USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

by Jaworek, Thomas J., Bhatti, Rashid, Latief, Naureen, Khan, Shaheen N., Riazuddin, Saima, Ahmed, Zubair M
Published 2012

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

by Yousaf, Rizwan, Meng, Qinghang, Hufnagel, Robert B., Xia, Ying, Puligilla, Chandrakala, Ahmed, Zubair M., Riazuddin, Saima
Published 2015

Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig

by Giese, Arnaud P. J., Guarnaschelli, Jess G., Ward, Jonette A., Choo, Daniel I., Riazuddin, Saima, Ahmed, Zubair M.
Published 2015

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

by Waryah, Ali M., Ahmed, Zubair M., Choo, Daniel I., Sisk, Robert A., Binder, Munir A., Shahzad, Mohsin, Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Riazuddin, Saima
Published 2011

An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

by Jaworek, Thomas J., Richard, Elodie M., Ivanova, Anna A., Giese, Arnaud P. J., Choo, Daniel I., Khan, Shaheen N., Riazuddin, Sheikh, Kahn, Richard A., Riazuddin, Saima
Published 2013

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

by Jaworek, Thomas J, Kausar, Tasleem, Bell, Shannon M, Tariq, Nabeela, Maqsood, Muhammad Imran, Sohail, Asma, Ali, Muhmmmad, Iqbal, Furhan, Rasool, Shafqat, Riazuddin, Saima, Shaikh, Rehan S, Ahmed, Zubair M
Published 2012

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

by Bashir, Zil-e-Huma, Latief, Noreen, Belyantseva, Inna A., Iqbal, Farheena, Riazuddin, S. Amer, Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Riazuddin, Saima
Published 2012

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

by Patel, Kunjan, Giese, Arnaud P., Grossheim, J. M., Hegde, Rashima S., Delio, Maria, Samanich, Joy, Riazuddin, Saima, Frolenkov, Gregory I., Cai, Jinlu, Ahmed, Zubair M., Morrow, Bernice E.
Published 2015

Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

by Patel, Kunjan, Giese, Arnaud P., Grossheim, J. M., Hegde, Rashmi S., Delio, Maria, Samanich, Joy, Riazuddin, Saima, Frolenkov, Gregory I., Cai, Jinlu, Ahmed, Zubair M., Morrow, Bernice E.
Published 2015

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

by Ahmed, Zubair M, Cindy Li, Xiaoyan, Powell, Shontell D, Riazuddin, Saima, Young, Terry-Lynn, Ramzan, Khushnooda, Ahmad, Zahoor, Luscombe, Sandra, Dhillon, Kiran, MacLaren, Linda, Ploplis, Barbara, Shotland, Lawrence I, Ives, Elizabeth, Riazuddin, Sheikh, Friedman, Thomas B, Morell, Robert J, Wilcox, Edward R
Published 2004

Mutation of ATF6 causes autosomal recessive achromatopsia

by Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Saqib, Muhammad Arif Nadeem, Zulfiqar, Fareeha, Lee, Kwanghyuk, Ashraf, Naeem Mahmood, Ullah, Ehsan, Wang, Xin, Sajid, Sundus, Khan, Falak Sher, Amin-ud-Din, Muhammad, Smith, Joshua D., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Hameed, Abdul, Riazuddin, Saima, Ahmed, Zubair M., Ahmad, Wasim, Leal, Suzanne M.
Published 2015

MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin

by Mašindová, Ivica, Šoltýsová, Andrea, Varga, Lukáš, Mátyás, Petra, Ficek, Andrej, Hučková, Miloslava, Sůrová, Martina, Šafka-Brožková, Dana, Anwar, Saima, Bene, Judit, Straka, Slavomír, Janicsek, Ingrid, Ahmed, Zubair M., Seeman, Pavel, Melegh, Béla, Profant, Milan, Klimeš, Iwar, Riazuddin, Saima, Kádasi, Ľudevít, Gašperíková, Daniela
Published 2015

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

by Ahmed, Zubair M, Masmoudi, Saber, Kalay, Ersan, Belyantseva, Inna A, Mosrati, Mohamed Ali, Collin, Rob W J, Riazuddin, Saima, Hmani-Aifa, Mounira, Venselaar, Hanka, Kawar, Mayya N, Abdelaziz, Tlili, van der Zwaag, Bert, Khan, Shahid Y, Ayadi, Leila, Riazuddin, S Amer, Morell, Robert J, Griffith, Andrew J, Charfedine, Ilhem, Çaylan, Refik, Oostrik, Jaap, Karaguzel, Ahmet, Ghorbel, Abdelmonem, Riazuddin, Sheikh, Friedman, Thomas B, Ayadi, Hammadi, Kremer, Hannie
Published 2008

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

by Riazuddin, Saima, Belyantseva, Inna A., Giese, Arnaud, Lee, Kwanghyuk, Indzhykulian, Artur A., Nandamuri, Sri Pratima, Yousaf, Rizwan, Sinha, Ghanshyam P., Lee, Sue, Terrell, David, Hegde, Rashmi S., Ali, Rana A., Anwar, Saima, Andrade-Elizondo, Paula B., Sirmaci, Asli, Parise, Leslie V., Basit, Sulman, Wali, Abdul, Ayub, Muhammad, Ansar, Muhammad, Ahmad, Wasim, Khan, Shaheen N., Akram, Javed, Tekin, Mustafa, Riazuddin, Sheikh, Cook, Tiffany, Buschbeck, Elke K., Frolenkov, Gregory I., Leal, Suzanne M., Friedman, Thomas B., Ahmed, Zubair M.
Published 2012

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

by Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Published 2015

Rare A2ML1 variants confer susceptibility to otitis media

by Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Reyes-Quintos, Ma. Rina T., Tantoco, Ma. Leah C., Wang, Xin, Acharya, Anushree, Abbe, Izoduwa, Giese, Arnaud P., Smith, Joshua D., Allen, E. Kaitlynn, Li, Biao, Cutiongco-de la Paz, Eva Maria, Garcia, Marieflor Cristy, Llanes, Erasmo Gonzalo D.V., Labra, Patrick John, Gloria-Cruz, Teresa Luisa I., Chan, Abner L., Wang, Gao T., Daly, Kathleen A., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Patel, Janak A., Riazuddin, Saima, Sale, Michele M., Chonmaitree, Tasnee, Ahmed, Zubair M., Abes, Generoso T., Leal, Suzanne M.
Published 2015

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

by Simon, Mariella, Richard, Elodie M., Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H., Qaiser, Tanveer A., Potluri, Prasanth, Mahl, Sarah E., Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-sheqaih, Nada, Newman, William G., Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N., Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B., Wu, Doris K., Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C., Ahmed, Zubair M., Huang, Taosheng, Riazuddin, Saima
Published 2015