| A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration GS Hageman, DH Anderson, LV Johnson, LS Hancox, AJ Taiber, ... Proceedings of the National Academy of Sciences 102 (20), 7227-7232, 2005 | 2351 | 2005 |
| Sensorineural hearing loss in children RJH Smith, JF Bale, KR White The Lancet 365 (9462), 879-890, 2005 | 1017 | 2005 |
| The hereditary hearing loss homepage G Van Camp, RJH Smith Journal of audiological medicine/International Association of Physicians in …, 1997 | 828 | 1997 |
| C3 glomerulopathy: consensus report MC Pickering, VD D'agati, CM Nester, RJ Smith, M Haas, GB Appel, ... Kidney international 84 (6), 1079-1089, 2013 | 691 | 2013 |
| Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? N Hilgert, RJH Smith, G Van Camp Mutation Research/Reviews in Mutation Research 681 (2-3), 189-196, 2009 | 671 | 2009 |
| GJB2 mutations and degree of hearing loss: a multicenter study RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ... The American Journal of Human Genetics 77 (6), 945-957, 2005 | 671 | 2005 |
| Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies Conference THJ Goodship, HT Cook, F Fakhouri, FC Fervenza, V Frémeaux-Bacchi, ... Kidney international 91 (3), 539-551, 2017 | 650 | 2017 |
| Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 JM Bork, LM Peters, S Riazuddin, SL Bernstein, ZM Ahmed, SL Ness, ... The American Journal of Human Genetics 68 (1), 26-37, 2001 | 631 | 2001 |
| Congenital hearing loss AMH Korver, RJH Smith, G Van Camp, MR Schleiss, ... Nature reviews Disease primers 3 (1), 1-17, 2017 | 574 | 2017 |
| Nonsyndromic hearing impairment: unparalleled heterogeneity. G Van Camp, PJ Willems, RJ Smith American journal of human genetics 60 (4), 758, 1997 | 543 | 1997 |
| Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness GE Green, DA Scott, JM McDonald, GG Woodworth, VC Sheffield, ... Jama 281 (23), 2211-2216, 1999 | 519 | 1999 |
| Membranoproliferative glomerulonephritis type II (dense deposit disease): an update GB Appel, HT Cook, G Hageman, JC Jennette, M Kashgarian, ... Journal of the American Society of Nephrology 16 (5), 1392-1403, 2005 | 516 | 2005 |
| SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ... Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004 | 496 | 2004 |
| Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe, CJ Nishimura, ... Human genetics 135, 441-450, 2016 | 487 | 2016 |
| Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment K Verhoeven, LV Laer, K Kirschhofer, PK Legan, DC Hughes, ... Nature genetics 19 (1), 60-62, 1998 | 439 | 1998 |
| Eculizumab for dense deposit disease and C3 glomerulonephritis AS Bomback, RJ Smith, GR Barile, Y Zhang, EC Heher, L Herlitz, ... Clinical Journal of the American Society of Nephrology 7 (5), 748-756, 2012 | 423 | 2012 |
| Clinical diagnosis of the Usher syndromes RJH Smith, CI Berlin, JF Hejtmancik, BJB Keats, WJ Kimberling, RA Lewis, ... American journal of medical genetics 50 (1), 32-38, 1994 | 409 | 1994 |
| Nonsyndromic hearing impairment is associated with a mutation in DFNA5 LV Laer, EH Huizing, M Verstreken, D Zuijlen, JG Wauters, PJ Bossuyt, ... Nature genetics 20 (2), 194-197, 1998 | 391 | 1998 |
| Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations C Campbell, RA Cucci, S Prasad, GE Green, JB Edeal, CE Galer, ... Human mutation 17 (5), 403-411, 2001 | 384 | 2001 |
| Laryngomalacia and its treatment DR Olney, JH Greinwald Jr, RJH Smith, NM Bauman The Laryngoscope 109 (11), 1770-1775, 1999 | 378 | 1999 |
