North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
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
Published in Ophthalmology (Rochester, Minn.) (01.01.2016)
Published in Ophthalmology (Rochester, Minn.) (01.01.2016)
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Cell-Matrix Interactions in the Eye: From Cornea to Choroid
Pouw, Andrew E, Greiner, Mark A, Coussa, Razek G, Jiao, Chunhua, Han, Ian C, Skeie, Jessica M, Fingert, John H, Mullins, Robert F, Sohn, Elliott H
Published in Cells (Basel, Switzerland) (20.03.2021)
Published in Cells (Basel, Switzerland) (20.03.2021)
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Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism
Dotson, Aaron D., Fingert, John H., Boese, Erin A.
Published in American journal of ophthalmology case reports (01.06.2024)
Published in American journal of ophthalmology case reports (01.06.2024)
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Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration
Mahajan, Vinit B, Skeie, Jessica M, Bassuk, Alexander G, Fingert, John H, Braun, Terry A, Daggett, Heather T, Folk, James C, Sheffield, Val C, Stone, Edwin M
Published in PLoS genetics (01.10.2012)
Published in PLoS genetics (01.10.2012)
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Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study
Scheetz, Todd E., PhD, Faga, Ben, BS, Ortega, Lizette, BS, Roos, Ben R., BS, Gordon, Mae O., PhD, Kass, Michael A., MD, Wang, Kai, PhD, Fingert, John H., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.12.2016)
Published in Ophthalmology (Rochester, Minn.) (01.12.2016)
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Exome-based investigation of the genetic basis of human pigmentary glaucoma
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
Published in BMC genomics (26.06.2021)
Published in BMC genomics (26.06.2021)
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Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure
Wang, Wan-Heng, McNatt, Loretta G, Pang, Iok-Hou, Millar, J Cameron, Hellberg, Peggy E, Hellberg, Mark H, Steely, H Thomas, Rubin, Jeffrey S, Fingert, John H, Sheffield, Val C, Stone, Edwin M, Clark, Abbot F
Published in The Journal of clinical investigation (01.03.2008)
Published in The Journal of clinical investigation (01.03.2008)
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Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes
Laville, Vincent, Kang, Jae H., Cousins, Clara C., Iglesias, Adriana I., Nagy, Réka, Cooke Bailey, Jessica N., Igo, Robert P., Song, Yeunjoo E., Chasman, Daniel I., Christen, William G., Kraft, Peter, Rosner, Bernard A., Hu, Frank, Wilson, James F., Gharahkhani, Puya, Hewitt, Alex W., Mackey, David A., Hysi, Pirro G., Hammond, Christopher J., vanDuijn, Cornelia M., Haines, Jonathan L., Vitart, Veronique, Fingert, John H., Hauser, Michael A., Aschard, Hugues, Wiggs, Janey L., Khawaja, Anthony P., MacGregor, Stuart, Pasquale, Louis R.
Published in American journal of ophthalmology (01.10.2019)
Published in American journal of ophthalmology (01.10.2019)
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Confirmation of TBK1 duplication in normal tension glaucoma
Kawase, Kazuhide, Allingham, R. Rand, Meguro, Akira, Mizuki, Nobuhisa, Roos, Ben, Solivan-Timpe, Frances M., Robin, Alan L., Ritch, Robert, Fingert, John H.
Published in Experimental eye research (01.03.2012)
Published in Experimental eye research (01.03.2012)
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Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
Hagedorn, Joshua, Avdic, Armin, Schnieders, Michael J, Roos, Benjamin R, Kwon, Young H, Drack, Arlene V, Boese, Erin A, Fingert, John H
Published in BMC ophthalmology (01.10.2020)
Published in BMC ophthalmology (01.10.2020)
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Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology
Hwang, Eileen S, Morgan, Denise J, Pennington, Katie L, Owen, Leah A, Fingert, John H, Bernstein, Paul S, DeAngelis, Margaret M
Published in BMC medical genetics (27.04.2019)
Published in BMC medical genetics (27.04.2019)
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SQSTM1 Mutations and Glaucoma
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
Published in PloS one (08.06.2016)
Published in PloS one (08.06.2016)
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A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci
Scheetz, Todd E, Fingert, John H, Wang, Kai, Kuehn, Markus H, Knudtson, Kevin L, Alward, Wallace L M, Boldt, H Culver, Russell, Stephen R, Folk, James C, Casavant, Thomas L, Braun, Terry A, Clark, Abbot F, Stone, Edwin M, Sheffield, Val C
Published in PloS one (11.03.2013)
Published in PloS one (11.03.2013)
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Analysis of ASB10 variants in open angle glaucoma
FINGERT, John H, ROOS, Ben R, SOLIVAN-TIMPE, Frances, MILLER, Kathy A, OETTING, Thomas A, KAI WANG, KWON, Young H, SCHEETZ, Todd E, STONE, Edwin M, ALWARD, Wallace L. M
Published in Human molecular genetics (15.10.2012)
Published in Human molecular genetics (15.10.2012)
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Genetic Association between MMP9 and Choroidal Neovascularization in Age-Related Macular Degeneration
Sohn, Elliott H., Han, Ian C., Roos, Benjamin R., Faga, Benjamin, Luse, Meagan A., Binkley, Elaine M., Boldt, H. Culver, Folk, James C., Russell, Stephen R., Mullins, Robert F., Fingert, John H., Stone, Edwin M., Scheetz, Todd E.
Published in Ophthalmology science (Online) (01.03.2021)
Published in Ophthalmology science (Online) (01.03.2021)
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Copy number variations and primary open-angle glaucoma
Davis, Lea K, Meyer, Kacie J, Schindler, Emily I, Beck, John S, Rudd, Danielle S, Grundstad, A Jason, Scheetz, Todd E, Braun, Terry A, Fingert, John H, Alward, Wallace L M, Kwon, Young H, Folk, James C, Russell, Stephen R, Wassink, Thomas H, Sheffield, Val C, Stone, Edwin M
Published in Investigative ophthalmology & visual science (2011)
Published in Investigative ophthalmology & visual science (2011)
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