Richard J Smith
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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
Sensorineural hearing loss in children
RJH Smith, JF Bale Jr, KR White
The Lancet 365 (9462), 879-890, 2005
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
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
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
Nonsyndromic hearing impairment: unparalleled heterogeneity.
G Van Camp, PJ Willems, RJ Smith
American journal of human genetics 60 (4), 758, 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
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
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
Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
K Verhoeven, L Van Laer, K Kirschhofer, PK Legan, DC Hughes, ...
Nature genetics 19 (1), 60-62, 1998
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
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
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
A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing …
FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ...
Journal of medical genetics 42 (7), 588-594, 2005
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
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
Prevalence and evolutionary origins of the del (GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
I Del Castillo, MA Moreno-Pelayo, FJ Del Castillo, Z Brownstein, S Marlin, ...
The American Journal of Human Genetics 73 (6), 1452-1458, 2003
Laryngomalacia and its treatment
DR Olney, JH Greinwald Jr, RJH Smith, NM Bauman
The Laryngoscope 109 (11), 1770-1775, 1999
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
AE Shearer, AP DeLuca, MS Hildebrand, KR Taylor, J Gurrola, S Scherer, ...
Proceedings of the National Academy of Sciences 107 (49), 21104-21109, 2010
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
KN Alagramam, H Yuan, MH Kuehn, CL Murcia, S Wayne, ...
Human molecular genetics 10 (16), 1709-1718, 2001
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