Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 E Ars, E Serra, J García, H Kruyer, A Gaona, C Lázaro, X Estivill Human molecular genetics 9 (2), 237-247, 2000 | 500 | 2000 |
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations E Serra, T Rosenbaum, U Winner, R Aledo, E Ars, X Estivill, HG Lenard, ... Human molecular genetics 9 (20), 3055-3064, 2000 | 311 | 2000 |
Confirmation of a double-hit model for the NF1Gene in benign neurofibromas E Serra, S Puig, D Otero, A Gaona, H Kruyer, E Ars, X Estivill, C Lázaro The American Journal of Human Genetics 61 (3), 512-519, 1997 | 285 | 1997 |
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome S Santín, G Bullich, B Tazón-Vega, R García-Maset, I Giménez, I Silva, ... Clinical Journal of the American Society of Nephrology 6 (5), 1139-1148, 2011 | 284 | 2011 |
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lazaro Journal of medical genetics 40 (6), e82-e82, 2003 | 231 | 2003 |
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 |
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD M Vujic, CM Heyer, E Ars, K Hopp, A Markoff, C Örndal, B Rudenhed, ... Journal of the American Society of Nephrology 21 (7), 1097-1102, 2010 | 184 | 2010 |
Nephrin mutations cause childhood-and adult-onset focal segmental glomerulosclerosis S Santín, R García-Maset, P Ruíz, I Giménez, I Zamora, A Pena, A Madrid, ... Kidney international 76 (12), 1268-1276, 2009 | 176 | 2009 |
Expert consensus guidelines for the genetic diagnosis of Alport syndrome J Savige, F Ariani, F Mari, M Bruttini, A Renieri, O Gross, C Deltas, ... Pediatric Nephrology 34, 1175-1189, 2019 | 157 | 2019 |
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases G Bullich, A Domingo-Gallego, I Vargas, P Ruiz, L Lorente-Grandoso, ... Kidney international 94 (2), 363-371, 2018 | 152 | 2018 |
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis J Xie, L Liu, N Mladkova, Y Li, H Ren, W Wang, Z Cui, L Lin, X Hu, X Yu, ... Nature communications 11 (1), 1600, 2020 | 131 | 2020 |
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients C Lázaro, A Gaona, P Ainsworth, R Tenconi, D Vidaud, H Kruyer, E Ars, ... Human genetics 98, 696-699, 1996 | 131 | 1996 |
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis S Santín, E Ars, S Rossetti, E Salido, I Silva, R García-Maset, I Giménez, ... Nephrology Dialysis Transplantation 24 (10), 3089-3096, 2009 | 129 | 2009 |
Utility of fluorescence in situ hybridization as a non-invasive technique in the diagnosis of upper urinary tract urothelial carcinoma M Marin-Aguilera, L Mengual, MJ Ribal, M Musquera, E Ars, ... European urology 51 (2), 409-415, 2007 | 117 | 2007 |
Clinical value of NPHS2 analysis in early-and adult-onset steroid-resistant nephrotic syndrome S Santín, B Tazón-Vega, I Silva, MA Cobo, I Giménez, P Ruíz, ... Clinical Journal of the American Society of Nephrology 6 (2), 344-354, 2011 | 110 | 2011 |
High resolution X chromosome-specific array-CGH detects new CNVs in infertile males C Krausz, C Giachini, D Lo Giacco, F Daguin, C Chianese, E Ars, ... Public Library of Science 7 (10), e44887, 2012 | 107 | 2012 |
Spanish guidelines for the management of autosomal dominant polycystic kidney disease E Ars, C Bernis, G Fraga, V Martínez, J Martins, A Ortiz, ... Nephrology Dialysis Transplantation 29 (suppl_4), iv95-iv105, 2014 | 106 | 2014 |
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men C Krausz, A Riera-Escamilla, D Moreno-Mendoza, K Holleman, F Cioppi, ... Genetics in Medicine 22 (12), 1956-1966, 2020 | 104 | 2020 |
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 | 103 | 2014 |
X-linked and autosomal recessive Alport syndrome: pathogenic variant features and further genotype-phenotype correlations J Savige, H Storey, H Il Cheong, H Gyung Kang, E Park, P Hilbert, ... PLoS One 11 (9), e0161802, 2016 | 98 | 2016 |