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2011
Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux, S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet. 88(1):19-29. 2011.
Ahmed ZM,* Riazuddin S,* Hegde RS, Khan SN, Nasir I, Shaukat U, Riazuddin S, Butman JA, Griffith AJ, Friedman TB, Choi BY. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet. 12(1):21. 2011.
Borck G, Rehman AU, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K,Shaikh RS, Ali RA, Khan SN, Goebel I,Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller M, Bahlo M, Najmabadi H,Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJH, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Loss-of-function mutations of ILDR1 cause autosomal recessive hearing impairment DFNB42. Am J Hum Genet 88(2):127-137. 2011.
Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet. 2011.
2010
Kitajiri SI, Sakamoto T, Belyantseva IA, Goodyear RJ, Stepanyan R, Fujiwara I, Bird JE, Riazuddin S, Riazuddin S, Ahmed ZM,Hinshaw JE, Sellers J, Bartles JR, Hammer JA, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB. Actin-bundling protein TRIOBP forms resilient rootlets of hair cell sterocilia essential for hearing. Cell. 141:786-798. 2010.
Hertzano R, Puligilla C, Chan SL, Timothy C, Depireux SA, Ahmed ZM, Wolf J, Eisenman DJ, Friedman TB, Riazuddin S, Kelley MW, Strome Se. CD44 is a marker for the outer pillar cells in the early postnatal mouse inner ear.J Assoc Res Otolaryngol. 2010.
Rehman AU, Morell RJ, Khan SY, Belyantseva IA, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB. Targeted capture and next-generation sequencing identifies C9orf75, encoding TAPERIN, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet. 2010.
Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman A, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Eur J Hum Genet. 18(1):125-9. 2010.
Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF.A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 87(4):523-531. 2010.
2009
Schultz JM, Khan SK, Ahmed ZM, Riazuddin S, Waryah AA, Chhatre D, Starost MF, Ploplis B, Buckley S, Velasquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ. Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. American J Hum Genet. 85(1):25-39. 2009.
Waryah AM, Rehman A, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU, Riazuddin S, Friedman TB, Riazuddin S. DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15. Clinical Genetics. 76(3):270-5. 2009.
Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman A, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Eur J Hum Genet. 2009.
Riazuddin S, Anwar S, Janssen A, Ahmed ZM, Khan SY, Belyantseva I, Jochen E, Friedman PL, Riazuddin S, Fahlke C, Friedman TB. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 85:1-8. 2009.
Ahmed ZM, Riazuddin S, Khan S, Friedman P, Riazuddin S, Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet. 75:86-91. 2009.
Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet. 75:237-43. 2009.
Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Jaleel AU, Khan SY, Griffith AJ, Friedman TB, Riazuddin S. SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred’s syndrome in Pakistanis. J Hum Genet. 54(5):266-70. 2009.
2008
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. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat. 29(4):502-11. 2008.
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. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet. 82:125-38. 2008.
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. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet. 40(11):1335-40. 2008.
Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Hum Genet. 124(3):215-23. 2008.
Ahmed ZM, Kjellstrom S, Haywood-Watson II RJL, Bush RA, Hampton LL, Battey JF, Riazuddin S, Frolenkov G, Sieving PA, Friedman TB. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinitis degeneration. Mol Vision. 14:2227-36. 2008.
Other Significant Publications
Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Hum Genet. 120:789-93. 2007.
Ahmed ZM*, Khan SY*, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S. Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24. Hum Mutat. 28(5):417-23. 2007. * co-first authors
Hertzano R, Dror AA, Montcouquiol M, Ahmed ZM, Ellsworth B, Camper S, Friedman TB, Kelley MW, Avraham KB. Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system. Euro J Neurosci. 25(4):999-1005. 2007.
Ahmed ZM*, Nal N*, Erkal E, Alper O, Lüleci G, Dinç O, Chattaraj P, Riazuddin S, Boger E, Kabra M, Ghosh M, Riazuddin S, Morell RJ, Friedman TB. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat. 28(10):1014-9. 2007. * co-first authors
Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben-Yosef T. In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. Hum Genet. 122:373-81. 2007.
Ain Q, Nazli S, Riazuddin S, Jaleel A, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum Genet. 122:445-50. 2007.
Kitajiri S, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin Genet. 72:546-50. 2007.
Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Paven W, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet. 78(1):137-143. 2006.
Ahmed ZM,* Shabbir I,* Khan SN, Riazuddin S, Ghosh M, Kabra M, Morell RJ, Belyantseva IA, Friedman TB, Riazuddin S. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet. 43(8):34-640. 2006. * co-first authors
Ahmed ZM*, Haywood-Watson II RJL*, Kjellstrom S*, Bush RA, Takada Y, Alagramam KN, Hampton LL, Battey JF, Sieving PA, Friedman TB. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. IOVS. 47(7):3074-84. 2006. * co-first authors
Ahmed ZM*, Goodyear R*, Riazuddin S, Lagziel A, Behra M, Burgess SM, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov G, Belyantseva IA, Richardson G, Friedman TB. The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neuroscience. 26:7022-34. 2006. * co-first authors
Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB. Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet. 79(6):1040-51. 2006.
Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S. A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. Hum Gene. 116:17-22. 2005.
Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB, Riazuddin S. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum Genet. 116:407-12. 2005.
Lagziel A, Ahmed ZM, Schultz JM, Morell RJ, Belyantseva IA, Friedman TB. Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Bio. 280:295-306. 2005.
Belyantseva IA, Boger ET, Naz S, Frolenkov GI, Sellers JR, Ahmed ZM, Griffith AJ, Friedman TB. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Bio. 7(2):148-56. 2005.
Sadiq R, Ramzan K, Nazli S, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Riazuddin S. A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. Am J Med Genet. 138(4):392-5. 2005.
Mohiddin SA, Ahmed ZM, Griffith AJ, Tripodi D, Friedman TB, Fananapazir L, Morell RJ. Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in Unconventional Myosin VI (MYO6). J Med Genet. 41(4):309-14. 2004.
Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet. 5:24. 2004.
Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet. 72:1315–22. 2003.
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A mutation of PCDH15 among Ashkenazi jews with the type 1 Usher syndrome. N Engl J Med. 348:1664-70. 2003.
Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabir MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 12(24):3215-23. 2003.
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PSN, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJB, Wilcox ER, Friedman TB, Griffith AJ. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet. 30(3):277-84. 2002.
Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PSN, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. Nonsyndromic Recessive Deafness DFNB18 and Usher Syndrome Type IC Are Allelic Mutations of USHIC. Hum Genet. 110:527–31. 2002.
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 68(1):26-37. 2001.
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 69(1):25-34. 2001.
Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet. 38(6):396-403. 2001.
Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed ZM, Riazuddin S, Liang Y, Verma IC, Puthezhath, Menon SN, Smith TN, Lalwani A, Smith ACM, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB.Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith Magenis syndrome.Hum Genet. 109:535-41. 2001.
Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nat Genet. 26(4):431-4. 2000.
Reviews
Friedman TB, Ahmed ZM, Schultz JM. Usher Syndrome Type 1: Genotype-Phenotype Relationships. Retina. 25(8 Suppl):S40-2. 2005.
Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The Molecular Genetics of Usher syndrome. Clin Genet. 63:431–44. 2003.
Friedman TB, Schultz JM, Ben-Yosef T, Pryor SP, Lagziel A, Fisher RA, Wilcox ER, Riazuddin S, Ahmed ZM, Belyantseva IA, Griffith AJ. Recent advances in the understanding of syndromic forms of hearing loss. Ear & Hearing. 24:289-302. 2003.
Book Chapters
Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer C. Usher syndrome: Hearing loss with Vision loss. In: Adv Otorhinolaryngol. Basel, Karger. 2010.
Ahmed ZM, Riazuddin S, Friedman TB, Riazuddin S, Wilcox ER, Griffith AJ. Clinical manifestations of DFNB29 deafness. In: The Clinical presentation of Genetic Hearing Impairment. Cremers Cor WRJ, Smith R (eds). Adv Otorhinolaryngol. Basel, Karger, 61, pp156-160. 2002.
Riazuddin S, Ahmed ZM, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Genetic modifiers of hereditary hearing loss. In: The Clinical presentation of Genetic Hearing Impairment. Cremers Cor WRJ, Smith R (eds). Adv Otorhinolaryngol. Basel, Karger, 61, pp224-229. 2002.
