Zoekresultaten - DeLuca, Adam P

Primary congenital and developmental glaucomas door Lewis, Carly J., Hedberg-Buenz, Adam, DeLuca, Adam P., Stone, Edwin M., Alward, Wallace L.M., Fingert, John H.

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing door Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H.

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Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye door Weihbrecht, Katie, Goar, Wesley A., Pak, Thomas, Garrison, Janelle E., DeLuca, Adam P., Stone, Edwin M., Scheetz, Todd E., Sheffield, Val C.

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Spectacle: an interactive resource for ocular single-cell RNA sequencing data analysis door Voigt, Andrew P., Whitmore, S. Scott, Lessing, Nicholas D., DeLuca, Adam P., Tucker, Budd A., Stone, Edwin M., Mullins, Robert F., Scheetz, Todd E.

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Prioritization of Retinal Disease Genes: An Integrative Approach door Wagner, Alex H., Taylor, Kyle R., DeLuca, Adam P., Casavant, Thomas L., Mullins, Robert F., Stone, Edwin M., Scheetz, Todd E., Braun, Terry A.

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

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

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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 door 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.

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Label-free microfluidic enrichment of cancer cells from non-cancer cells in ascites door Stone, Nicholas E., Raj, Abhishek, Young, Katherine M., DeLuca, Adam P., Chrit, Fatima Ezahra, Tucker, Budd A., Alexeev, Alexander, McDonald, John, Benigno, Benedict B., Sulchek, Todd

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

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Genomic organization of TBK1 copy number variations in glaucoma patients door 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.

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

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Human photoreceptor cells from different macular subregions have distinct transcriptional profiles door Voigt, Andrew P, Mullin, Nathaniel K, Whitmore, S Scott, DeLuca, Adam P, Burnight, Erin R, Liu, Xiuying, Tucker, Budd A, Scheetz, Todd E, Stone, Edwin M, Mullins, Robert F

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SQSTM1 Mutations and Glaucoma door 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.

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Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder door 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.

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

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Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness door 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.

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

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

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

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