Deafness in the Genomics Era

Yazar: Shearer, A. Eliot, Hildebrand, Michael S., Sloan, Christina M., Smith, Richard J.H.
Baskı/Yayın Bilgisi 2011

Divergence of Rho residue 43 impacts GEF activity

Yazar: Sloan, Christina M., Quinn, Clancy V., Peters, Justin P., Farley, Janean, Goetzinger, Chris, Wernli, Molly, DeMali, Kris A., Ellerbroek, Shawn M.
Baskı/Yayın Bilgisi 2012

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

Yazar: 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
Yayımlandı Ann Otol Rhinol Laryngol (2015)

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

Yazar: 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
Yayımlandı Ann Otol Rhinol Laryngol (2015)

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

Yazar: 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
Yayımlandı Clin Genet (2015)

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

Yazar: 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
Baskı/Yayın Bilgisi 2014

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

Yazar: 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
Yayımlandı Ann Otol Rhinol Laryngol (2015)

PDZD7 and hearing loss: more than just a modifier

Yazar: 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
Yayımlandı Am J Med Genet A (2015)

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

Yazar: 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
Baskı/Yayın Bilgisi 2009

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

Yazar: 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
Yayımlandı Ann Otol Rhinol Laryngol (2015)

Cordova: Web-based management of genetic variation data

Yazar: 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.
Yayımlandı Bioinformatics (2014)

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

Yazar: 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.
Baskı/Yayın Bilgisi 2013

Audioprofile Surfaces: the 21(st) Century Audiogram

Yazar: 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.
Yayımlandı Ann Otol Rhinol Laryngol (2015)

Advancing Genetic Testing for Deafness with Genomic Technology

Yazar: 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.
Baskı/Yayın Bilgisi 2013