Richard J. Smith

Top papers

• A common haplotype in the complement regulatory gene factor H ( <i>HF1/CFH</i> ) predisposes individuals to age-related macular degeneration

  Gregory S. Hageman, Don H. Anderson, Lincoln V. Johnson, et al.·2005·Proceedings of the National Academy of Sciences
  ↗ 1,960OA
• Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

  Timothy H.J. Goodship, H. Terence Cook, Fádi Fakhouri, et al.·2016·Kidney International
  ↗ 683OA
• C3 glomerulopathy: consensus report

  Matthew C. Pickering, Vivette D. D’Agati, Carla Nester, et al.·2013·Kidney International
  ↗ 631OA
• Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

  Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer, et al.·2016·Human Genetics
  ↗ 584OA
• GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

  Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, et al.·2005·The American Journal of Human Genetics
  ↗ 555OA
• A candidate prostate cancer susceptibility gene at chromosome 17p

  Sean V. Tavtigian, Jacques Simard, David H.F. Teng, et al.·2001·Nature Genetics
  ↗ 555
• Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

  Julie M. Bork, Linda Peters, Saima Riazuddin, et al.·2001·The American Journal of Human Genetics
  ↗ 554OA
• Congenital hearing loss

  Anna M.H. Korver, Richard J. Smith, Guy Van Camp, et al.·2017·Nature Reviews Disease Primers
  ↗ 525
• Congenital Cytomegalovirus Infection

  Sergio Stagno, David W. Reynolds, Eng‐Shang Huang, et al.·1977·New England Journal of Medicine
  ↗ 492
• Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

  Nele Hilgert, Richard J. Smith, Guy Van Camp·2008·Mutation Research/Reviews in Mutation Research
  ↗ 474OA
• SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

  Rainer Ruf, Pin‐Xian Xu, Derek Silvius, et al.·2004·Proceedings of the National Academy of Sciences
  ↗ 418OA
• Nonsyndromic hearing impairment is associated with a mutation in DFNA5

  Lut Van Laer, E. H. Huizing, Margriet Verstreken, et al.·1998·Nature Genetics
  ↗ 389OA