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| COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness SF Heeringa, G Chernin, M Chaki, W Zhou, AJ Sloan, Z Ji, LX Xie, ... The Journal of clinical investigation 121 (5), 2013-2024, 2011 | 436 | 2011 |
| TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ... Nature genetics 43 (3), 189-196, 2011 | 411 | 2011 |
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery CAG Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB ... Nat Genet. 48 (9), 1071-6, 2016 | 361 | 2016 |
| Cystinosis: a review MA Elmonem, KR Veys, NA Soliman, M Van Dyck, LP Van Den Heuvel, ... Orphanet journal of rare diseases 11, 1-17, 2016 | 284 | 2016 |
| Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract DY Hwang, GC Dworschak, S Kohl, P Saisawat, A Vivante, AC Hilger, ... Kidney international 85 (6), 1429-1433, 2014 | 261 | 2014 |
| Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy J Halbritter, JD Porath, KA Diaz, DA Braun, S Kohl, M Chaki, SJ Allen, ... Human genetics 132, 865-884, 2013 | 258 | 2013 |
| ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling HY Gee, P Saisawat, S Ashraf, TW Hurd, V Vega-Warner, H Fang, ... The Journal of clinical investigation 123 (8), 3243-3253, 2013 | 253 | 2013 |
| Whole exome sequencing of patients with steroid-resistant nephrotic syndrome JK Warejko, W Tan, A Daga, D Schapiro, JA Lawson, S Shril, S Lovric, ... Clinical Journal of the American Society of Nephrology 13 (1), 53-62, 2018 | 231 | 2018 |
| ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 S Hoff, J Halbritter, D Epting, V Frank, TMT Nguyen, J Van Reeuwijk, ... Nature genetics 45 (8), 951-956, 2013 | 218 | 2013 |
| 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 | 199 | 2017 |
| Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract AT Van Der Ven, DM Connaughton, H Ityel, N Mann, M Nakayama, ... Journal of the American Society of Nephrology 29 (9), 2348-2361, 2018 | 187 | 2018 |
| Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis A Daga, AJ Majmundar, DA Braun, HY Gee, JA Lawson, S Shril, ... Kidney international 93 (1), 204-213, 2018 | 184 | 2018 |
| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy EA Otto, G Ramaswami, S Janssen, M Chaki, SJ Allen, W Zhou, R Airik, ... Journal of medical genetics 48 (2), 105-116, 2011 | 170 | 2011 |
| High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation … J Halbritter, K Diaz, M Chaki, JD Porath, B Tarrier, C Fu, JL Innis, SJ Allen, ... Journal of medical genetics 49 (12), 756-767, 2012 | 142 | 2012 |
| FAT1 mutations cause a glomerulotubular nephropathy HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, ... Nature communications 7 (1), 10822, 2016 | 124 | 2016 |
| Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment S Ashraf, H Kudo, J Rao, A Kikuchi, E Widmeier, JA Lawson, W Tan, ... Nature communications 9 (1), 1960, 2018 | 120 | 2018 |
| 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 | 109 | 2019 |
| Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization AA Bizet, A Becker-Heck, R Ryan, K Weber, E Filhol, P Krug, J Halbritter, ... Nature communications 6 (1), 8666, 2015 | 106 | 2015 |
| Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity DA Braun, M Schueler, J Halbritter, HY Gee, JD Porath, JA Lawson, ... Kidney international 89 (2), 468-475, 2016 | 105 | 2016 |
Edgar Otto, PhDAssociate Research Scientist, Internal Medicine-Nephrology, University of MichiganVerified email at umich.edu
