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Saima  Riazuddin

Saima Riazuddin Ph.D., MPH, MBA

Academic Title: Professor
Primary Appointment: Otorhinolaryngology-Head & Neck Surgery
Secondary Appointments: Biochemistry and Molecular Biology
Location: BioPark1, 800 West Baltimore St, 400-L
Phone: 410-706-3094
Lab: 410-706-6161

Personal History:

Dr. Saima Riazuddin is currently an associate professor of Otolaryngology-Head and Neck Surgery at the University of Maryland, School of Medicine. She is also an adjunct professor at the National Center of Excellence in Molecular Biology, University of the Punjab, Pakistan. Dr. Riazuddin received her Bachelors of Science at the University of the Punjab in Pakistan and then obtained her PhD in Molecular Genetics from the same University. Dr. Riazuddin completed her post-doctoral training at the National Institute of Deafness and Other Communication Disorders, National Institutes of Health (NIDCD/NIH). She was subsequently appointed as an Assistant Professor in the Division of Pediatric Otolaryngology Head & Neck Surgery, at the Cincinnati Children’s Hospital and the Department of Otolaryngology at the College of Medicine, University of Cincinnati. At the Cincinnati Childrens Hospital Dr. Riazuddin was the recipient of the Research Achievement award for her dedicated commitment and excellence in the pursuit of inner ear research at the Cincinnati Children’s Hospital. Dr. Riazuddin’s research has been published in highly ranked scientific journals. Dr. Riazuddin is the principal investigator of two NIH R01 grants and multiple other national and international grants.

Recent Honors:

  • 2013: Research Achievement Award by the Cincinnati Children’s Hospital Research Foundation (selected from among 92 faculty nominations)
  • 2011: Laureate of the IAS-COMSTECH Ibrahim Memorial Award by the Islamic World Academy at the annual meeting in Doha, Qatar. (selected from nominations of 57 countries of the Organization of the Islamic Conference (OIC) and the OIC science community worldwide)
  • 2008: TWAS Young Affiliate-ship from Central and South Asian region at the annual meeting in Mexico (selected among scientists from central and south Asian countries)
  • 2007: Pride of Performance awarded by the President of Pakistan (for Research Excellence)
  • 2007: C.W. Cotterman award by the American Society of Human Genetics (for the best publication of the year)
  • 2005: National Research Council Fellowship Research Award by the National Academy of Sciences

Research Interests:

The focus of Dr. Riazuddin’s laboratory is investigating the genetic factors associated with hearing impairment and understanding the precise mechanism of various forms of hearing dysfunction using human pedigrees, mutant mouse models and zebrafish as tools. A complementary study in her lab is focused on identifying the modifier genes that can preclude the effect of disease causing mutations and the mechanism, by which they confer resistance to pathogenic mutation. The long-term goal of this research is to contribute to a better understanding of the molecular mechanism of inherited hearing loss with the aim of discovering drugs or treatments to prevent this disease.

Lab Techniques and Equipment:

  • Molecular Genetics including genetic mapping, linkage analysis, next generation sequencing, cloning, gene expression, protein interaction studies, transgenic and gene targeted mice and zebrafish knockodown.
  • Tissue culture studies including cell lines and explant cultures
  • Immunohistochemistry, western blot, insitu hybridization

Positions Available:

Positions are available for postdocotoral fellows. We are seeking talented postdoctoral fellows to participate in new project to investigate the molecular mechanisms of inherited hearing impairment. The experiments involve interdisciplinary approaches ranging from gene identification studies in human pedigrees using the next generation sequencing and linkage analysis to analyses of gene function using in vitro approaches. The projects take advantage of transgenic, gene targeted knockout and knock-in mice to evaluate the hearing phenotype in mice and to determine the pathophysiology resulting from loss of function. In addition for ex vivo studies, zebrafish morphants and CRISPR based mutants are routinely developed and evaluated. This is an opportunity to become involved in cutting edge research that is tightly coordinated between in vitro and in vivo experimental approaches.

Grants & Contracts:

  • R01DC011803-01A1 (PI: Riazuddin)
    04/2012 - 03/2017
    Identifying Genes for Non-syndromic Recessive Deafness- A Collaborative Study.
  • R01DC011748-01 (PI: Riazuddin)
    07/2012 - 06/2016
    Functional Analyses of Tricellular Tight Junction in Hearing and Deafness.
  • 3RO1GM090158-02S1 (PI: Richard Kahn, Co-PI: Riazuddin)
    08/2012 - 07/2014
    The regulation and cellular activities of the Arl2 GTPase.
  • International Grant from Action on Hearing loss previously known as Royal National Institute for Deaf People (PI: Riazuddin)
    12/2011 - 12/2014
    Understanding Suppression of Deafness due to Dominant Modifier Gene.
  • Hearing Health Foundation (PI: Gowri Nayak, Co-PI/Mentor:  Riazuddin)
    07/2013 - 06/2014
    Signaling defects due to tricellulin deficiency.


Peer Reviewed Publications:

View an update and complete list of publications.

  1. Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Ali RH, Smith JD; University of Washington Center for Mendelian Genomics, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Adenylate Cyclase 1 (ADCY1) Mutations Cause Recessive Hearing Impairment in Humans and Defects in Hair Cell Function and Hearing in Zebrafish. Human Molecular Genetics. 2014, 23:3289-98.
  2. Rehman A, Lyn PR, Cortez S, Morell RJ, Drummond M, Ito T, Lee K, Khan A, Asim M, Wasif B, Ayub M, Ali R, Raza S, Nickerson D, Shendure J, Bamshad M, Riazuddin S, Bellington N, Khan S, Friedman P, Griffith A, Ahmad W,  Riazuddin S, Leal S, Friedman T. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics.2014,  94:144-52.
  3. Nayak G, Lee S, Yousaf R, Edlemann S, Belyantseva I, Sinha G, Rafeeq M, Jones SM, Van Itallie CM, Anderson J, Forge A, Frolenkov GI, Riazuddin S. Tricellulin deficiency affects tight junction architecture and cochlear hair cells. Journal of Clinical Investigation.2013, 123:4036-49.(Commentary in JCI by Professor Avraham and colleagues).
  4. Jaworek TJ, Richard EM, Ivanova AA, Giese APJ, Choo DI, Khan SN, Kahn RA, Riazuddin S. An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLOS Genetics. 2013, 9:e1003774.
  5. Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM. Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngology Head Neck Surgery. 2013, 149: 478-87.
  6. Bashir Z, Latief  N,  Belyantseva IA, Iqbal F, Khan SN, Friedman, TB, Riazuddin S, Riazuddin S. Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. Journal of Human Genetics. 2012, 58:102-08.
  7. Riazuddin S, Belyantseva I, Giese A, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Alterations of the CIB2 calcium- and integrin-binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nature Genetics. 2012, 44:1265-71. (Featured in Editor’s Choice of Science Journal).
  8. Jaworek TJ, Kausar T, Bell SM, Tariq N, Maqsood MI, Sohail A, Ali M, Rasool S, Riazuddin S, Shaikh RS, Ahmed ZM. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. Orphanet Journal of Rare Diseases. 2012, 7 (1):44.
  9. Jaworek TJ, Bhatti R, Latief N, Khan SN, Riazuddin S, Ahmed ZM. USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. Journal of Human Genetics. 2012, 57:633-37.
  10. Naeem MA, Chavali VRM, Ali Shhbaz, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. GNAT1 associated with autosomal recessive congenital stationary night blindness. Investigative Ophthalmology & Visual Science. 2012, 53:1353-61.
  11. Ali RA, Rehman AU, Khan S, Husnain T, Riazuddin S, Friedman TB, Ahmed ZM, Riazuddin S*. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16P13.3. Clinical Genetics. 2011, 81:498-00.
  12. Iqbal M, Naeem MA, Riazuddin A, Ali S,1 Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik FJ, Riazuddin S. Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families. Archives of Ophthalmology. 2011, 129:1351-57.
  13. Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. Journal of Medical Genetics. 2011, 48:767-75.
  14. Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S,  Riazuddin S*. Molecular and clinical studies of X-linked deafness among Pakistani families. Journal of Human Genetics. 2011, 56:534-40.
  15. 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. Human Genetics. 2011, 130:759-65.
  16. Riazuddin S, Ahmed ZM, Shaukat U, Bhinder MA, Khan SY, Riazuddin S, Griffith AJ, Friedman TB, Choi BY. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Medical Genetics. 2011, 12:21
  17. 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 MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, 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. American Journal of Human Genetics. 2011, 88: 127-37.
  18. 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. American Journal of Human Genetics. 2011, 88:19-29.
  19. Kitajiri S, Sakamoto T, Goodyear R, Belyantseva I, Stepanyan R, Fujiwara I, Riazuddin S, Bird J, Riazuddin S, Ahmed ZM, Hinshaw J, Hammer J, Bartles J, Sellers J, Richardson G, Frolenkov G, Griffith AJ, Friedman TB. Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell. 2010, 141:786-98.
  20. 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. American Journal of Human Genetics. 2010, 86:378-388.
  21. Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJH, Kohrman DC. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. American Journal of Human Genetics. 2010, 86:148-160.
  22. Riazuddin S*, Khan SY*, Shahzad M, Ahmed Z, Zafar AU, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. European Journal of Human Genetics. 2010,18:125-9.
  23. Wariyah AM, Rehman AU, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU, Riazuddin S, Friedman TB, and Riazuddin S. DFNB74, a new autosomal recessive nonsyndromic hearing impairment locus at chromosome 12q14.2-q15. Clinical Genetics. 2009, 76:270-75.
  24. 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. American Journal of Human Genetics. 2009, 85: 273-280.
  25. Schultz JM, Khan SY, Ahmed ZM, Riazuddin S, Chatre D, Ploplis B, Buckley S, Velasquez D, Kabra M, Ghosh M, Wilcox ER, Ahmad W, Leal SM, Merlino G, Riazuddin S, Friedman TB, Morell RJ. Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. American Journal of Human Genetics. 2009, 85:25-39.
  26. 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. Journal of Human Genetics. 2009, 54:266-70.
  27. 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. Clinical Genetics. 2009, 75: 237-43.
  28. 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. Clinical Genetics. 2009, 75:86-91.
  29. Ahmed ZM, Kjellstrom S, Haywood-Watson II RJL, Bush RA, Hampton LL, Battey JF, Riazuddin S, Forlenkov G, Sieving PA, Friedman TB. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Molecular Vision. 2008, 14: 2227-36.
  30. 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. Human Genetics. 2008, 124:215-23.
  31. Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RWJ, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Abdelaziz T, van der Zwaag B, 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. Nature Genetics. 2008, 40: 1335-1340.
  32. Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, 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. American Journal of Human Genetics. 2008, 82:125-138.
  33. Riazuddin S, Nazli S, Sadiq R, Yang Yi, Khan SN, Sabir F, Javid FT, Wilcox ER, Boger ET, Seller JR, Ahmed ZM, Riazuddin S, Friedman TB. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Human Mutation. 2008, 29:502-511.
  34. 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. Human Genetics. 2007, 122:445-450.
  35. 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. Human Genetics. 2007, 120:789-793.
  36. Khan SY*, Ahmed ZM*, 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 recessive hearing loss at the DFNB24 locus. Human Mutation. 2007, 28(5):417-423.
  37. 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. Human Mutation. 2007, 28(10):1014-1019.
  38. Riazuddin S, Ramzan K, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva I, Forge A,  Riazuddin S, Friedman TB. Tricellulin is a Tight Junction Protein Necessary for Hearing. American Journal of Human Genetics. 2006, 79:1040-1051.
  39. Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, , Behra M, Burgess SM, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov G, Belyantseva I, Richardson G, Friedman TB. The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. Journal of Neuroscience. 2006, 26:7022-34.
  40. Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S and Friedman TB. Mutations in TRIOBP, which encodes a putative cytoskeletal organizing protein, are associated with nonsyndromic recessive deafness. American Journal of Human Genetics. 2006, 78:137-43.
  41. Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. Journal of Medical Genetics. 2006, 43:634-40.
  42. Shaikh RS, Ramzan K, Nazli S, Sattar S, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Riazuddin S. A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. Journal of Medical Genetics. 2005, 138A: 392-95.
  43. Ahmed 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. Human Genetics. 2005, 116: 407-12.
  44. Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed, ZA, Friedman, TB, Wilcox, ER, Riazuddin S. A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. Human Genetics. 2005, 116:17-22.
  45. Ahmed ZM, Li, XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Khillon 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 Medical Genetics. 2004, 5: 24.
  46. Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF, Riazuddin, S,   Wilcox ER, Friedman TB. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. Journal of Medical Genetics. 2004, 41:591-595.
  47. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar 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. Human Molecular Genetics. 2003, 12:3215-23.
  48. 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. American Journal of Human Genetics. 2003, 72:1315-22.
  49. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ. Origin and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. Journal of Medical Genetics. 2003, 40:242-48.
  50. Naz S, , Alastii F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER, Riazuddin S. Distinctive audiometric profiles associated with DFNB21 alleles of TECTA. Journal of Medical Genetics. 2003, 40:360-63.
  51. Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJH, Wilcox ER. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. American Journal of Human Genetics. 2002, 71:632-36.
  52. Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CWRJ, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. American Journal of Human Genetics. 2002, 71:262-75.
  53. Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon SN, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. 2002, Human Genetics. 110:527-31.
  54. Kurima K, Yang Y, Riazuddin S, Ahmed Z, Naz S, Mo J, Makishima T, Ghosh M,  Menon SN, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Hampton LL, Battey JF Jr, Wilcox ER, Friedman TB, and Griffith AJ. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nature Genetics. 2002, 30:277-84.
  55. Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, 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. Human Genetics. 2001, 109:535-41.
  56. 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.  American Journal of Human Genetics.2001, 69:25-34.
  57. 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. American Journal of Human Genetics. 2001, 68:26-37.
  58. Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva IA, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell. 2001, 104:165-72.
  59. Riazuddin S*, Ben-Yosef T*, Wattenhofer M*, 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. Journal of Medical Genetics. 2001, 38:396-00.
  60. 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. Nature Genetics. 2000, 26: 431-34