Primary congenital and developmental glaucomas

ανά Lewis, Carly J., Hedberg-Buenz, Adam, DeLuca, Adam P., Stone, Edwin M., Alward, Wallace L.M., Fingert, John H.
Τόπος έκδοσης Hum Mol Genet (2017)

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

ανά Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H.
Έκδοση 2010

Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye

ανά Weihbrecht, Katie, Goar, Wesley A., Pak, Thomas, Garrison, Janelle E., DeLuca, Adam P., Stone, Edwin M., Scheetz, Todd E., Sheffield, Val C.
Τόπος έκδοσης Med Res Arch (2017)

Spectacle: an interactive resource for ocular single-cell RNA sequencing data analysis

ανά Voigt, Andrew P., Whitmore, S. Scott, Lessing, Nicholas D., DeLuca, Adam P., Tucker, Budd A., Stone, Edwin M., Mullins, Robert F., Scheetz, Todd E.
Τόπος έκδοσης Exp Eye Res (2020)

Prioritization of Retinal Disease Genes: An Integrative Approach

ανά Wagner, Alex H., Taylor, Kyle R., DeLuca, Adam P., Casavant, Thomas L., Mullins, Robert F., Stone, Edwin M., Scheetz, Todd E., Braun, Terry A.
Τόπος έκδοσης Hum Mutat (2013)

Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations

ανά Voigt, Andrew P., Binkley, Elaine, Flamme-Wiese, Miles J., Zeng, Shemin, DeLuca, Adam P., Scheetz, Todd E., Tucker, Budd A., Mullins, Robert F., Stone, Edwin M.
Τόπος έκδοσης Cells (2020)

Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease

ανά Whitmore, S. Scott, Fortenbach, Christopher R., Cheng, Justine L., DeLuca, Adam P., Critser, D. Brice, Geary, Elizabeth L., Hoffmann, Jeremy M., Stone, Edwin M., Han, Ian C.
Τόπος έκδοσης Sci Rep (2020)

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

ανά Tucker, Budd A., Scheetz, Todd E., Mullins, Robert F., DeLuca, Adam P., Hoffmann, Jeremy M., Johnston, Rebecca M., Jacobson, Samuel G., Sheffield, Val C., Stone, Edwin M.
Έκδοση 2011

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

ανά Whitmore, S. Scott, Wagner, Alex H., DeLuca, Adam P., Drack, Arlene V., Stone, Edwin M., Tucker, Budd A., Zeng, Shemin, Braun, Terry A., Mullins, Robert F., Scheetz, Todd E.
Τόπος έκδοσης Exp Eye Res (2014)

Genomic organization of TBK1 copy number variations in glaucoma patients

ανά DeLuca, Adam P., Alward, Wallace, L.M., Liebmann, Jeffrey, Ritch, Robert, Kawase, Kazuhide, Kwon, Young H., Robin, Alan L., Stone, Edwin M., Scheetz, Todd E., Fingert, John H.
Τόπος έκδοσης J Glaucoma (2017)

A Targeted Sequencing Study of Glutamatergic Candidate Genes in Suicide Attempters with Bipolar Disorder

ανά Gaynor, Sophia C., Breen, Marie E., Monson, Eric T., de Klerk, Kelly, Parsons, Meredith, DeLuca, Adam P., Scheetz, Todd E., Zandi, Peter P., Potash, James B., Willour, Virginia L.
Τόπος έκδοσης Am J Med Genet B Neuropsychiatr Genet (2016)

SQSTM1 Mutations and Glaucoma

ανά Scheetz, Todd E., Roos, Ben R., Solivan-Timpe, Frances, Miller, Kathy, DeLuca, Adam P., Stone, Edwin M., Kwon, Young H., Alward, Wallace L. M., Wang, Kai, Fingert, John H.
Τόπος έκδοσης PLoS One (2016)

Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder

ανά Breen, Marie E., Gaynor, Sophia C., Monson, Eric T., de Klerk, Kelly, Parsons, Meredith G., Braun, Terry A., DeLuca, Adam P., Zandi, Peter P., Potash, James B., Willour, Virginia L.
Τόπος έκδοσης PLoS One (2016)

AudioGene Audioprofiling: A Machine-based Candidate Gene Prediction Tool for Autosomal Dominant Non-syndromic Hearing Loss

ανά Hildebrand, Michael S., DeLuca, Adam P., Taylor, Kyle R., Hoskinson, David P., Hur, In Ae, Tack, Dylan, McMordie, Sarah J., Huygen, Patrick L.M., Casavant, Thomas L., Smith, Richard J.H.
Έκδοση 2009

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness

ανά Eppsteiner, Robert W., Shearer, A. Eliot, Hildebrand, Michael S., Taylor, Kyle R., DeLuca, Adam P., Scherer, Steve, Huygen, Patrick, Scheetz, Todd E., Braun, Terry A., Casavant, Thomas L., Smith, Richard J. H.
Έκδοση 2012

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

ανά Stone, Edwin M., Andorf, Jeaneen L., Whitmore, S. Scott, DeLuca, Adam P., Giacalone, Joseph C., Streb, Luan M., Braun, Terry A., Mullins, Robert F., Scheetz, Todd E., Sheffield, Val C., Tucker, Budd A.
Τόπος έκδοσης Ophthalmology (2017)

cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness

ανά Wiley, Luke A., Burnight, Erin R., DeLuca, Adam P., Anfinson, Kristin R., Cranston, Cathryn M., Kaalberg, Emily E., Penticoff, Jessica A., Affatigato, Louisa M., Mullins, Robert F., Stone, Edwin M., Tucker, Budd A.
Τόπος έκδοσης Sci Rep (2016)

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

ανά Zheng, Jing, Miller, Katharine K., Yang, Tao, Hildebrand, Michael S., Shearer, A. Eliot, DeLuca, Adam P., Scheetz, Todd E., Drummond, Jennifer, Scherer, Steve E., Legan, P. Kevin, Goodyear, Richard J., Richardson, Guy P., Cheatham, Mary Ann, Smith, Richard J., Dallos, Peter
Έκδοση 2011

Cordova: Web-based management of genetic variation data

ανά 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.
Τόπος έκδοσης Bioinformatics (2014)

Prediction of Cochlear Implant Performance by Genetic Mutation: The Spiral Ganglion Hypothesis

ανά Eppsteiner, Robert W., Shearer, A. Eliot, Hildebrand, Michael S., DeLuca, Adam P., Ji, Haihong, Dunn, Camille C., Black-Ziegelbein, Elizabeth A., Casavant, Thomas L., Braun, Terry A., Scheetz, Todd E., Scherer, Steven E., Hansen, Marlan R., Gantz, Bruce J., Smith, Richard J.H.
Έκδοση 2012