Search Results - "Trager, Edward H"

Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells by Krafchak, Charles M., Pawar, Hemant, Moroi, Sayoko E., Sugar, Alan, Lichter, Paul R., Mackey, David A., Mian, Shahzad, Nairus, Theresa, Elner, Victor, Schteingart, Miriam T., Downs, Catherine A., Kijek, Theresa Guckian, Johnson, Jenae M., Trager, Edward H., Rozsa, Frank W., Ali Mandal, Md Nawajes, Epstein, Michael P., Vollrath, Douglas, Ayyagari, Radha, Boehnke, Michael, Richards, Julia E.

“…Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In…”
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Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease by Abecasis, Gonçalo R., Yashar, Beverly M., Zhao, Yu, Ghiasvand, Noor M., Zareparsi, Sepideh, Branham, Kari E.H., Reddick, Adam C., Trager, Edward H., Yoshida, Shigeo, Bahling, John, Filippova, Elena, Elner, Susan, Johnson, Mark W., Vine, Andrew K., Sieving, Paul A., Jacobson, Samuel G., Richards, Julia E., Swaroop, Anand

“…Age-related macular degeneration (AMD) is a complex multifactorial disease that affects the central region of the retina. AMD is clinically heterogeneous,…”
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Evaluation of an Algorithm for Identifying Ocular Conditions in Electronic Health Record Data by Stein, Joshua D, Rahman, Moshiur, Andrews, Chris, Ehrlich, Joshua R, Kamat, Shivani, Shah, Manjool, Boese, Erin A, Woodward, Maria A, Cowall, Jeff, Trager, Edward H, Narayanaswamy, Prabha, Hanauer, David A

“…For research involving big data, researchers must accurately identify patients with ocular diseases or phenotypes of interest. Reliance on administrative…”
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Madeline 2.0 PDE: a new program for local and web-based pedigree drawing by Trager, Edward H., Khanna, Ritu, Marrs, Adrian, Siden, Lawrence, Branham, Kari E.H., Swaroop, Anand, Richards, Julia E.

“…The Madeline 2.0 Pedigree Drawing Engine (PDE) is a pedigree drawing program for use in linkage and family-based association studies. The program is designed…”
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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa by Friedman, James S., Ray, Joseph W., Waseem, Naushin, Johnson, Kory, Brooks, Matthew J., Hugosson, Therése, Breuer, Debra, Branham, Kari E., Krauth, Daniel S., Bowne, Sara J., Sullivan, Lori S., Ponjavic, Vesna, Gränse, Lotta, Khanna, Ritu, Trager, Edward H., Gieser, Linn M., Hughbanks-Wheaton, Dianna, Cojocaru, Radu I., Ghiasvand, Noor M., Chakarova, Christina F., Abrahamson, Magnus, Göring, Harald H.H., Webster, Andrew R., Birch, David G., Abecasis, Goncalo R., Fann, Yang, Bhattacharya, Shomi S., Daiger, Stephen P., Heckenlively, John R., Andréasson, Sten, Swaroop, Anand

“…Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod…”
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A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 by Shimizu, Satoko, Krafchak, Charles, Fuse, Nobuo, Epstein, Michael P., Schteingart, Miriam T., Sugar, Alan, Eibschitz-Tsimhoni, Maya, Downs, Catherine A., Rozsa, Frank, Trager, Edward H., Reed, David M., Boehnke, Michael, Moroi, Sayoko E., Richards, Julia E.

“…Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to…”
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Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma by Wiggs, Janey L, Yaspan, Brian L, Hauser, Michael A, Kang, Jae H, Allingham, R Rand, Olson, Lana M, Abdrabou, Wael, Fan, Bao J, Wang, Dan Y, Brodeur, Wendy, Budenz, Donald L, Caprioli, Joseph, Crenshaw, Andrew, Crooks, Kristy, Delbono, Elizabeth, Doheny, Kimberly F, Friedman, David S, Gaasterland, Douglas, Gaasterland, Terry, Laurie, Cathy, Lee, Richard K, Lichter, Paul R, Loomis, Stephanie, Liu, Yutao, Medeiros, Felipe A, McCarty, Cathy, Mirel, Daniel, Moroi, Sayoko E, Musch, David C, Realini, Anthony, Rozsa, Frank W, Schuman, Joel S, Scott, Kathleen, Singh, Kuldev, Stein, Joshua D, Trager, Edward H, Vanveldhuisen, Paul, Vollrath, Douglas, Wollstein, Gadi, Yoneyama, Sachiko, Zhang, Kang, Weinreb, Robert N, Ernst, Jason, Kellis, Manolis, Masuda, Tomohiro, Zack, Don, Richards, Julia E, Pericak-Vance, Margaret, Pasquale, Louis R, Haines, Jonathan L

“…Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more…”
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