregation at three loci explains familial and population risk in Hirschsprung disease SB Gabriel, R Salomon, A Pelet, M Angrist, J Amiel, M Fornage, ... Nature genetics 31 (1), 89-93, 2002 | 301 | 2002 |
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome L Baala, S Romano, R Khaddour, S Saunier, UM Smith, S Audollent, ... The American Journal of Human Genetics 80 (1), 186-194, 2007 | 275 | 2007 |
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin G Mollet, R Salomon, O Gribouval, F Silbermann, D Bacq, G Landthaler, ... Nature genetics 32 (2), 300-305, 2002 | 267 | 2002 |
Nephronophthisis R Salomon, S Saunier, P Niaudet Pediatric nephrology 24, 2333-2344, 2009 | 252 | 2009 |
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis C Ferec, O Raguenes, R Salomon, C Roche, JP Bernard, M Guillot, ... Journal of medical genetics 36 (3), 228-232, 1999 | 244 | 1999 |
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus S Bolk, A Pelet, RMW Hofstra, M Angrist, R Salomon, D Croaker, ... Proceedings of the national academy of sciences 97 (1), 268-273, 2000 | 242 | 2000 |
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease R Salomon, T Attié, A Pelet, C Bidaud, C Eng, J Amiel, S Sarnacki, ... Nature genetics 14 (3), 345-347, 1996 | 223 | 1996 |
High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis: Potential Epistatic Effect of: NPHP6: and: AHI1: Mutations in Patients with: NPHP1 … T Lacoste, L Burglen, V Morinie, N Boddaert, MA Macher, B Llanas, ... Journal of the American Society of Nephrology 18 (5), 1566-1575, 2007 | 197 | 2007 |
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. B Doray, R Salomon, J Amiel, A Pelet, R Touraine, M Billaud, T Attié, ... Human Molecular Genetics 7 (9), 1998 | 185 | 1998 |
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes G Mollet, F Silbermann, M Delous, R Salomon, C Antignac, S Saunier Human molecular genetics 14 (5), 645-656, 2005 | 179 | 2005 |