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

Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells

by Indzhykulian, Artur A., Stepanyan, Ruben, Nelina, Anastasiia, Spinelli, Kateri J., Ahmed, Zubair M., Belyantseva, Inna A., Friedman, Thomas B., Barr-Gillespie, Peter G., Frolenkov, Gregory I.
Published 2013

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

Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear

by Drummond, Meghan C., Barzik, Melanie, Bird, Jonathan E., Zhang, Duan-Sun, Lechene, Claude P., Corey, David P., Cunningham, Lisa L., Friedman, Thomas B.
Published 2015

The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing

by Fang, Qing, Indzhykulian, Artur A, Mustapha, Mirna, Riordan, Gavin P, Dolan, David F, Friedman, Thomas B, Belyantseva, Inna A, Frolenkov, Gregory I, Camper, Sally A, Bird, Jonathan E
Published 2015

Heritability of non-speech auditory processing skills

by Brewer, Carmen C., Zalewski, Christopher K., King, Kelly A., Zobay, Oliver, Riley, Alison, Ferguson, Melanie A., Bird, Jonathan E., McCabe, Margaret M., Hood, Linda J., Drayna, Dennis, Griffith, Andrew J., Morell, Robert J., Friedman, Thomas B., Moore, David R.
Published 2016

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

by Morozko, Eva L., Nishio, Ayako, Ingham, Neil J., Chandra, Rashmi, Fitzgerald, Tracy, Martelletti, Elisa, Borck, Guntram, Wilson, Elizabeth, Riordan, Gavin P., Wangemann, Philine, Forge, Andrew, Steel, Karen P., Liddle, Rodger A., Friedman, Thomas B., Belyantseva, Inna A.
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

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

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