Deafness in the Genomics Era

по Shearer, A. Eliot, Hildebrand, Michael S., Sloan, Christina M., Smith, Richard J.H.
Опубликовано 2011

Divergence of Rho residue 43 impacts GEF activity

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

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

по 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
Опубликовано в: Ann Otol Rhinol Laryngol (2015)

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

по 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
Опубликовано в: Ann Otol Rhinol Laryngol (2015)

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

по 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
Опубликовано в: Clin Genet (2015)

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

по 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
Опубликовано 2014

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

по 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
Опубликовано в: Ann Otol Rhinol Laryngol (2015)

PDZD7 and hearing loss: more than just a modifier

по 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
Опубликовано в: Am J Med Genet A (2015)

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

по 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
Опубликовано 2009

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

по 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
Опубликовано в: Ann Otol Rhinol Laryngol (2015)

Cordova: Web-based management of genetic variation data

по 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.
Опубликовано в: Bioinformatics (2014)

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

по 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.
Опубликовано 2013

Audioprofile Surfaces: the 21(st) Century Audiogram

по 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.
Опубликовано в: Ann Otol Rhinol Laryngol (2015)

Advancing Genetic Testing for Deafness with Genomic Technology

по 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.
Опубликовано 2013