Search Results - Branham, Kari E.

Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration by Zareparsi, Sepideh , Branham, Kari E. H. , Li, Mingyao , Shah, Sapna , Klein, Robert J. , Ott, Jurg , Hoh, Josephine , Abecasis, Gonçalo R. , Swaroop, Anand 

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A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration by Kanda, Atsuhiro, Chen, Wei, Othman, Mohammad, Branham, Kari E. H., Brooks, Matthew, Khanna, Ritu, He, Shirley, Lyons, Robert, Abecasis, Gonçalo R., Swaroop, Anand

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CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration by Li, Mingyao, Atmaca-Sonmez, Pelin, Othman, Mohammad, Branham, Kari E H, Khanna, Ritu, Wade, Michael S, Li, Yun, Liang, Liming, Zareparsi, Sepideh, Swaroop, Anand, Abecasis, Gonçalo R

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Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa by Churchill, Jennifer D., Bowne, Sara J., Sullivan, Lori S., Lewis, Richard Alan, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Daiger, Stephen P.

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Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration by Jamshidi, Farzad, Place, Emily M., Mehrotra, Sudeep, Navarro-Gomez, Daniel, Maher, Mathew, Branham, Kari E., Valkanas, Elise, Cherry, Timothy J., Lek, Monkol, MacArthur, Daniel, Pierce, Eric A., Bujakowska, Kinga M.

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Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa by Bowne, Sara J., Sullivan, Lori S., Avery, Cheryl E., Sasser, Elizabeth M., Roorda, Austin, Duncan, Jacque L., Wheaton, Dianna H., Birch, David G., Branham, Kari E., Heckenlively, John R., Sieving, Paul A., Daiger, Stephen P.

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Ancestry Estimation and Control of Population Stratification for Sequence-based Association Studies by Wang, Chaolong, Zhan, Xiaowei, Bragg-Gresham, Jennifer, Kang, Hyun Min, Stambolian, Dwight, Chew, Emily Y., Branham, Kari E., Heckenlively, John, Fulton, Robert, Wilson, Richard K., Mardis, Elaine R., Lin, Xihong, Swaroop, Anand, Zöllner, Sebastian, Abecasis, Gonçalo R.

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Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes is Not A Hallmark of Age-Related Macular Degeneration by Oliver, Verity F, Franchina, Maria, Jaffe, Andrew E, Branham, Kari E, Othman, Mohammad, Heckenlively, John R, Swaroop, Anand, Campochiaro, Betsy, Vote, Brendan J, Craig, Jamie E, Saffery, Richard, Mackey, David A, Qian, Jiang, Zack, Donald J, Hewitt, Alex W, Merbs, Shannath L

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Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium by Thompson, Debra A., Ali, Robin R., Banin, Eyal, Branham, Kari E., Flannery, John G., Gamm, David M., Hauswirth, William W., Heckenlively, John R., Iannaccone, Alessandro, Jayasundera, K. Thiran, Khan, Naheed W., Molday, Robert S., Pennesi, Mark E., Reh, Thomas A., Weleber, Richard G., Zacks, David N.

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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

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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States by Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Cadena, Elizabeth L., Heckenlively, John R., Branham, Kari E., Wheaton, Dianna H., Jones, Kaylie D., Ruiz, Richard S., Pennesi, Mark E., Yang, Paul, Davis-Boozer, David, Northrup, Hope, Gurevich, Vsevold V., Chen, Rui, Xu, Mingchu, Li, Yumei, Birch, David G., Daiger, Stephen P.

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Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice by Friedman, James S., Chang, Bo, Krauth, Daniel S., Lopez, Irma, Waseem, Naushin H., Hurd, Ron E., Feathers, Kecia L., Branham, Kari E., Shaw, Manessa, Thomas, George E., Brooks, Matthew J., Liu, Chunqiao, Bakeri, Hirva A., Campos, Maria M., Maubaret, Cecilia, Webster, Andrew R., Rodriguez, Ignacio R., Thompson, Debra A., Bhattacharya, Shomi S., Koenekoop, Robert K., Heckenlively, John R., Swaroop, Anand

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Next-generation genetic testing for retinitis pigmentosa by Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans

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Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome by da Palma, Mariana Matioli, Igelman, Austin D., Ku, Cristy, Burr, Amanda, You, Jia Yue, Place, Emily M., Wang, Nan-Kai, Oh, Jin Kyun, Branham, Kari E., Zhang, Xinxin, Ahn, Jeeyun, Gorin, Michael B., Lam, Byron L., Ronquillo, Cecinio C., Bernstein, Paul S., Nagiel, Aaron, Huckfeldt, Rachel, Cabrera, Michelle T., Kelly, John P., Bakall, Benjamin, Iannaccone, Alessandro, Hufnagel, Robert B., Zein, Wadih M., Koenekoop, Robert K., Birch, David G., Yang, Paul, Fahim, Abigail T., Pennesi, Mark E.

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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy by Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne

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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

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements by Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Beatriz-Buentello-Volante, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui

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Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium by Thompson, Debra A., Iannaccone, Alessandro, Ali, Robin R., Arshavsky, Vadim Y., Audo, Isabelle, Bainbridge, James W. B., Besirli, Cagri G., Birch, David G., Branham, Kari E., Cideciyan, Artur V., Daiger, Steven P., Dalkara, Deniz, Duncan, Jacque L., Fahim, Abigail T., Flannery, John G., Gattegna, Roberto, Heckenlively, John R., Heon, Elise, Jayasundera, K. Thiran, Khan, Naheed W., Klassen, Henry, Leroy, Bart P., Molday, Robert S., Musch, David C., Pennesi, Mark E., Petersen-Jones, Simon M., Pierce, Eric A., Rao, Rajesh C., Reh, Thomas A., Sahel, Jose A., Sharon, Dror, Sieving, Paul A., Strettoi, Enrica, Yang, Paul, Zacks, David N.

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Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype by Sofat, Reecha, Casas, Juan P, Webster, Andrew R, Bird, Alan C, Mann, Samantha S, Yates, John RW, Moore, Anthony T, Sepp, Tiina, Cipriani, Valentina, Bunce, Catey, Khan, Jane C, Shahid, Humma, Swaroop, Anand, Abecasis, Gonçalo, Branham, Kari E H, Zareparsi, Sepideh, Bergen, Arthur A, Klaver, Caroline CW, Baas, Dominique C, Zhang, Kang, Chen, Yuhong, Gibbs, Daniel, Weber, Bernhard H F, Keilhauer, Claudia N, Fritsche, Lars G, Lotery, Andrew, Cree, Angela J, Griffiths, Helen L, Bhattacharya, Shomi S, Chen, Li L, Jenkins, Sharon A, Peto, Tunde, Lathrop, Mark, Leveillard, Thierry, Gorin, Michael B, Weeks, Daniel E, Ortube, Maria Carolina, Ferrell, Robert E, Jakobsdottir, Johanna, Conley, Yvette P, Rahu, Mati, Seland, Johan H, Soubrane, Gisele, Topouzis, Fotis, Vioque, Jesus, Tomazzoli, Laura, Young, Ian, Whittaker, John, Chakravarthy, Usha, de Jong, Paulus T V M, Smeeth, Liam, Fletcher, Astrid, Hingorani, Aroon D

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Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration by Zhan, Xiaowei, Larson, David E., Wang, Chaolong, Koboldt, Daniel C., Sergeev, Yuri V., Fulton, Robert S., Fulton, Lucinda L., Fronick, Catrina C., Branham, Kari E., Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M., Buitendijk, Gabriëlle H.S., Hofman, Albert, van Duijn, Cornelia M., Cipriani, Valentina, Moore, Anthony T., Shahid, Humma, Jiang, Yingda, Conley, Yvette P., Morgan, Denise J., Kim, Ivana K., Johnson, Matthew P., Cantsilieris, Stuart, Richardson, Andrea J., Guymer, Robyn H., Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G., Zhang, Mindy M., Zhang, Kang, Baird, Paul N., Blangero, John, Klein, Michael L., Farrer, Lindsay A., DeAngelis, Margaret M., Weeks, Daniel E., Gorin, Michael B., Yates, John R.W., Klaver, Caroline C.W., Pericak-Vance, Margaret A., Haines, Jonathan L., Weber, Bernhard H.F., Wilson, Richard K., Heckenlively, John R., Chew, Emily Y., Stambolian, Dwight, Mardis, Elaine R., Swaroop, Anand, Abecasis, Goncalo R.

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