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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Fritsche, Lars G, Igl, Wilmar, Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L, Burdon, Kathryn P, Hebbring, Scott J, Wen, Cindy, Zack, Donald, Souied, Eric, Scholl, Hendrik P N, Bala, Elisa, Lee, Kristine E, Hunter, David J, Sardell, Rebecca J, Cipriani, Valentina, Hoffman, Joshua D, Schick, Tina, Guymer, Robyn H, Johnson, Matthew P, Jiang, Yingda, Buitendijk, Gabriëlle H S, Zhan, Xiaowei, Kwong, Alan M, Brooks, Matthew, Branham, Kari E, Foerster, Johanna R, Souzeau, Emmanuelle, McAllister, Ian L, Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A, Constable, Ian J, Craig, Jamie E, Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, Brandl, Caroline, Morrison, Margaux A, Morgan, Denise J, Park, Kyu Hyung, Farrer, Lindsay A, Li, Mingyao, Curcio, Christine A, Mohand-Saïd, Saddek, Benchaboune, Mustapha, Cree, Angela J, Rennie, Christina A, Goverdhan, Srinivas V, Grunin, Michelle, Campochiaro, Peter, Katsanis, Nicholas, Blanché, Hélène, Igo, Robert P, Truitt, Barbara, Peachey, Neal S, Klein, Ronald, Postel, Eric A, Courtenay, Monique D, Schwartz, Stephen G, Liew, Gerald, Tan, Ava G, Gopinath, Bamini, Merriam, John C, Smith, R Theodore, Shahid, Humma, Moore, Anthony T, McGrath, J Allie, Brantley, Milam A, Agarwal, Anita, Saksens, Nicole T M, de Jong, Eiko K, Cain, Melinda S, Richardson, Andrea J, Martin, Tammy M, Doheny, Kimberly F, Romm, Jane, Hayward, Caroline, Klein, Michael L, Baird, Paul N, Fauser, Sascha, Yates, John R W, Allikmets, Rando, Schaumberg, Debra A, Klein, Barbara E K, Hagstrom, Stephanie A, Lotery, Andrew J, Léveillard, Thierry, Hewitt, Alex W, Swaroop, Anand, Chew, Emily Y, Pericak-Vance, Margaret A, DeAngelis, Margaret, Heid, Iris M
Published in Nature genetics (01.02.2016)
Published in Nature genetics (01.02.2016)
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Journal Article
Genetics of age-related macular degeneration (AMD)
DeAngelis, Margaret M., Owen, Leah A., Morrison, Margaux A., Morgan, Denise J., Li, Mingyao, Shakoor, Akbar, Vitale, Albert, Iyengar, Sudha, Stambolian, Dwight, Kim, Ivana K., Farrer, Lindsay A.
Published in Human molecular genetics (01.08.2017)
Published in Human molecular genetics (01.08.2017)
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Journal Article
Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration: The EYE-RISK Consortium
Acar, İlhan E, Lores-Motta, Laura, Colijn, Johanna M, Meester-Smoor, Magda A, Verzijden, Timo, Cougnard-Gregoire, Audrey, Ajana, Soufiane, Merle, Benedicte M J, de Breuk, Anita, Heesterbeek, Thomas J, van den Akker, Erik, Daha, Mohamed R, Claes, Birte, Pauleikhoff, Daniel, Hense, Hans-Werner, van Duijn, Cornelia M, Fauser, Sascha, Hoyng, Carel B, Delcourt, Cécile, Klaver, Caroline C W, Galesloot, Tessel E, den Hollander, Anneke I
Published in Ophthalmology (Rochester, Minn.) (01.12.2020)
Published in Ophthalmology (Rochester, Minn.) (01.12.2020)
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Journal Article
Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels
Kavanagh, D., Yu, Y., Schramm, E. C., Triebwasser, M., Wagner, E. K., Raychaudhuri, S., Daly, M. J., Atkinson, J. P., Seddon, J. M.
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Journal Article
Metagenomic Sequencing Analysis Identifies Cross-Cohort Gut Microbial Signatures Associated With Age-Related Macular Degeneration
Xue, Wei, Peng, Peiyao, Wen, Xiaofeng, Meng, Huan, Qin, Yali, Deng, Tingting, Guo, Shixin, Chen, Tingting, Li, Xifang, Liang, Juanran, Zhang, Feng, Xie, Zhi, Jin, Ming, Liang, Qiaoxing, Wei, Lai
Published in Investigative ophthalmology & visual science (01.05.2023)
Published in Investigative ophthalmology & visual science (01.05.2023)
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Journal Article
Single-cell RNA sequencing reveals transcriptional changes of human choroidal and retinal pigment epithelium cells during fetal development, in healthy adult and intermediate age-related macular degeneration
Collin, Joseph, Hasoon, Megan S R, Zerti, Darin, Hammadi, Sarah, Dorgau, Birthe, Clarke, Lucy, Steel, David, Hussain, Rafiqul, Coxhead, Jonathan, Lisgo, Steven, Queen, Rachel, Lako, Majlinda
Published in Human molecular genetics (05.05.2023)
Published in Human molecular genetics (05.05.2023)
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Journal Article
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Braun, Terry A., Mullins, Robert F., Wagner, Alex H., Andorf, Jeaneen L., Johnston, Rebecca M., Bakall, Benjamin B., Deluca, Adam P., Fishman, Gerald A., Lam, Byron L., Weleber, Richard G., Cideciyan, Artur V., Jacobson, Samuel G., Sheffield, Val C., Tucker, Budd A., Stone, Edwin M.
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
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Journal Article
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
Fujinami, Kaoru, Zernant, Jana, Chana, Ravinder K., Wright, Genevieve A., Tsunoda, Kazushige, Ozawa, Yoko, Tsubota, Kazuo, Robson, Anthony G., Holder, Graham E., Allikmets, Rando, Michaelides, Michel, Moore, Anthony T.
Published in Ophthalmology (Rochester, Minn.) (01.02.2015)
Published in Ophthalmology (Rochester, Minn.) (01.02.2015)
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Journal Article
Unveiling Statins and Genetics in Age-Related Macular Degeneration: The Coimbra Eye Study—Report 9
Barreto, Patrícia, Farinha, Cláudia, Coimbra, Rita, Cachulo, Maria Luz, Melo, Joana Barbosa, Lechanteur, Yara, Hoyng, Carel B., Cunha-Vaz, José, Silva, Rufino
Published in Investigative ophthalmology & visual science (27.06.2024)
Published in Investigative ophthalmology & visual science (27.06.2024)
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Journal Article
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease
Sangermano, Riccardo, Bax, Nathalie M., Bauwens, Miriam, van den Born, L. Ingeborgh, De Baere, Elfride, Garanto, Alejandro, Collin, Rob W.J., Goercharn-Ramlal, Angelique S.A., den Engelsman-van Dijk, Anke H.A., Rohrschneider, Klaus, Hoyng, Carel B., Cremers, Frans P.M., Albert, Silvia
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
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Journal Article
Complement C3 Variant and the Risk of Age-Related Macular Degeneration
Yates, John R.W, Sepp, Tiina, Matharu, Baljinder K, Khan, Jane C, Thurlby, Deborah A, Shahid, Humma, Clayton, David G, Hayward, Caroline, Morgan, Joanne, Wright, Alan F, Armbrecht, Ana Maria, Dhillon, Baljean, Deary, Ian J, Redmond, Elizabeth, Bird, Alan C, Moore, Anthony T
Published in The New England journal of medicine (09.08.2007)
Published in The New England journal of medicine (09.08.2007)
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Journal Article
Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study
Merle, Bénédicte MJ, Silver, Rachel E, Rosner, Bernard, Seddon, Johanna M
Published in The American journal of clinical nutrition (01.11.2015)
Published in The American journal of clinical nutrition (01.11.2015)
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Journal Article
CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation
Vavvas, Demetrios G., Βάββας, Δημήτριoς Γ., Small, Kent W., Awh, Carl C., Zanke, Brent W., Tibshirani, Robert J., Kustra, Rafal
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.2018)
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Journal Article
Age-Related Macular Degeneration and Extramacular Drusen: Genetic Associations in the Coimbra Eye Study
Farinha, Cláudia, Barreto, Patrícia, Coimbra, Rita, Machado, Maria Beatriz, Figueiredo, Inês, Cachulo, Maria Luz, Cunha-Vaz, José, Silva, Rufino
Published in Investigative ophthalmology & visual science (01.05.2024)
Published in Investigative ophthalmology & visual science (01.05.2024)
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Journal Article
Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort
Hallam, Thomas M., Andreadi, Anneliza, Sharp, Scott J., Brocklebank, Vicky, Gardenal, Emanuela, Dreismann, Anna, Arora, Rashi, Dennis, Marcus, Flaxel, Christina, Hall, Edward, Hoyng, Carel, Charbel Issa, Peter, Leveziel, Nicolas, Molnár, Fanni, Navarro, Rafael, Schneiderman, Todd, Steel, David, Tadayoni, Ramin, Tezel, Tongalp, Weber, Michel, Lotery, Andrew J., Marchbank, Kevin J., Harris, Claire L., Jones, Amy V., Kavanagh, David
Published in The Journal of biological chemistry (01.07.2024)
Published in The Journal of biological chemistry (01.07.2024)
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Journal Article
Clinical Evaluation of Pazopanib Eye Drops versus Ranibizumab Intravitreal Injections in Subjects with Neovascular Age-Related Macular Degeneration
Csaky, Karl G., Dugel, Pravin U., Pierce, Amy J., Fries, Michael A., Kelly, Deborah S., Danis, Ronald P., Wurzelmann, John I., Xu, Chun-Fang, Hossain, Mohammad, Trivedi, Trupti
Published in Ophthalmology (Rochester, Minn.) (01.03.2015)
Published in Ophthalmology (Rochester, Minn.) (01.03.2015)
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Journal Article
Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy
Huchzermeyer, Cord, Fars, Julien, Kremers, Jan, Kühlewein, Laura, Kempf, Melanie, Ott, Saskia, Stingl, Krunoslav, Stingl, Katarina
Published in Investigative ophthalmology & visual science (01.06.2023)
Published in Investigative ophthalmology & visual science (01.06.2023)
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Journal Article
Functional expression of complement factor I following AAV-mediated gene delivery in the retina of mice and human cells
Dreismann, Anna K., McClements, Michelle E., Barnard, Alun R., Orhan, Elise, Hughes, Jane P., Lachmann, Peter J., MacLaren, Robert E.
Published in Gene therapy (01.05.2021)
Published in Gene therapy (01.05.2021)
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Journal Article