Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration von Voigt, Andrew P., Mulfaul, Kelly, Mullin, Nathaniel K., Flamme-Wiese, Miles J., Giacalone, Joseph C., Stone, Edwin M., Tucker, Budd A., Scheetz, Todd E., Mullins, Robert F.

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Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease von Stone, Edwin M., MD, PhD, Andorf, Jeaneen L., BA, Whitmore, S. Scott, PhD, DeLuca, Adam P., PhD, Giacalone, Joseph C., BS, Streb, Luan M., BA, Braun, Terry A., PhD, Mullins, Robert F., PhD, Scheetz, Todd E., PhD, Sheffield, Val C., MD, PhD, Tucker, Budd A., PhD

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Transplantation of iPSC-TM stimulates division of trabecular meshwork cells in human eyes von Zhu, Wei, Godwin, Cheyanne R., Cheng, Lin, Scheetz, Todd E., Kuehn, Markus H.

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METTL23 Variants and Patients With Normal-Tension Glaucoma von Scheetz, Todd. E, Tollefson, Mallory R, Roos, Ben R, Boese, Erin A, Pouw, Andrew E, Stone, Edwin M, Schnieders, Michael J, Fingert, John H

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The air-liquid interface and use of primary cell cultures are important to recapitulate the transcriptional profile of in vivo airway epithelia von Pezzulo, Alejandro A, Starner, Timothy D, Scheetz, Todd E, Traver, Geri L, Tilley, Ann E, Harvey, Ben-Gary, Crystal, Ronald G, McCray, Jr, Paul B, Zabner, Joseph

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

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Novel molecular and computational methods improve the accuracy of insertion site analysis in Sleeping Beauty-induced tumors von Brett, Benjamin T, Berquam-Vrieze, Katherine E, Nannapaneni, Kishore, Huang, Jian, Scheetz, Todd E, Dupuy, Adam J

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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 von 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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Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants von Shearer, A. Eliot, Eppsteiner, Robert W., Booth, Kevin T., Ephraim, Sean S., Gurrola, José, Simpson, Allen, Black-Ziegelbein, E. Ann, Joshi, Swati, Ravi, Harini, Giuffre, Angelica C., Happe, Scott, Hildebrand, Michael S., Azaiez, Hela, Bayazit, Yildirim A., Erdal, Mehmet Emin, Lopez-Escamez, Jose A., Gazquez, Irene, Tamayo, Marta L., Gelvez, Nancy Y., Leal, Greizy Lopez, Jalas, Chaim, Ekstein, Josef, Yang, Tao, Usami, Shin-ichi, Kahrizi, Kimia, Bazazzadegan, Niloofar, Najmabadi, Hossein, Scheetz, Todd E., Braun, Terry A., Casavant, Thomas L., LeProust, Emily M., Smith, Richard J.H.

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North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13 von Small, Kent W., MD, DeLuca, Adam P., PhD, Whitmore, S. Scott, PhD, Rosenberg, Thomas, MD, Silva-Garcia, Rosemary, MD, Udar, Nitin, PhD, Puech, Bernard, MD, Garcia, Charles A., MD, Rice, Thomas A., MD, Fishman, Gerald A., MD, Héon, Elise, MD, Folk, James C., MD, Streb, Luan M., BA, Haas, Christine M., BA, Wiley, Luke A., PhD, Scheetz, Todd E., PhD, Fingert, John H., MD, PhD, Mullins, Robert F., PhD, Tucker, Budd A., PhD, Stone, Edwin M., MD, PhD

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Axonopathy precedes cell death in ocular damage mediated by blast exposure von Boehme, Nickolas A., Hedberg-Buenz, Adam, Tatro, Nicole, Bielecki, Michael, Castonguay, William C., Scheetz, Todd E., Anderson, Michael G., Dutca, Laura M.

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Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma von Patil, Shruti V., Kaipa, Balasankara Reddy, Ranshing, Sujata, Sundaresan, Yogapriya, Millar, J. Cameron, Nagarajan, Bhavani, Kiehlbauch, Charles, Zhang, Qihong, Jain, Ankur, Searby, Charles C., Scheetz, Todd E., Clark, Abbot F., Sheffield, Val C., Zode, Gulab S.

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Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis von Riordan, Jesse D, Keng, Vincent W, Tschida, Barbara R, Scheetz, Todd E, Bell, Jason B, Podetz-Pedersen, Kelly M, Moser, Catherine D, Copeland, Neal G, Jenkins, Nancy A, Roberts, Lewis R, Largaespada, David A, Dupuy, Adam J

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Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq von 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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Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration von Zeng, Shemin, Whitmore, S Scott, Sohn, Elliott H, Riker, Megan J, Wiley, Luke A, Scheetz, Todd E, Stone, Edwin M, Tucker, Budd A, Mullins, Robert F

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Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11) von Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., Nishimura, Darryl Y., Braun, Terry A., Kim, Kwang-Youn A., Huang, Jian, Elbedour, Khalil, Carmi, Rivka, Slusarski, Diane C., Casavant, Thomas L., Stone, Edwin M., Sheffield, Val C.

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Regulation of Gene Expression in the Mammalian Eye and Its Relevance to Eye Disease von Scheetz, Todd E., Kim, Kwang-Youn A., Swiderski, Ruth E., Philp, Alisdair R., Braun, Terry A., Knudtson, Kevin L., Dorrance, Anne M., DiBona, Gerald F., Huang, Jian, Casavant, Thomas L., Sheffield, Val C., Stone, Edwin M.

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Exome-based investigation of the genetic basis of human pigmentary glaucoma von van der Heide, Carly, Goar, Wes, Meyer, Kacie J, Alward, Wallace L. M, Boese, Erin A, Sears, Nathan C, Roos, Ben R, Kwon, Young H, DeLuca, Adam P, Siggs, Owen M, Gonzaga-Jauregui, Claudia, Sheffield, Val C, Wang, Kai, Stone, Edwin M, Mullins, Robert F, Anderson, Michael G, Fan, Bao Jian, Ritch, Robert, Craig, Jamie E, Wiggs, Janey L, Scheetz, Todd E, Fingert, John H

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Transcriptional patterns in both host and bacterium underlie a daily rhythm of anatomical and metabolic change in a beneficial symbiosis von Wier, Andrew M, Nyholm, Spencer V, Mandel, Mark J, Massengo-Tiassé, R. Prisca, Schaefer, Amy L, Koroleva, Irina, Splinter-BonDurant, Sandra, Brown, Bartley, Manzella, Liliana, Snir, Einat, Almabrazi, Hakeem, Scheetz, Todd E, Bonaldo, Maria de Fatima, Casavant, Thomas L, Soares, M. Bento, Cronan, John E, Reed, Jennifer L, Ruby, Edward G, McFall-Ngai, Margaret J

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A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus) von Kuehn, Markus H, Lipsett, Koren A, Menotti-Raymond, Marilyn, Whitmore, S Scott, Scheetz, Todd E, David, Victor A, O'Brien, Stephen J, Zhao, Zhongyuan, Jens, Jackie K, Snella, Elizabeth M, Ellinwood, N Matthew, McLellan, Gillian J

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