Deafness in the Genomics Era

por Shearer, A. Eliot, Hildebrand, Michael S., Sloan, Christina M., Smith, Richard J.H.
Publicado em 2011

Divergence of Rho residue 43 impacts GEF activity

por Sloan, Christina M., Quinn, Clancy V., Peters, Justin P., Farley, Janean, Goetzinger, Chris, Wernli, Molly, DeMali, Kris A., Ellerbroek, Shawn M.
Publicado em 2012

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

por Moteki, Hideaki, Shearer, A Eliot, Izumi, Shuji, Kubota, Yamato, Azaiez, Hela, Booth, Kevin T, Sloan, Christina M, Kolbe, Diana L, Smith, Richard JH, Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

por Moteki, Hideaki, Yoshimura, Hidekane, Azaiez, Hela, Booth, Kevin T., Shearer, A Eliot, Sloan, Christina M., Kolbe, Diana L., Murata, Toshinori, Smith, Richard J. H., Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

por Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Shearer, A Eliot, Sloan, Christina M, Kolbe, Diana L, Nishio, Shin-ya, Hattori, Mitsuru, Usami, Shin-ichi, Smith, Richard J H
Publicado no Clin Genet (2015)

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 em 2014

Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation

por Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Hattori, Mitsuru, Sato, Ai, Sato, Yoshihiko, Motobayashi, Mitsuo, Sloan, Christina M, Kolbe, Diana L, Shearer, A Eliot, Smith, Richard J H, Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

PDZD7 and hearing loss: more than just a modifier

por Booth, Kevin T, Azaiez, Hela, Kahrizi, Kimia, Simpson, Allen C, Tollefson, William TA, Sloan, Christina M, Meyer, Nicole C, Babanejad, Mojgan, Ardalani, Fariba, Arzhangi, Sanaz, Schnieders, Michael J, Najmabadi, Hossein, Smith, Richard JH
Publicado no Am J Med Genet A (2015)

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

por Carroll, Joseph, Baraas, Rigmor C., Wagner-Schuman, Melissa, Rha, Jungtae, Siebe, Cory A., Sloan, Christina, Tait, Diane M., Thompson, Summer, Morgan, Jessica I. W., Neitz, Jay, Williams, David R., Foster, David H., Neitz, Maureen
Publicado em 2009

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

por Sakuma, Naoko, Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Takahashi, Masahiro, Arai, Yasuhiro, Shearer, A Eliot, Sloan, Christina M, Nishio, Shin-ya, Kolbe, Diana L, Iwasaki, Satoshi, Oridate, Nobuhiko, Smith, Richard J H, Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

Cordova: Web-based management of genetic variation data

por Ephraim, Sean S., Anand, Nikhil, DeLuca, Adam P., Taylor, Kyle R., Kolbe, Diana L., Simpson, Allen C., Azaiez, Hela, Sloan, Christina M., Shearer, A. Eliot, Hallier, Andrea R., Casavant, Thomas L., Scheetz, Todd E., Smith, Richard J. H., Braun, Terry A.
Publicado no Bioinformatics (2014)

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

por Taylor, Kyle R., DeLuca, Adam P., Shearer, A. Eliot, Hildebrand, Michael S., Black-Ziegelbein, E. Ann, Anand, V. Nikhil, Sloan, Christina M., Eppsteiner, Robert W., Scheetz, Todd E., Huygen, Patrick L. M., Smith, Richard J. H., Braun, Terry A., Casavant, Thomas L.
Publicado em 2013

Audioprofile Surfaces: the 21(st) Century Audiogram

por Taylor, Kyle R., Booth, Kevin T., Azaiez, Hela, Sloan, Christina M., Kolbe, Diana L., Glanz, Emily N., Shearer, A. Eliot, DeLuca, Adam P., Anand, V. Nikhil, Hildebrand, Michael S., Simpson, Allen C., Eppsteiner, Robert W., Scheetz, Todd E., Braun, Terry A., Huygen, Patrick L. M., Smith, Richard J. H., Casavant, Thomas L.
Publicado no Ann Otol Rhinol Laryngol (2015)

Advancing Genetic Testing for Deafness with Genomic Technology

por Shearer, A. Eliot, Black-Ziegelbein, E. Ann, Hildebrand, Michael S., Eppsteiner, Robert W., Ravi, Harini, Joshi, Swati, Guiffre, Angelica C., Sloan, Christina M., Happe, Scott, Howard, Susanna D., Novak, Barbara, DeLuca, Adam P., Taylor, Kyle R., Scheetz, Todd E., Braun, Terry A., Casavant, Thomas L., Kimberling, William J., LeProust, Emily M., Smith, Richard J.H.
Publicado em 2013