variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration von 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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Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations von Alahmadi, Badr O, Omari, Amro A, Abalem, Maria Fernanda, Andrews, Chris, Schlegel, Dana, Branham, Kari H, Khan, Naheed W, Fahim, Abigail, Jayasundera, Thiran

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High-Resolution Imaging with Adaptive Optics in Patients with Inherited Retinal Degeneration von Duncan, Jacque L, Zhang, Yuhua, Gandhi, Jarel, Nakanishi, Chiaki, Othman, Mohammad, Branham, Kari E. H, Swaroop, Anand, Roorda, Austin

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

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Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration von 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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Rapid visual field constriction in a patient with retinitis pigmentosa and pituitary adenoma von Al-Hasani, Hayder, Khan, Naheed W., Branham, Kari H., Heckenlively, John R., Sullivan, Stephen E., De Lott, Lindsey B., Fahim, Abigail T.

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Madeline 2.0 PDE: a new program for local and web-based pedigree drawing von Trager, Edward H., Khanna, Ritu, Marrs, Adrian, Siden, Lawrence, Branham, Kari E.H., Swaroop, Anand, Richards, Julia E.

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The Michigan Retinal Degeneration Questionnaire: A Patient-Reported Outcome Instrument for Inherited Retinal Degenerations von Lacy, Gabrielle D., Abalem, Maria Fernanda, Andrews, Chris A., Popova, Lilia T., Santos, Erin P., Yu, Gina, Rakine, Hanan Y., Baig, Natasha, Ehrlich, Joshua R., Fahim, Abigail T., Branham, Kari H., Stelmack, Joan A., Swenor, Bonnielin K., Dagnelie, Gislin, Musch, David C., Jayasundera, K. Thiran

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Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration von Fahim, Abigail T, Bouzia, Zaina, Branham, Kari H, Kumaran, Neruban, Vargas, Mauricio E, Feathers, Kecia L, Perera, N Dayanthi, Young, Kelly, Khan, Naheed W, Heckenlively, John R, Webster, Andrew R, Pennesi, Mark E, Ali, Robin R, Thompson, Debra A, Michaelides, Michel

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Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases von Abuzaitoun, Rebhi O, Branham, Kari H, Lacy, Gabrielle D, Hufnagel, Robert B, Kumar, Meenakshi M, Koskenvuo, Juha W, Tuupanen, Sari, Durham, Todd, Zhao, Peter Y, Abalem, Maria Fernanda, Andrews, Chris A, Schlegel, Dana, Khan, Naheed W, Fahim, Abigail T, Heckenlively, John R, Musch, David C, Jayasundera, K. Thiran

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Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype von SOFAT, Reecha, CASAS, Juan P, KHAN, Jane C, SHAHID, Humma, SWAROOP, Anand, ABECASIS, Gonçalo, BRANHAM, Kari E. H, ZAREPARSI, Sepideh, BERGEN, Arthur A, KLAVER, Caroline Cw, BAAS, Dominique C, KANG ZHANG, WEBSTER, Andrew R, YUHONG CHEN, 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, BIRD, Alan C, JENKINS, Sharon A, PETO, Tune, LATHROP, Mark, LEVEILLARD, Thierry, GORIN, Michael B, WEEKS, Daniel E, CAROLINA ORTUBE, Maria, FERRELL, Robert E, JAKOBSDOTTIR, Johanna, CONLEY, Yvette P, MANN, Samantha S, 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, YATES, John Rw, SMEETH, Liam, FLETCHER, Astrid, HINGORANI, Aroon D, MOORE, Anthony T, SEPP, Tiina, CIPRIANI, Valentina, BUNCE, Catey

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The Michigan Vision-Related Anxiety Questionnaire: A Psychosocial Outcomes Measure for Inherited Retinal Degenerations von Lacy, Gabrielle D., Abalem, Maria Fernanda, Andrews, Chris A., Abuzaitoun, Rebhi, Popova, Lilia T., Santos, Erin P., Yu, Gina, Rakine, Hanan Y., Baig, Natasha, Ehrlich, Joshua R., Fahim, Abigail T., Branham, Kari H., Swenor, Bonnielin K., Lichter, Paul R., Dagnelie, Gislin, Stelmack, Joan A., Musch, David C., Jayasundera, K. Thiran

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Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration von Zareparsi, Sepideh, Buraczynska, Monika, Branham, Kari E.H., Shah, Sapna, Eng, Donna, Li, Mingyao, Pawar, Hemant, Yashar, Beverly M., Moroi, Sayoko E., Lichter, Paul R., Petty, Howard R., Richards, Julia E., Abecasis, Gonçalo R., Elner, Victor M., Swaroop, Anand

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Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease von 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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X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa von Fahim, Abigail T., Sullivan, Lori S., Bowne, Sara J., Jones, Kaylie D., Wheaton, Dianna K.H., Khan, Naheed W., Heckenlively, John R., Jayasundera, K. Thiran, Branham, Kari H., Andrews, Chris A., Othman, Mohammad I., Karoukis, Athanasios J., Birch, David G., Daiger, Stephen P.

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Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes von Moinuddin, Omar, Sathrasala, Sanjana, Jayasundera, K Thiran, Branham, Kari H, Chang, Emmanuel Y, Qian, Cynthia X, Recchia, Franco M, Fahim, Abigail T, Besirli, Cagri G

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RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa von Jayasundera, Thiran, Branham, Kari E. H, Othman, Mohammad, Rhoades, William R, Karoukis, Athanasios J, Khanna, Hemant, Swaroop, Anand, Heckenlively, John R

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Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits von Swaroop, Anand, Branham, Kari EH, Chen, Wei, Abecasis, Goncalo

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Discordant Phenotypes in Fraternal Twins Having an Identical Mutation in Exon ORF15 of the RPGR Gene von Walia, Saloni, Fishman, Gerald A, Swaroop, Anand, Branham, Kari E. H, Lindeman, Martin, Othman, Mohammad, Weleber, Richard G

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Association of Apolipoprotein E Alleles with Susceptibility to Age-Related Macular Degeneration in a Large Cohort from a Single Center von Zareparsi, Sepideh, Reddick, Adam C, Branham, Kari E. H, Moore, Kathryn B, Jessup, Laurie, Thoms, Susan, Smith-Wheelock, Michael, Yashar, Beverly M, Swaroop, Anand

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