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Publications

2008 publications of the Riazuddin and Ahmed labs.

  • Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB. (2008)
  • Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
  • Hum Mutat 29(4):502-11
  • Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. (2008)
  • Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35.
  • Am J Hum Genet 82:125-138
  • Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RWJ, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Abdelaziz T, Zwaag BVD, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Çaylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. (2008)
  • Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
  • Nat Genet 40(11):1335-40
  • Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB. (2008)
  • Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
  • Hum Genet 124(3):215-23
  • Ahmed ZM, Kjellstrom S, Haywood-Watson II RJL, Bush RA, Hampton LL, Battey JF, Riazuddin S, Frolenkov G, Sieving PA, Friedman TB. (2008)
  • Double homozygous waltzer and Ames waltzer mice provide no evidence of retinitis pigmentosa.
  • Mol Vision 14:2227-2236
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