OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

Por Yasunaga, Shin'ichiro, Grati, M'hamed, Chardenoux, Sébastien, Smith, Tenesha N., Friedman, Thomas B., Lalwani, Anil K., Wilcox, Edward R., Petit, Christine
Publicado em 2000

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Por Ahmed, Zubair M., Riazuddin, Saima, Bernstein, Steve L., Ahmed, Zahoor, Khan, Shaheen, Griffith, Andrew J., Morell, Robert J., Friedman, Thomas B., Riazuddin, Sheikh, Wilcox, Edward R.
Publicado em 2001

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

Por Yousaf, Rizwan, Ahmed, Zubair M., Giese, Arnaud P.J., Morell, Robert J., Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R., Riazuddin, Sheikh, Friedman, Thomas B., Riazuddin, Saima
Publicado no J Clin Invest (2018)

Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics

Por Bybee, Seth M., Bracken-Grissom, Heather, Haynes, Benjamin D., Hermansen, Russell A., Byers, Robert L., Clement, Mark J., Udall, Joshua A., Wilcox, Edward R., Crandall, Keith A.
Publicado em 2011

Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

Por Naz, Sadaf, Giguere, Chantal M., Kohrman, David C., Mitchem, Kristina L., Riazuddin, Saima, Morell, Robert J., Ramesh, Arabandi, Srisailpathy, Srikumari, Deshmukh, Dilip, Riazuddin, Sheikh, Griffith, Andrew J., Friedman, Thomas B., Smith, Richard J. H., Wilcox, Edward R.
Publicado em 2002

Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

Por Ahmed, Zubair M., Morell, Robert J., Riazuddin, Saima, Gropman, Andrea, Shaukat, Shahzad, Ahmad, Mussaber M., Mohiddin, Saidi A., Fananapazir, Lameh, Caruso, Rafael C., Husnain, Tayyab, Khan, Shaheen N., Riazuddin, Sheikh, Griffith, Andrew J., Friedman, Thomas B., Wilcox, Edward R.
Publicado em 2003

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Por Doucette, Lance, Merner, Nancy D, Cooke, Sandra, Ives, Elizabeth, Galutira, Dante, Walsh, Vanessa, Walsh, Tom, MacLaren, Linda, Cater, Tracey, Fernandez, Bridget, Green, Jane S, Wilcox, Edward R, Shotland, Larry, Li, X C, Lee, Ming, King, Mary-Claire, Young, Terry-Lynn
Publicado em 2009

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Por Doucette, Lance, Merner, Nancy D, Cooke, Sandra, Ives, Elizabeth, Galutira, Dante, Walsh, Vanessa, Walsh, Tom, MacLaren, Linda, Cater, Tracey, Fernandez, Bridget, Green, Jane S, Wilcox, Edward R, Shotland, Larry, Li, X C, Lee, Ming, King, Mary-Claire, Young, Terry-Lynn
Publicado em 2009

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

Por 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
Publicado em 2004

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness

Por Riazuddin, Saima, Khan, Shaheen N., Ahmed, Zubair M., Ghosh, Manju, Caution, Kyle, Nazli, Sabiha, Kabra, Madhulika, Zafar, Ahmad U., Chen, Kevin, Naz, Sadaf, Antonellis, Anthony, Pavan, William J., Green, Eric D., Wilcox, Edward R., Friedman, Penelope L., Morell, Robert J., Riazuddin, Sheikh, Friedman, Thomas B.
Publicado em 2006

Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes

Por Farrer, Lindsay A., Arnos, Kathleen S., Asher, James H., Baldwin, Clinton T., Diehl, Scott R., Friedman, Thomas B., Greenberg, Jacquie, Grundfast, Kenneth M., Hoth, Christopher, Lalwani, Anil K., Landa, Barbara, Leverton, Kate, Milunsky, Aubrey, Morell, Robert, Nance, Walter E., Newton, Valerie, Ramesar, Rajkumar, Rao, Valluri S., Reynolds, Jennifer E., Agustin, Theresa B. San, Wilcox, Edward R., Winship, Ingrid, Read, Andrew P.
Publicado em 1994

Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39

Por Schultz, Julie M., Khan, Shaheen N., Ahmed, Zubair M., Riazuddin, Saima, Waryah, Ali M., Chhatre, Dhananjay, Starost, Matthew F., Ploplis, Barbara, Buckley, Stephanie, Velásquez, David, Kabra, Madhulika, Lee, Kwanghyuk, Hassan, Muhammad J., Ali, Ghazanfar, Ansar, Muhammad, Ghosh, Manju, Wilcox, Edward R., Ahmad, Wasim, Merlino, Glenn, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B., Morell, Robert J.
Publicado em 2009

Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium

Por Farrer, Lindsay A., Grundfast, Kenneth M., Amos, Jean, Arnos, Kathleen S., Asher, James H., Beighton, Peter, Diehl, Scott R., Fex, Jörgen, Foy, Carole, Friedman, Thomas B., Greenberg, Jacquie, Hoth, Christopher, Marazita, Mary, Milunsky, Aubrey, Morell, Robert, Nance, Walter, Newton, Valerie, Ramesar, Rajkumar, Agustin, Theresa B. San, Skare, James, Stevens, Cathy A., Wagner, Ronald G., Wilcox, Edward R., Winship, Ingrid, Read, Andrew P.
Publicado em 1992

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Por Bork, Julie M., Peters, Linda M., Riazuddin, Saima, Bernstein, Steve L., Ahmed, Zubair M., Ness, Seth L., Polomeno, Robert, Ramesh, Arabandi, Schloss, Melvin, Srisailpathy, C. R. Srikumari, Wayne, Sigrid, Bellman, Susan, Desmukh, Dilip, Ahmed, Zahoor, Khan, Shaheen N., Kaloustian, Vazken M. Der, Li, X. Cindy, Lalwani, Anil, Riazuddin, Sheikh, Bitner-Glindzicz, Maria, Nance, Walter E., Liu, Xue-Zhong, Wistow, Graeme, Smith, Richard J. H., Griffith, Andrew J., Wilcox, Edward R., Friedman, Thomas B., Morell, Robert J.
Publicado em 2001