IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome A Trautmann, M Vivarelli, S Samuel, D Gipson, A Sinha, F Schaefer, ... Pediatric Nephrology 35, 1529-1561, 2020 | 309 | 2020 |
INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy O Boyer, F Nevo, E Plaisier, B Funalot, O Gribouval, G Benoit, EH Cong, ... New England Journal of Medicine 365 (25), 2377-2388, 2011 | 293 | 2011 |
Idiopathic nephrotic syndrome in children: clinical aspects P Niaudet, O Boyer Pediatric nephrology, 2009 | 213 | 2009 |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 194 | 2017 |
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ... The Journal of clinical investigation 127 (3), 912-928, 2017 | 193 | 2017 |
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis O Boyer, G Benoit, O Gribouval, F Nevo, MJ Tête, J Dantal, ... Journal of the American Society of Nephrology 22 (2), 239-245, 2011 | 181 | 2011 |
Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome K Brochard, O Boyer, A Blanchard, C Loirat, P Niaudet, MA Macher, ... Nephrology Dialysis Transplantation 24 (5), 1455-1464, 2009 | 173 | 2009 |
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome E Colin, EH Cong, G Mollet, A Guichet, O Gribouval, C Arrondel, O Boyer, ... The American Journal of Human Genetics 95 (6), 637-648, 2014 | 136 | 2014 |
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS EH Cong, AA Bizet, O Boyer, S Woerner, O Gribouval, E Filhol, C Arrondel, ... Journal of the American Society of Nephrology 25 (11), 2435-2443, 2014 | 128 | 2014 |
Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study F Fakhouri, M Fila, A Hummel, D Ribes, AL Sellier-Leclerc, S Ville, ... Blood, The Journal of the American Society of Hematology 137 (18), 2438-2449, 2021 | 123 | 2021 |
Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence WY Ding, A Koziell, HJ McCarthy, A Bierzynska, MK Bhagavatula, ... Journal of the American Society of Nephrology 25 (6), 1342-1348, 2014 | 120 | 2014 |
Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome G Mollet, J Ratelade, O Boyer, AO Muda, L Morisset, TA Lavin, D Kitzis, ... Journal of the American society of nephrology 20 (10), 2181-2189, 2009 | 112 | 2009 |
ADCK4-associated glomerulopathy causes adolescence-onset FSGS E Korkmaz, BS Lipska-Ziętkiewicz, O Boyer, O Gribouval, C Fourrage, ... Journal of the American Society of Nephrology 27 (1), 63-68, 2016 | 108 | 2016 |
LMX1B mutations cause hereditary FSGS without extrarenal involvement O Boyer, S Woerner, F Yang, EJ Oakeley, B Linghu, O Gribouval, MJ Tête, ... Journal of the American Society of Nephrology 24 (8), 1216-1222, 2013 | 108 | 2013 |
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome O Boyer, G Benoit, O Gribouval, F Nevo, A Pawtowski, I Bilge, Z Bircan, ... Journal of medical genetics 47 (7), 445-452, 2010 | 105 | 2010 |
NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum K Bouchireb, O Boyer, O Gribouval, F Nevo, E Huynh‐Cong, V Morinière, ... Human mutation 35 (2), 178-186, 2014 | 102 | 2014 |
Treatment and long-term outcome in primary distal renal tubular acidosis SC Lopez-Garcia, F Emma, SB Walsh, M Fila, N Hooman, M Zaniew, ... Nephrology Dialysis Transplantation 34 (6), 981-991, 2019 | 100 | 2019 |
Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study AS Sacri, T Chambaraud, B Ranchin, B Florkin, H Sée, S Decramer, ... Nephrology Dialysis Transplantation 30 (suppl_1), i104-i112, 2015 | 98 | 2015 |
Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth O Boyer, MF Gagnadoux, G Guest, N Biebuyck, M Charbit, R Salomon, ... Pediatric Nephrology 22, 380-388, 2007 | 93 | 2007 |
Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease MP Audrézet, C Corbiere, S Lebbah, V Morinière, F Broux, F Louillet, ... Journal of the American Society of Nephrology 27 (3), 722-729, 2016 | 92 | 2016 |