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| 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 | 254 | 2013 |
| 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 | 253 | 2014 |
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| 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 | 219 | 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 | 209 | 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 | 194 | 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, J Chen, ... Journal of the American Society of Nephrology 29 (9), 2348-2361, 2018 | 179 | 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 | 168 | 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 | 162 | 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 | 143 | 2012 |
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| Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract A Vivante, DY Hwang, S Kohl, J Chen, S Shril, J Schulz, A Van Der Ven, ... Journal of the American Society of Nephrology 28 (1), 69-75, 2017 | 99 | 2017 |
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Edgar Otto, PhDAssociate Research Scientist, Internal Medicine-Nephrology, University of MichiganDirección de correo verificada de umich.edu
