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The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 904 - 913
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 09/2018, Volume 193, pp. 114 - 129
To determine the change in vision and retinal structure in patients with the common c.2299delG mutation in the gene in anticipation of clinical trials of... 
GENE | OPTICAL COHERENCE TOMOGRAPHY | USHER-SYNDROME | RETINAL FUNCTION | FUNDUS AUTOFLUORESCENCE | DISEASE COURSE | OPHTHALMOLOGY | NATURAL COURSE | RETINITIS-PIGMENTOSA | VISUAL-FIELD LOSS | PROGRESSION | Clinical trials | Fluorescence | Medical colleges | Cataracts | Medical imaging | Photoreceptors | Mutation | Ophthalmology | Patients | Age
Journal Article
Nature Medicine, ISSN 1078-8956, 02/2019, Volume 25, Issue 2, pp. 225 - 228
Journal Article
by Schönbach, Etienne M and Schönbach, Etienne and Strauss, Rupert W and Kong, Xiangrong and Muñoz, Beatriz and Ibrahim, Mohamed A and Sunness, Janet S and Birch, David and Birch, David G and Hahn, Gesa Astrid and Hahn, Gesa-Astrid and Nasser, Fadi and Zrenner, Eberhart and Sadda, Srinivas and Sadda, SriniVas R and West, Sheila K and West, Sheila and Scholl, Hendrik P.N and Wolfson, Yulia and Bittencourt, Millena and Shah, Syed Mahmood and Ahmed, Mohamed and Fujinami, Kaoru and Traboulsi, Elias and Ehlers, Justis and Marino, Meghan and Crowe, Susan and Briggs, Rachael and Borer, Angela and Pinter, Anne and Fecko, Tami and Burgnoni, Nikki and Applegate, Carol and Russell, Leslie and Michaelides, Michel and Esposti, Simona Degli and Moore, Anthony and Webster, Andrew and Connor, Sophie and Barnfield, Jade and Salchi, Zaid and Alfageme, Clara and McCudden, Victoria and Pefkianaki, Maria and Aboshiha, Jonathan and Liew, Gerald and Holder, Graham and Robson, Anthony and King, Alexa and Narvaez, Daniela Ivanova Cajas and Barnard, Katy and Grigg, Catherine and Dunbar, Hannah and Obadeyi, Yetunde and Girard-Claudon, Karine and Swann, Hilary and Rughani, Avani and Amoah, Charles and Carrington, Dominic and Bibi, Kanom and Co, Emerson Ting and Illiyas, Mohamed Nafaz and Begum, Hamida and Carter, Andrew and Georgiou, Anne and Lewism, Selma and Shaheen, Saddaf and Shinmar, Harpreet and Burton, Linda and Bernstein, Paul and Wegner, Kimberley and Sawyer, Briana Lauren and Carlstrom, Bonnie and Farnsworth, Kellian and Fry, Cyrie and Chandler, Melissa and Jenkins, Dennis and Jenkins, Glen and Creel, Donnel and Wang, Yi-Zhong and Rodriguez, Luis and Locke, Kirsten and Klein, Martin and Mejia, Paulina and Cideciyan, Artur V and Jacobson, Samuel G and Schwartz, Sharon B and Matsui, Rodrigo and Gruzensky, Michaela and Charng, Jason and Roman, Alejandro J and Wilhelm, Barbara and Peters, Tobias and Beier, Benjamin and Koenig, Tilman and Kramer, Susanne and Kramer, Brendan and Sahel, José-Alain and Mohand-Said, Saddek and Audo, Isabelle and ... and Progstar Study Grp and ProgStar Study Group
American Journal of Ophthalmology, ISSN 0002-9394, 09/2018, Volume 193, pp. 54 - 61
To investigate the natural history of Stargardt disease (STGD1) using fixation location and fixation stability. Multicenter, international, prospective cohort... 
OPHTHALMOLOGY | ATROPHY SECONDARY | VISUAL-ACUITY LOSS | NATURAL-HISTORY | NIDEK MP-1 | PROGRESSION | FEATURES | Medicine, Experimental | Medical research | Atrophy | Studies | Reading | Disease | Clinical trials | Software | Mutation | Ophthalmology | Patients | Age
Journal Article
Pharmacology and Therapeutics, ISSN 0163-7258, 07/2017, Volume 175, pp. 151 - 177
The retina is an easily accessible out-pouching of the central nervous system (CNS) and thus lends itself to being a biomarker of the brain. More specifically,... 
Eye | Brain | Retina | Biomarker | Pharmacology | Disease
Journal Article