| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ... Nature genetics 38 (6), 674-681, 2006 | 728 | 2006 |
| Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397-1405, 2006 | 655 | 2006 |
| Nephronophthisis: disease mechanisms of a ciliopathy F Hildebrandt, M Attanasio, E Otto Journal of the American Society of Nephrology 20 (1), 23-35, 2009 | 476 | 2009 |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ... Nature genetics 37 (3), 282-288, 2005 | 450 | 2005 |
| In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ... Human molecular genetics 15 (11), 1847-1857, 2006 | 417 | 2006 |
| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ... Cell 150 (3), 533-548, 2012 | 413 | 2012 |
| Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ... Nature genetics 39 (8), 1018-1024, 2007 | 263 | 2007 |
| A systematic approach to mapping recessive disease genes in individuals from outbred populations F Hildebrandt, SF Heeringa, F Rüschendorf, M Attanasio, G Nürnberg, ... PLoS genetics 5 (1), e1000353, 2009 | 189 | 2009 |
| DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN F Ozaltin, B Li, A Rauhauser, SW An, O Soylemezoglu, II Gonul, ... Journal of the American Society of Nephrology 24 (3), 377-384, 2013 | 172 | 2013 |
| Evidence of oligogenic inheritance in nephronophthisis J Hoefele, MTF Wolf, JF O’Toole, EA Otto, U Schultheiss, G De, ... Journal of the American Society of Nephrology 18 (10), 2789-2795, 2007 | 166 | 2007 |
| Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) EA Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, EL Wise, ... Journal of medical genetics 46 (10), 663-670, 2009 | 162 | 2009 |
| Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ... The Journal of clinical investigation 120 (3), 791-802, 2010 | 150 | 2010 |
| Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Lĝken syndrome J Helou, EA Otto, M Attanasio, SJ Allen, MA Parisi, I Glass, B Utsch, ... Journal of medical genetics 44 (10), 657-663, 2007 | 135 | 2007 |
| Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis MTF Wolf, S Saunier, JF O'Toole, N Wanner, T Groshong, M Attanasio, ... Kidney international 72 (12), 1520-1526, 2007 | 118 | 2007 |
| Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing EA Otto, J Helou, SJ Allen, JF O'Toole, EL Wise, S Ashraf, M Attanasio, ... Human mutation 29 (3), 418-426, 2008 | 110 | 2008 |
| Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome B Utsch, JA Sayer, M Attanasio, RR Pereira, M Eccles, HC Hennies, ... Pediatric Nephrology 21, 32-35, 2006 | 105 | 2006 |
| Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome B Utsch, JA Sayer, M Attanasio, RR Pereira, M Eccles, HC Hennies, ... Pediatric Nephrology 21, 32-35, 2006 | 105 | 2006 |
| Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains MTF Wolf, BE Mucha, M Attanasio, I Zalewski, SM Karle, HPH Neumann, ... Kidney international 64 (5), 1580-1587, 2003 | 102 | 2003 |
| Persistent increase in mitochondrial superoxide mediates cisplatin-induced chronic kidney disease KA Mapuskar, H Wen, DG Holanda, P Rastogi, E Steinbach, R Han, ... Redox biology 20, 98-106, 2019 | 99 | 2019 |
| Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies HY Gee, EA Otto, TW Hurd, S Ashraf, M Chaki, A Cluckey, V Vega-Warner, ... Kidney international 85 (4), 880-887, 2014 | 84 | 2014 |
