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Saima Riazuddin, PhD, MPH, MBA

Academic Title:


Primary Appointment:

Otorhinolaryngology-Head & Neck Surgery

Secondary Appointment(s):

BioChemistry&Molecular Biology

Additional Title:



BioPark1, 800 West Baltimore St, 400-L

Phone (Primary):


Phone (Secondary):


Education and Training

1995                B.Sc.   Lahore College of Women University, Pakistan


1998                M.Sc.  Biological Sciences, Quaid-i-Azam University, Pakistan


1999-2001        Pre-doctoral fellow (PhD thesis research work was conducted at NIH, while   course    work was completed at the University of Punjab, Pakistan), National Institute of Deafness and Other Communication Disorders


2001                Ph.D.   Molecular Genetics, University of the Punjab, Pakistan

2001-2005      National Institute of Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Rockville, MD, Post-doctoral research fellow.


2005-2006      NIDCD/NIH, Rockville, MD, National Research Council Research Associate

2006-2009      NIDCD/NIH, Rockville, MD, NIH Research Fellow


2012                M.P.H. Leadership Management and Policy, Department of Public Health, College of Medicine, University of Cincinnati, USA

2012                M.B.A. Business Administration, College of Business, University of Cincinnati


Dr. Saima Riazuddin earned her PhD degrees from the University of Punjab, Pakistan. She completed her pre-doctoral and postdoctoral training at the National Institute for Deafness and Communication Disorders, NIDCD/NIH. In 2009 she joined the Cincinnati Children’s Hospital Medical Center, and University of Cincinnati, Cincinnati, Ohio as an Assistant Professor of Otolaryngology and Human Genetics. She was subsequently promoted to Associate Professor and tenured in 2013. In 2014, Dr. Riazuddin joined the University of Maryland as an Associate Professor of Otorhinolaryngology and Biochemistry, where she was promoted to Professor in 2016.

Dr. Riazuddin's lab is engaged in inner ear and brain research. She utilizes, human genetics, mouse and zebrafish model systems to identify genes responsible for various inherited disorders in human. The results of her reserach are pulished in Nature genetics, Cell, Journal of Clinical Investigtation, PLoS genetics and Molecular Psychiatry.  Dr Riazuddin's scientific accomplishments have earned several national and international awards, including a Medal of Honor by the President of Pakistan.



Research/Clinical Keywords

Hearing loss, vestibular dysfunction, brain disorders, intellectual disability, molecular genetics, cell biology.

Highlighted Publications

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 (featured on cover).

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.

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).

Simon M, Richard EM, Wang X, Shahzad M, Haung VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-sheqaih N, Newmnan WG, Abdenur J, Starr A, Hedge R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T  Riazuddin S*.  Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLOS Genetics. 2015; 11(3):e1005097

Riazuddin S*, Hussain M, de Brouwer AP, Razzaq A, Ahmed ZM, Zahoor MY, Basra AR, Rasheed F, Azhar A, Khan AA, Khan SN, Bokhoven HV*, Riazuddin S*. Exome sequencing identified 30 candidate genes for recessive intellectual disability. Molecular Psychiatry. 2016

Nayak G, Lee S, Yousaf R, Edlemann S, Trincot C, Van Itallie CM, Sinha G, Rafeeq M, Jones SM, Belyantseva I, 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..


Additional Publication Citations

Wilcox ER, Riazuddin S, Riazuddin S. Some deafness-causing mutations can be silenced with the appropriate gene partner. Scientific World Journal. 2000; 1: 202-3.
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.
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.
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.
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.
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.
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. Human Genetics. 2002; 110:527-31.
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.
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.
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.
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.
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.
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.
Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The Molecular Genetics of Usher syndrome. Review article, Clinical Genetics. 2003; 63: 431-444.
Friedman TB, Schultz JM, Yosef TB, Pryor SP, Lagaziel 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 and Hearing. 2003; 24:289-302.
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.
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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. *co-first authors.
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.
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.
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.
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.
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.
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
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.
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
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.
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.
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.
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.
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.
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.
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.
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.
Ahmed ZM, Frolenkov GI, Riazuddin S. Usher proteins in inner ear structure and function. Physiol Genomics.2013; 45:987-989.
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.
Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Research. 2014;27:11-18.
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.
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.
Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM. Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. European Journal of Human Genetics. 2015; 23:473-80.
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Hinnant J1, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics 2015; 9:1207-1215
Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S, Riazuddin S*. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Human Genetics. 2015; 134:423-27
Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hu?ková M, S?rová M, Šafka-Bro?ková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi ?, Gašperíková D. MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin. PLoS One. 2015; 10(4):e0124232.
Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AMM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wikj E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JBGM, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H. Novel and recurrent CIB2 mutations, associated with non-syndromic deafness, do not affect calcium buffering and localization in hair cells. European Journal of Human Genetics.2015.
Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A, Abbe I, Giese AP, Allen EK, Smith JD, Li B, Paz EMCL, Garcia MC,Llanes EGDV, Labra PJ, Gloria-Cruz TLI, Chan AL, Wang GT, Daly KA, UWCMG, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM, Chonmaitree T, Ahmed ZM, Abes GT, Leal SM. Rare A2ML1 variants confer susceptibility to Otitis Media. Nature Genetics. 2015; 47(8):917-920
Shahzad M, Campos JS, Tariq N, Serrano CH, Yousaf R, Jiménez-Cervantes C, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F, UWCMG, Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM. Identification and functional characterization of natural human melanocortin 1 receptor (MC1R) mutant alleles in Pakistani population. Pigment Cell Melanoma Research. 2015; 28(6):730-735
Ansar M, Santos-Cortez RLP, Saqib MAN, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Aim-ud-Din M, UWCMG, Smith JD, Riazuddin S, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Ahmed ZM, Ahmad W, Leal SM. Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics.2015; 134(9):941-950.
Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M. Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow B. A novel C-terminal CIB2 mutation associated with non-syndromic hearing loss in a Hispanic family. PLoS One.2015; 10(10):e0133082
Yousaf R, Meng Q, Hufnagel RB, Xia Y, Puligilla C, Ahmed ZM, Riazuddin S*. MAP3K1 function is essential for cyto-architecture of mouse organ of Corti and survival of auditory hair cells. Disease, Models and Mechanisms. 2015; 8(12):1543-53.
Yousaf S, Shahzad M. Kausar T, Sheikh SA, Tariq N, Shabbir AS, UWCMG, Ali M, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM. Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. Pigment Cell Melanoma Reserach.2015
Giese APJ, Guarnaschelli JG, Ward JA, Choo DI, Riazuddin S, Ahmed ZM. Radioprotective effect of Aminothiol PrC-210 on irradiated inner ear of guinea pig. PLoS One. 2015; 10(11):e0143606
Haque K, Pandey AK, Zheng H, Sha S, Riazuddin S, Puligilla C. MEKK4 signaling regulates sensory cell development and function in the mouse inner ear. The Journal of Neuroscience. 2016: 36(4):1347-61.
Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Human Mutation. 2016: 37(10):991-1003.
Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, University of Washington Center for Mendelian Genomics, Ali M, Khan MA, Waryah A, Shaikh R, Riazuddin S, Ahmed ZM. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Scientific Reports. 2017: In press.

Research Interests

Investigating the molecular and genetic basis of hearing loss and deaf-blindness (Usher syndrome), utilizing human and mouse genetics. The studies under investigation are designed to answer the following broad questions: What are the precise mechanisms of various forms of hearing dysfunction? What are the genetic factors that determine hearing sensitivity? How do the pathogenic mutations in disease-causing genes affect the ear and eye structure and function? And which molecules or genetic factors can exacerbate and/or mitigate the effects of disease-causing genes? For these studies, large families segregating inherited deafness are collected. The pedigrees are analyzed by linkage analysis and through various genetic approaches genes essential for hearing process are identified. Mutant mouse models of are developed and evaluated for understanding the function of these genes. Functional analysis of the newly identified genes associated with deafness and deaf-blindness promises new insights into the molecular mechanisms of auditory and vision functions and will facilitate the rational design of therapies for hearing loss and blindness.

In addition to inner ear disorders the lab is also working on neurlogical disorders, in particular intellectual disability using the approach of human and zebrafish genetics.