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Hotaling, Scott, Wilcox, Edward R, Heckenhauer, Jacqueline, Stewart, Russell J, Frandsen, Paul B
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Published in BMC genomics (16.03.2023)
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Modifier variant of METTL13 suppresses human GAB1-associated profound deafness
Yousaf, Rizwan, Ahmed, Zubair M, Giese, Arnaud Pj, Morell, Robert J, Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R, Riazuddin, Sheikh, Friedman, Thomas B, Riazuddin, Saima
Published in The Journal of clinical investigation (01.04.2018)
Published in The Journal of clinical investigation (01.04.2018)
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Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F
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.
Published in American journal of human genetics (01.07.2001)
Published in American journal of human genetics (01.07.2001)
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Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29
Wilcox, Edward R, Burton, Quianna L, Naz, Sadaf, Riazuddin, Saima, Smith, Tenesha N, Ploplis, Barbara, Belyantseva, Inna, Ben-Yosef, Tamar, Liburd, Nikki A, Morell, Robert J, Kachar, Bechara, Wu, Doris K, Griffith, Andrew J, Riazuddin, Sheikh, Friedman, Thomas B
Published in Cell (12.01.2001)
Published in Cell (12.01.2001)
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Journal Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
DOUCETTE, Lance, MERNER, Nancy D, GREEN, Jane S, WILCOX, Edward R, SHOTLAND, Larry, LI, X. C, LEE, Ming, KING, Mary-Claire, YOUNG, Terry-Lynn, COOKE, Sandra, IVES, Elizabeth, GALUTIRA, Dante, WALSH, Vanessa, WALSH, Tom, MACLAREN, Linda, CATER, Tracey, FERNANDEZ, Bridget
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Journal Article
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
AHMED, Zubair M, SMITH, Tenesha N, FRIEDMAN, Thomas B, WILCOX, Edward R, RIAZUDDIN, Saima, MAKISHIMA, Tomoko, GHOSH, Manju, BOKHARI, Sirosh, MENON, Puthezhath S. N, DESHMUKH, Dilip, GRIFFITH, Andrew J, RIAZUDDIN, Sheikh
Published in Human genetics (01.06.2002)
Published in Human genetics (01.06.2002)
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Targeted amplicon sequencing (TAS): a scalable next-gen approach to multilocus, multitaxa phylogenetics
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
Published in Genome biology and evolution (01.01.2011)
Published in Genome biology and evolution (01.01.2011)
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Journal Article
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15
Ahmed, Zubair M, Goodyear, Richard, Riazuddin, Saima, Lagziel, Ayala, Legan, P. Kevin, Behra, Martine, Burgess, Shawn M, Lilley, Kathryn S, Wilcox, Edward R, Riazuddin, Sheikh, Griffith, Andrew J, Frolenkov, Gregory I, Belyantseva, Inna A, Richardson, Guy P, Friedman, Thomas B
Published in The Journal of neuroscience (28.06.2006)
Published in The Journal of neuroscience (28.06.2006)
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Journal Article
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
Ahmed, Zubair M, Li, Xiaoyan Cindy, 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 in BMC medical genetics (24.09.2004)
Published in BMC medical genetics (24.09.2004)
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A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
RAMZAN, Khushnooda, SHAIKH, Rehan S, AHMAD, Jamil, KHAN, Shaheen N, RIAZUDDIN, Saima, AHMED, Zubair M, FRIEDMAN, Thomas B, WILCOX, Edward R, RIAZUDDIN, Sheikh
Published in Human genetics (01.01.2005)
Published in Human genetics (01.01.2005)
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Journal Article
Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39
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.
Published in American journal of human genetics (10.07.2009)
Published in American journal of human genetics (10.07.2009)
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Journal Article
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
Ahmed, Zubair M., Riazuddin, Saima, Ahmad, Jamil, Bernstein, Steve L., Guo, Yan, Sabar, Muhammad F., Sieving, Paul, Riazuddin, Sheikh, Griffith, Andrew J., Friedman, Thomas B., Belyantseva, Inna A., Wilcox, Edward R.
Published in Human molecular genetics (15.12.2003)
Published in Human molecular genetics (15.12.2003)
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Journal Article
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
Riazuddin, Saima, Nazli, Sabiha, Ahmed, Zubair M, Yang, Yi, Zulfiqar, Fareeha, Shaikh, Rehan S, Zafar, Ahmed U, Khan, Shaheen N, Sabar, Farooq, Javid, Fouzia T, Wilcox, Edward R, Tsilou, Ekaterini, Boger, Erich T, Sellers, James R, Belyantseva, Inna A, Riazuddin, Sheikh, Friedman, Thomas B
Published in Human mutation (01.04.2008)
Published in Human mutation (01.04.2008)
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Journal Article
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration
Ben-Yosef, Tamar, Belyantseva, Inna A., Saunders, Thomas L., Hughes, Elizabeth D., Kawamoto, Kohei, Van Itallie, Christina M., Beyer, Lisa A., Halsey, Kärin, Gardner, Donald J., Wilcox, Edward R., Rasmussen, Julia, Anderson, James M., Dolan, David F., Forge, Andrew, Raphael, Yehoash, Camper, Sally A., Friedman, Thomas B.
Published in Human molecular genetics (15.08.2003)
Published in Human molecular genetics (15.08.2003)
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Journal Article
Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function
Griffith, Andrew J, Kurima, Kiyoto, Peters, Linda M, Yang, Yandan, Riazuddin, Saima, Ahmed, Zubair M, Naz, Sadaf, Arnaud, Deidre, Drury, Stacy, Mo, Jianhong, Makishima, Tomoko, Ghosh, Manju, Menon, P.S.N, Deshmukh, Dilip, Oddoux, Carole, Ostrer, Harry, Khan, Shaheen, Riazuddin, Sheikh, Deininger, Prescott L, Hampton, Lori L, Sullivan, Susan L, Battey, James F, Keats, Bronya J.B, Wilcox, Edward R, Friedman, Thomas B
Published in Nature genetics (01.03.2002)
Published in Nature genetics (01.03.2002)
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Journal Article
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
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.
Published in American journal of human genetics (01.01.2001)
Published in American journal of human genetics (01.01.2001)
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Journal Article
Conference Proceeding
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
Steel, Karen P, Friedman, Thomas B, Avraham, Karen B, Vreugde, Sarah, Marcotti, Walter, Hrabé de Angelis, Martin, Kros, Corné J, Wilcox, Edward R, Fuchs, Helmut, Kurima, Kiyoto, Balling, Rudi, Griffith, Andrew J, Erven, Alexandra
Published in Nature genetics (01.03.2002)
Published in Nature genetics (01.03.2002)
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Journal Article
Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics
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.
Published in Genome biology and evolution (01.01.2011)
Published in Genome biology and evolution (01.01.2011)
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Journal Article
Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37
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.
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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Journal Article
A mutation in PDS causes non-syndromic recessive deafness
Li, Xiaoyan C, Everett, Lorraine A, Lalwani, Anil K, Desmukh, Dilip, Friedman, Thomas B, Green, Eric D, Wilcox, Edward R
Published in Nature genetics (01.03.1998)
Published in Nature genetics (01.03.1998)
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