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Richard A. Lang, PhD Director of the Visual Systems Group
Director of the Visual Systems Group
Professor, UC Department of Pediatrics
Wnt Ligands in Tumorigenesis; Vascular Regression and Tissue Regeneration; Lens Induction and Morphogenesis
Visit the Lang Lab.
Carpenter AC, Rao S, Wells JM, Campbell K, Lang RA. Generation of mice with a conditional null allele for Wntless. Genesis. 2010 Sep;48(9):554-8.
Pandey RN, Rani R, Yeo EJ, Spencer M, Hu S, Lang RA, Hegde RS. The Eyes Absent phosphatase-transactivator proteins promote proliferation, transformation, migration, and invasion of tumor cells. Oncogene. 2010 Jun 24;29(25):3715-22.
Plageman TF Jr, Chung MI, Lou M, Smith AN, Hildebrand JD, Wallingford JB, Lang RA. Pax6-dependent Shroom3 expression regulates apical constriction during lens placode invagination. Development. 2010 Feb;137(3):405-15.
Smith AN, Radice G, Lang RA. Which FGF ligands are involved in lens induction? Dev Biol. 2010 Jan 15;337(2):195-8.
Chauhan BK, Disanza A, Choi SY, Faber SC, Lou M, Beggs HE, Scita G, Zheng Y, Lang RA. Cdc42- and IRSp53-dependent contractile filopodia tether presumptive lens and retina to coordinate epithelial invagination. Development. 2009 Nov;136(21):3657-67.
Smith AN, Miller LA, Radice G, Ashery-Padan R, Lang RA. Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis. Development. 2009 Sep;136(17):2977-85. Erratum in: Development. 2009 Oct;136(19):3377.
Rao S, Lobov IB, Vallance JE, Tsujikawa K, Shiojima I, Akunuru S, Walsh K, Benjamin LE, Lang RA. Obligatory participation of macrophages in an angiopoietin 2-mediated cell death switch. Development. 2007 Dec;134(24):4449-58.
Song N, Schwab KR, Patterson LT, Yamaguchi T, Lin X, Potter SS, Lang RA. pygopus 2 has a crucial, Wnt pathway-independent function in lens induction. Development. 2007 May;134(10):1873-85.
Schwab KR, Patterson LT, Hartman HA, Song N, Lang RA, Lin X, Potter SS. Pygo1 and Pygo2 roles in Wnt signaling in mammalian kidney development. BMC Biol. 2007 Apr 10;5:15.
Miller LA, Smith AN, Taketo MM, Lang RA. Optic cup and facial patterning defects in ocular ectoderm beta-catenin gain-of-function mice. BMC Dev Biol. 2006 Mar 15;6:14.
Zubair M. Ahmed, PhD
Associate Professor, UC Department of Ophthalmology
Associate Professor, UC Department of Pediatrics
Research fellow: Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, MD, 2003-2009.
Postdoctoral fellow: Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, MD, 2002-2003.
Pre-doctoral fellow: Laboratory of Molecular Genetics, National institute of Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Rockville, MD, 2000-2002.
Riazuddin S, Ahmed ZM, 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. 2011 Feb 9;12:21. 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. 2011 Jan 7;88(1):19-29.
Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC. Usher syndrome: hearing loss with vision loss. Adv Otorhinolaryngol. 2011;70:56-65.
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 of the 2.9 Megabase DFNB79 Locus Identifies Mutations in C9orf75, Encoding TAPERIN, as a Cause of Nonsyndromic Deafness. Am J Hum Genet. 2010 Mar 12;86(3):378-88.
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. 2010;18(1):125-9.
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 HGF3 are associated with nonsyndromic recessive deafness, DFNB39. American J Hum Genet. 2009;85(1):25-39.
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. 2009;76(3):270-5.
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. Available online.
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 are associated with nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 2009;85:1-8.
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. 2009;75:86-91.
Tiffany Cook, PhD
Assistant Professor, UC Department of Pediatrics
Understanding the molecular basis of eye development; differentiation of color photoreceptor subtypes in the Drosophila retina; cell-specific regulation of opsin gene expression; mechanisms of cell-specific transcriptional activation and repression
Differentiation of color photoreceptor subtypes in the Drosophila retina; cell-specific regulation of opsin gene expression; mechanisms of cell-specific transcriptional activation and repression
Visit the Cook Lab.
Xie B, Charlton-Perkins M, McDonald EC, Gebelein B, Cook TA. Senseless functions as a molecular switch for color photoreceptor differentiation in Drosophila. Development. 134:4243-4253, 2007.
Mishra M, Oke A, Lebel C, McDonald EC, Plummer Z, Cook TA, and Zelhof AC. Pph13 and Orthodenticle define a dual regulatory pathway for Drosophila photoreceptor cell morphogenesis and function. Development 137:2895-904, 2010
McDonald EC, Xie B, Workman M, Charlton-Perkins M, Terrell DA, Reischl J, Wimmer E, Gebelein B, Cook TA. Multiple transcriptional regulatory domains within Otd control photoreceptor differentiation. Dev Biol 347:122-32, 2010
Charlton-Perkins M, Cook TA. Building a Fly Eye: Terminal Differentiation Events of the Retina, Corneal Lens, and Pigmented Epithelia. Curr Top Dev Biol 93:129-73, 2010
Cook T, Zelhof A, Mishra M, Nie J. 800 Facets of Retinal Degeneration. Prog Mol Biol Transl Sci 100:331-68, 2011
Charlton-Perkins M, Whitaker SL, Fei Y, Xie B, Li-Kroeger D, Gebelein B, Cook T. Prospero and Pax2 combinatorially control neural cell fate decisions by modulating EGF and Notch-dependent signaling. Neural Dev 6(1):20, 2011.
Charlton-Perkins M, Brown NL, Cook T. Lens in focus: A comparison of lens development in Drosophila and vertebrates. Molec Genet Genom 286(3-4):189-213, 2011.
Terrell D, Xie B, Workman M, Mahato S, Zelhof A, Gebelein B, Cook T. OTX2 and CRX rescue overlapping and photoreceptor-specific functions in the Drosophila eye. Dev Dyn 241(1):215-28, 2012.
Riazuddin S, Belyantseva IA, Giese AP, 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. Nat Genet. 44:1265-71, 2012
Jukam D, Xie B, Rister J, Terrell D, Charlton-Perkins M, Pistillo D, Gebelein B, Desplan C, Cook T. Opposite network-level feedback in the Hippo pathway for growth regulation and post-mitotic neural fate. Science 2013 Aug 29. [Epub ahead of print]
Zelia M. Correa, MD, PhD Attending Ophthalmologist, Division of Pediatric Ophthalmology
is an ocular oncologist and ophthalmic pathologist who has been dedicated to clinical and translational research mainly focusing on uveal melanoma and retinoblastoma. Her primary focuses are development and treatment of metastasis from uveal melanoma, and new advances in management of retinoblastoma.
Attending Ophthalmologist, Division of Pediatric Ophthalmology
Ocular oncology; retinoblastoma and childhood ocular benign and malignant tumors
Ocular oncology; ophthalmic pathology
Dr. Correa has been recognized by her academic achievements and her volunteer service/leadership in the profession of ophthalmology. She has received an achievement award (2010) and the international ophthalmologist education award (2009) from the American Academy of Ophthalmology. Additionally, She has been recognized by two Secretariat Awards also from the American Academy of Ophthalmology and has been the youngest Guest of Honor at their National Meeting in 2009. Here in Cincinnati, she has received the Dean’s Award for Excellence in Education (University of Cincinnati College of Medicine) in 2011.
Undergraduate: Faculdade Riopretense de Filosofia Ciências e Letras, São José do Rio Preto, Brazil.
MD: Faculdade Medicina de Rio Preto, São José do Rio Preto, Brazil, 1989.
Residency: Ophthalmology, Faculdade de Medicina de Marília, Brazil, 1992.
Certification: Ophthalmology, 1992.
Fellowship: Vitreoretinal surgery, Brazil, 1995.
Fellowship: Ocular oncology, Wills Eye Hospital, Philadelphia,PA 1996.
PhD: UNIFESP (Federal university of São Paulo, SP, Brazil), 2003.
Post-doctoral fellowships: Ophthalmic pathology, Wills Eye Institute, Philadelphia, PA, 2005;
Ophthalmic pathology and translational research, McGill University-Montreal, QC, Canada, 2006.
Correa ZM, Augsburger JJ. Sufficiency of FNAB aspirates of posterior uveal melanoma for cytologic versus GEP classification in 159 patients, and relative prognostic significance of these classifications. Graefes Arch Clin Exp Ophthalmol. 2013 Nov 24. [Epub ahead of print].
Augsburger JJ, Corrêa ZM, Trichopoulos N. Prognostic implications of cytopathologic classification of melanocytic uveal tumors evaluated by fine-needle aspiration biopsy. Arq Bras Oftalmol. 2013 Mar-Apr;76(2):72-9.
Onken MD, Worley LA, Char DH, Augsburger JJ, Correa ZM, Nudleman E, Aaberg TM Jr, Altaweel MM, Bardenstein DS, Finger PT, Gallie BL, Harocopos GJ, Hovland PG, McGowan HD, Milman T, Mruthyunjaya P, Simpson ER, Smith ME, Wilson DJ, Wirostko WJ, Harbour JW. Collaborative Ocular Oncology Group Report Number 1: Prospective Validation of a Multi-Gene Prognostic Assay in Uveal Melanoma. Ophthalmology. 2012 Aug;119(8):1596-603.
Simoes CC, Call MK, Correa ZM, Spaulding AG, Augsburger JJ. Clinical and histopathological features and immunoreactivity of human choroidal and ciliary body melanomas as prognostic factors for metastasis and death. Graefes Arch Clin Exp Ophthalmol. 2011;249(12):1795-803.
Augsburger JJ, Correa ZM, Trichopoulos N. Surveillance testing for metastasis from primary uveal melanoma and effect on patient survival. Am J Ophthalmol. 2011 July;152(1):5-9.
Palakurthi NK, Correa ZM, Augsburger JJ, Banerjee RK. Toxicity of a biodegradable microneedle implant loaded with methotrexate as a sustained release device in normal rabbit eye: a pilot study. J Ocul Pharmacol Ther. 2011 Apr;27(2):151-6.
Correa ZM, Marshall JC, Souza Filho JP, Odashiro AN, Burnier Jr MN. Fine needle aspiration biopsy to reestablish cell culture in an animal model of uveal melanoma. Arq Bras Oftalmol. 2009 Jul-Aug;72(4):515-8.
Augsburger JJ, Corrêa ZM, Shaikh AH. Quality of evidence about effectiveness of treatments for metastatic uveal melanoma. Trans Am Ophthalmol Soc. 2008;106:128-35; discussion 135-7.
Augsburger JJ, Corrêa ZM, Trichopoulos N, Shaikh A. Size overlap between benign melanocytic choroidal nevi and choroidal malignant melanomas. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):2823-8.
Augsburger JJ, Corrêa ZM, Schneider S, Yassin RS, Robinson-Smith T, Ehya H, Trichopoulos N. Diagnostic transvitreal fine-needle aspiration biopsy of small melanocytic choroidal tumors in nevus versus melanoma category. Trans Am Ophthalmol Soc. 2002;100:225-32; discussion 232-4.
Development of a chitosan based intraocular implant slow delivery for methotrexate - RPB - research to prevent blindness. Dec 2012 - Jan 2014.
Mary Asbury Chair of Ophthalmic Pathology. Sept 2006 – Current.
Fumika Hamada, PhD
Thermo- and pain sensation in Drosophila
Visit the Hamada Lab.
Tang X, Platt MD, Lagnese CM, Leslie JR, Hamada FN. Temperature integration at the AC thermosensory neurons in Drosophila. The Journal of Neuroscience. In press.
Kaneko H, Head LM, Ling J, Liu Y, Hardin PE, Emery P, Hamada FN. Circadian rhythm of temperature preference and its neural control in Drosophila. Current Biology. 2012 Oct 9;22(19):1851-7.
Sugawara H, Iwabata K, Koshiyama A, Yanai T, Daikuhara Y, Namekawa SH, Hamada FN, Sakaguchi K. Coprinus cinereus Mer3 is required for synaptonemal complex formation during meiosis. Chromosoma. 2009 Feb;118(1):127-39.
Hamada FN, Rosenzweig M, Kang K, Pulver SR, Ghezzi A, Jegla TJ, Garrity PA. An internal thermal sensor controlling temperature preference in Drosophila. Nature. 2008 Jul 10;454(7201):217-20.
Ishii S, Koshiyama A, Hamada FN, Nara TY, Iwabata K, Sakaguchi K, Namekawa SH. Interaction between Lim15/Dmc1 and the homologue of the large subunit of CAF-1: a molecular link between recombination and chromatin assembly during meiosis. FEBS J. 2008 May;275(9):2032-41.
Garcia JL, Navarro IT, Biazzono L, Freire RL, da Silva Guimarães Junior J, Cryssafidis AL, Bugni FM, da Cunha IA, Hamada FN, Dias RC. Protective activity against oocyst shedding in cats vaccinated with crude rhoptry proteins of the Toxoplasma gondii by the intranasal route. Vet Parasitol. 2007 Apr 30;145(3-4):197-206.
Hamada FN, Koshiyama A, Namekawa SH, Ishii S, Iwabata K, Sugawara H, Nara TY, Sakaguchi K, Sawado T. Proliferating cell nuclear antigen (PCNA) interacts with a meiosis-specific RecA homologues, Lim15/Dmc1, but does not stimulate its strand transfer activity. Biochem Biophys Res Commun. 2007 Jan 26;352(4):836-42.
Koshiyama A, Hamada FN, Namekawa SH, Iwabata K, Sugawara H, Sakamoto A, Ishizaki T, Sakaguchi K. Sumoylation of a meiosis-specific RecA homolog, Lim15/Dmc1, via interaction with the small ubiquitin-related modifier (SUMO)-conjugating enzyme Ubc9. FEBS J. 2006 Sep;273(17):4003-12.
Namekawa SH, Iwabata K, Sugawara H, Hamada FN, Koshiyama A, Chiku H, Kamada T, Sakaguchi K. Knockdown of LIM15/DMC1 in the mushroom Coprinus cinereus by double-stranded RNA-mediated gene silencing. Microbiology. 2005 Nov;151(Pt 11):3669-78.
Hamada FN, Park PJ, Gordadze PR, Kuroda MI. Global regulation of X chromosomal genes by the MSL complex in Drosophila melanogaster. Genes Dev. 2005 Oct 1;19(19):2289-94.
Virginia A. Miraldi Utz, MD
is a pediatric ophthalmologist who works closely with faculty within the Ophthalmology and Visual Science Research Department and Department of Human Genetics. Her research interests are in nosology of ophthalmic genetic disorders and syndromes including retinal dystrophies and mitochondrial disorders.
Assistant Professor, UC Department of Ophthalmology
Pediatric eye diseases such as amblyopia, cataracts and strabismus; diagnosis and management of genetic eye disorders and syndromes (retinal dystrophies such as retinitis pigmentosa, Stargardt disease, ocular malformations and mitochondrial disorders); pediatric uveitis and ocular inflammation.
Dr. Virginia Miraldi Utz, MD, FAAP, is an assistant professor of pediatric ophthalmology at the Abrahamson Eye Institute of Cincinnati Children’s Hospital Medical Center. She completed her undergraduate degree in biochemistry and religious studies at The College of Wooster (Wooster, Ohio) and Kanda University (Chiba, Japan). She received her Doctor of Medicine from Case Western Reserve University School of Medicine in Cleveland, Ohio, where she was served as co-president of the Alpha Omega Alpha Society chapter. During her residency at University Hospitals Case Medical Center, she was awarded the Ocular Immunology and Uveitis Foundation Travel Grant for her basic science research in ocular microbiology and immunology and the Humanism in Ophthalmology Award. She completed her fellowship training in pediatric ophthalmology and adult strabismus at the Cleveland Clinic Cole Eye Institute. She recently completed additional clinical training in the field of ocular inflammation and uveitis preceptorship to serve patients with juvenile idiopathic arthritis and related disorders.
Dr. Miraldi Utz specializes in the management of pediatric eye disorders such as amblyopia, strabismus, and pediatric cataracts. She has special clinical and research interests in ocular inflammatory disease and ophthalmic genetic disorders, including ocular malformations and retinal dystrophies. Dr. Miraldi Utz has published multiple research articles in peer-reviewed journals, as well as having contributed abstracts and presentations at a number of professional association meetings. She is a peer reviewer for several journals, including Ophthalmic Genetics, Molecular Vision, and British Journal of Ophthalmology. She is a member of American Association for Pediatric Ophthalmology and Strabismus, American Academy of Ophthalmology, American Uveitis Society, Ophthalmic Genetic Study Club, International Society for Genetic Eye Diseases and Retinoblastoma, and Fellow of the American Academy of Pediatrics.
Medical School: Case Western Reserve University School of Medicine, Cleveland, OH.
Residency: Ophthalmology, University Hospitals Eye Institute Case Medical Center, Case Affiliated Hospitals Residency Program, Cleveland, Ohio.
Fellowship: Pediatric Ophthalmology and Adult Strabismus, Cole Eye Institute, Cleveland Clinic; Cleveland, Ohio.
Preceptorship: Pediatric Uveitis, The Retina Group, Columbus, OH; Cincinnati Eye Institute, Cincinnati, OH.
Board Certification: American Board of Ophthalmology, 2013.
Utz VM, Coussa RG, Marino MJ, Chappelow AV, Pauer GJ, Hagstrom SA, Traboulsi EI. Predictors of Visual Acuity and Genotype-Phenotype Correlates in a Cohort of Patients with Stargardt Disease. Br J Ophthalmol. 2014 Jan 23. Epub ahead of print.
Utz VM, Chappelow AV, Marino MJ, Beight CD, Sturgill-Short GM, Pauer GJ, Crowe S, Hagstrom SA, Traboulsi EI. Identification of Three ABCA4 Sequence Variations Exclusive to African-American Patients in a Cohort of Patients with Stargardt Disease. Am J Ophthalmol. 2013 Dec;156(6):1220-1227.
Utz VM, Beight CD, Marino MJ, Hagstrom SA, Traboulsi EI. Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing Factor Gene PRPF31: Review of Disease Mechanism and Report of Family with a Novel 3-Base Insertion. Ophthalmic Gen. 2013 Dec;34(4):183-8.
Utz VM, Tang J. Ocular Manifestations of Antiphospholipid Syndrome. Br J Ophthalmol. 2011 Apr;95(4):454-9.
Mucci JJ, Utz VM, Galor A, Jeng BH. Recurrence Rates of Herpes Simplex Virus Keratitis in Contact Lens Wearers: Eye Contact Lens. Eye Contact Lens. 2009 Jul;35(4):185-7.
Utz VM, Krueger RR. Management of Irregular Astigmatism Following Rotationally Disoriented Free Cap After LASIK. J Refract Surg. 2008 Apr;24(4):383-91.
Saima Riazuddin, PhD
is focused on molecular and genetic basis of hearing impairment. For these studies, we utilize large human pedigrees and mutant mouse models. Through genetic screening disease causing mutations are identified in human families. To further understand the underlying cause of deafness in human pedigrees, we generate orthologue mouse models. These mouse models are evaluated for structural, physiological and developmental defects of the inner ear.
Assistant Professor, UC Department of Otolaryngology – Head and Neck Surgery
Investigating molecular and genetic basis of hearing loss, utilizing human and mouse genetics to identify novel genes and pathways that underlie inherited human hearing impairment.
Saima Riazuddin, PhD, is head of the Laboratory of Molecular Genetics and assistant professor in the Division of Pediatric Otolaryngology - Head and Neck Surgery at the Cincinnati Children’s Research Foundation. She holds secondary appointments in the Division of Opthalmology at the Cincinnati Children’s Research Foundation and the Departments of Otolaryngology and Ophthalmology at the University of Cincinnati.
Dr. Riazuddin is interested in the molecular and genetic basis of Hearing impairment. She utilizes human and mouse genetics to identify novel genes and pathways that underlie inherited human hearing impairment.
BS: University of the Punjab, Lahore, Pakistan, 1995.
MS: Quaid-i-Azam University, Islamabad, Pakistan, 1998.
PhD: University of the Punjab, Lahore, Pakistan, 2001.
Riazuddin S, Ahmed ZM, 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. 2011 Feb 9;12:21.
Borck G, Ur Rehman A, 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. Am J Hum Genet. 2011 Feb 11;88(2):127-37.
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. 2011 Jan 7;88(1):19-29.
Kitajiri S, 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 3rd, Richardson GP, Griffith AJ, Frolenkov GI, Friedman TB. Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell. 2010 May 28;141(5):786-98.
Hertzano R, Puligilla C, Chan SL, Timothy C, Depireux DA, Ahmed Z, 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 Sep;11(3):407-18.
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, 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 Mar 12;86(3):378-88.
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 RJ, Kohrman DC. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet. 2010 Feb 12;86(2):148-60.
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. Clin Genet. 2009 Sep;76(3):270-5.
Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 2009 Aug;85(2):273-80.
Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman AU, Morell RJ, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Eur J Hum Genet. 2010 Jan;18(1):125-9.
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