| Association of trypanolytic ApoL1 variants with kidney disease in African Americans G Genovese, DJ Friedman, MD Ross, L Lecordier, P Uzureau, ... Science 329 (5993), 841-845, 2010 | 2066 | 2010 |
| Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis JM Kaplan, S H Kim, KN North, H Rennke, L A Correia, HQ Tong, ... Nature genetics 24 (3), 251-256, 2000 | 1608 | 2000 |
| Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism MR Pollak, EM Brown, YHW Chou, SC Hebert, SJ Marx, B Stelnmann, ... Cell 75 (7), 1297-1303, 1993 | 1075 | 1993 |
| TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function J Reiser, KR Polu, CC Möller, P Kenlan, MM Altintas, C Wei, C Faul, ... Nature genetics 37 (7), 739-744, 2005 | 1038 | 2005 |
| Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor GB Adams, KT Chabner, IR Alley, DP Olson, ZM Szczepiorkowski, ... Nature 439 (7076), 599-603, 2006 | 935 | 2006 |
| APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy JB Kopp, GW Nelson, K Sampath, RC Johnson, G Genovese, P An, ... Journal of the American Society of Nephrology 22 (11), 2129-2137, 2011 | 877 | 2011 |
| Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation MR Pollak, EM Brown, HL Estep, PN McLaine, O Kifor, J Park, SC Hebert, ... Nature genetics 8 (3), 303-307, 1994 | 642 | 1994 |
| A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism C Ho, DA Conner, MR Pollak, DJ Ladd, O Kifor, HB Warren, EM Brown, ... Nature genetics 11 (4), 389-394, 1995 | 634 | 1995 |
| Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis EJ Brown, JS Schlöndorff, DJ Becker, H Tsukaguchi, SJ Tonna, ... Nature genetics 42 (1), 72-76, 2010 | 506 | 2010 |
| Expression and characterization of inactivating and activating mutations in the human Ca2+ o-sensing receptor M Bai, S Quinn, S Trivedi, O Kifor, SHS Pearce, MR Pollak, K Krapcho, ... Journal of Biological Chemistry 271 (32), 19537-19545, 1996 | 491 | 1996 |
| 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 | 370 | 2013 |
| Calcium-ion–sensing cell-surface receptors EM Brown, M Pollak, CE Seidman, JG Seidman, YHW Chou, D Riccardi, ... New England Journal of Medicine 333 (4), 234-240, 1995 | 358 | 1995 |
| Innate immunity pathways regulate the nephropathy gene Apolipoprotein L1 B Nichols, P Jog, JH Lee, D Blackler, M Wilmot, V D'agati, G Markowitz, ... Kidney international 87 (2), 332-342, 2015 | 346 | 2015 |
| Mice deficient in α-actinin-4 have severe glomerular disease CH Kos, TC Le, S Sinha, JM Henderson, SH Kim, H Sugimoto, R Kalluri, ... The Journal of clinical investigation 111 (11), 1683-1690, 2003 | 331 | 2003 |
| NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele H Tsukaguchi, A Sudhakar, TC Le, T Nguyen, J Yao, JA Schwimmer, ... The Journal of clinical investigation 110 (11), 1659-1666, 2002 | 328 | 2002 |
| Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing A Kirby, A Gnirke, DB Jaffe, V Barešová, N Pochet, B Blumenstiel, C Ye, ... Nature genetics 45 (3), 299-303, 2013 | 311 | 2013 |
| Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. MR Pollak, YH Chou, SJ Marx, B Steinmann, DE Cole, ML Brandi, ... The Journal of clinical investigation 93 (3), 1108-1112, 1994 | 302 | 1994 |
| Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis S Akilesh, H Suleiman, H Yu, MC Stander, P Lavin, R Gbadegesin, ... The Journal of clinical investigation 121 (10), 4127-4137, 2011 | 294 | 2011 |
| The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans BI Freedman, JB Kopp, CD Langefeld, G Genovese, DJ Friedman, ... Journal of the American Society of Nephrology 21 (9), 1422-1426, 2010 | 278 | 2010 |
| The glomerulus: the sphere of influence MR Pollak, SE Quaggin, MP Hoenig, LD Dworkin Clinical Journal of the American Society of Nephrology 9 (8), 1461-1469, 2014 | 277 | 2014 |
Giulio GenoveseStanley Canter at Broad Institute在 broadinstitute.org 的电子邮件经过验证
