Nephronophthisis-associated ciliopathies F Hildebrandt, W Zhou Journal of the American Society of Nephrology 18 (6), 1855-1871, 2007 | 471 | 2007 |
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 | 438 | 2011 |
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 | 430 | 2012 |
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840-850, 2010 | 391 | 2010 |
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ... The Journal of clinical investigation 123 (12), 5179-5189, 2013 | 378 | 2013 |
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair W Zhou, EA Otto, A Cluckey, R Airik, TW Hurd, M Chaki, K Diaz, FP Lach, ... Nature genetics 44 (8), 910-915, 2012 | 275 | 2012 |
Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy EJ Horstick, JW Linsley, JJ Dowling, MA Hauser, KK McDonald, ... Nature communications 4 (1), 1952, 2013 | 267 | 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 | 256 | 2013 |
Oncogenic role of THOR, a conserved cancer/testis long non-coding RNA Y Hosono, YS Niknafs, JR Prensner, MK Iyer, SM Dhanasekaran, ... Cell 171 (7), 1559-1572. e20, 2017 | 238 | 2017 |
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 MA Zariwala, HY Gee, M Kurkowiak, DA Al-Mutairi, MW Leigh, TW Hurd, ... The American Journal of Human Genetics 93 (2), 336-345, 2013 | 220 | 2013 |
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. HY Gee, F Zhang, S Ashraf, S Kohl, CE Sadowski, V Vega-Warner, ... The Journal of clinical investigation 125 (6), 2375-2384, 2015 | 208 | 2015 |
Inside-out Ca 2+ signalling prompted by STIM1 conformational switch G Ma, M Wei, L He, C Liu, B Wu, SL Zhang, J Jing, X Liang, A Senes, ... Nature communications 6 (1), 1-14, 2015 | 201 | 2015 |
Assaying autophagic activity in transgenic GFP-Lc3 and GFP-Gabarap zebrafish embryos C He, CR Bartholomew, W Zhou, DJ Klionsky Autophagy 5 (4), 520-526, 2009 | 201 | 2009 |
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 | 195 | 2009 |
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 | 172 | 2011 |
Inducible podocyte injury and proteinuria in transgenic zebrafish W Zhou, F Hildebrandt Journal of the American Society of Nephrology 23 (6), 1039-1047, 2012 | 169 | 2012 |
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 | 166 | 2009 |
Characterization of mesonephric development and regeneration using transgenic zebrafish W Zhou, RC Boucher, F Bollig, C Englert, F Hildebrandt American Journal of Physiology-Renal Physiology 299 (5), F1040-F1047, 2010 | 162 | 2010 |
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 | 157 | 2010 |
Mutations in EMP2 cause childhood-onset nephrotic syndrome HY Gee, S Ashraf, X Wan, V Vega-Warner, J Esteve-Rudd, S Lovric, ... The American Journal of Human Genetics 94 (6), 884-890, 2014 | 142 | 2014 |