A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

por Shearer, A. Eliot, Shen, Jun, Amr, Sami, Morton, Cynthia C., Smith, Richard J.
Publicado 2019

Correction: A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

por Shearer, A. Eliot, Shen, Jun, Amr, Sami, Morton, Cynthia C., Smith, Richard J.
Publicado 2019

Benign Paroxysmal Positional Vertigo in Children and Adolescents With Concussion

por Wang, Alicia, Zhou, Guangwei, Kawai, Kosuke, O’Brien, Michael, Shearer, A. Eliot, Brodsky, Jacob R.
Publicado 2021

Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss

por Shubina-Oleinik, Olga, Nist-Lund, Carl, French, Courtney, Rockowitz, Shira, Shearer, A. Eliot, Holt, Jeffrey R.
Publicado 2021

Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss

por Wang, Alicia, Shearer, A. Eliot, Zhou, Guang Wei, Kenna, Margaret, Poe, Dennis, Licameli, Greg R., Brodsky, Jacob R.
Publicado 2021

In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function

por Shearer, A. Eliot, Tejani, Viral D., Brown, Carolyn J., Abbas, Paul J., Hansen, Marlan R., Gantz, Bruce J., Smith, Richard J. H.
Publicado 2018

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

por Shearer, A Eliot, Hildebrand, Michael S, Ravi, Harini, Joshi, Swati, Guiffre, Angelica C, Novak, Barbara, Happe, Scott, LeProust, Emily M, Smith, Richard JH
Publicado 2012

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

por Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie
Publicado 2011

Copy number variants are a common cause of non-syndromic hearing loss

por Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H
Publicado 2014

PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

por Redfield, Shelby E., De-la-Torre, Pedro, Zamani, Mina, Khan, Hina, Morris, Tyler, Shariati, Gholamreza, Karimi, Majid, Kenna, Margaret A., Seo, Go Hun, Naz, Sadaf, Galehdari, Hamid, Indzhykulian, Artur A., Shearer, A. Eliot, Vona, Barbara
Publicado 2023

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

por Azaiez, Hela, Booth, Kevin T., Ephraim, Sean S., Crone, Bradley, Black-Ziegelbein, Elizabeth A., Marini, Robert J., Shearer, A. Eliot, Sloan-Heggen, Christina M., Kolbe, Diana, Casavant, Thomas, Schnieders, Michael J., Nishimura, Carla, Braun, Terry, Smith, Richard J.H.
Publicado 2018

HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice

por Azaiez, Hela, Decker, Amanda R., Booth, Kevin T., Simpson, Allen C., Shearer, A. Eliot, Huygen, Patrick L. M., Bu, Fengxiao, Hildebrand, Michael S., Ranum, Paul T., Shibata, Seiji B., Turner, Ann, Zhang, Yuzhou, Kimberling, William J., Cornell, Robert A., Smith, Richard J. H.
Publicado 2015

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

por Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.
Publicado 2016

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

por 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
Publicado 2015