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OCT Intensity of the Region between Outer Retina Band 2 and Band 3 as a Biomarker for Retinal Degeneration and Therapy Zeng, Yong; Gao, Shasha; Li, Yichao; Marangoni, Dario; De Silva, Tharindu; Wong, Wai T.; Chew, Emily Y.; Sun, Xun; Li, Tiansen; Sieving, Paul A.; Qian, Haohua Share Save
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A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis Sin, Tzu-Ni; Kim, Sangbae; Li, Yumei; Wang, Jun; Chen, Rui; Chung, Sook Hyun; Kim, Soohyun; Casanova, Isabel; Park, Sangwan; Smit-McBride, Zeljka; Sun, Ning; Pomerantz, Ori; Roberts, Jeffrey A.; Guan, Bin; Hufnagel, Robert B.; Moshiri, Ala; Thomasy, Sara M.; Sieving, Paul A.; Yiu, Glenn Share Save
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne Share Save
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X-Linked Retinoschisis Novel Clinical Observations and Genetic Spectrum in 340 Patients Hahn, Leo C.; Schooneveld, Mary J. van; Wesseling, Nieneke L.; Florijn, Ralph J.; Brink, Jacoline B. ten; Lissenberg-Witte, Birgit I.; Strubbe, Ine; Meester-Smoor, Magda A.; Thiadens, Alberta A.; Diederen, Roselie M.; van Cauwenbergh, Caroline; de Zaeytijd, Julie; Walraedt, Sophie; de Baere, Elfride; Klaver, Caroline C. W.; Norel, Jeannette Ossewaarde-van; Born, L. Ingeborgh van den; Hoyng, Carel B.; Genderen, Maria M. van; Sieving, Paul A.; Leroy, Bart P.; Bergen, Arthur A.; Boon, Camiel J. F. Share Save
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration Miyagishima, Kiyoharu J.; Sharma, Ruchi; Nimmagadda, Malika; Clore-Gronenborn, Katharina; Qureshy, Zoya; Ortolan, Davide; Bose, Devika; Farnoodian, Mitra; Zhang, Congxiao; Fausey, Andrew; Sergeev, Yuri V.; Abu-Asab, Mones; Jun, Bokkyoo; Do, Khanh V.; Kautzman Guerin, Marie-Audrey; Calandria, Jorgelina; George, Aman; Guan, Bin; Wan, Qin; Sharp, Rachel C.; Cukras, Catherine; Sieving, Paul A.; Hufnagel, Robert B.; Bazan, Nicolas G.; Boesze-Battaglia, Kathleen; Miller, Sheldon; Bharti, Kapil Share Save
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis Biswas, Pooja; Villanueva, Adda L.; Soto-Hermida, Angel; Duncan, Jacque L.; Matsui, Hiroko; Borooah, Shyamanga; Kumarov, Berzhan; Richard, Gabriele; Khan, Shahid Yar; Branham, Kari; Huang, Bonnie; Suk, John; Bakall, Benjamin; Goldberg, Jeffrey L.; Gabriel, Luis; Khan, Naheed W.; Raghavendra, Pongali B.; Zhao, Jason; Devalaraja, Sindhu; Huynh, Andrew; Alapati, Akhila; Zawaydeh, Qais; Weleber, Richard G.; Heckenlively, John R.; Hejtmancik, J. Fielding; Riazuddin, Sheikh; Sieving, Paul A.; Riazuddin, S. Amer; Frazer, Kelly A.; Ayyagari, Radha Share Save
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Hunting for the Adhesion Molecule, Retinoschisin, in Retina using Cemovis Heymann, Bernard; Bleck, Christopher K. E.; Fariss, Robert N.; Smirnov, Alexandr; Winkler, Dennis C.; Vijayasarathy, Camasamudram; Huang, Rick; Dearborn, Altaira D.; Sieving, Paul A.; Steven, Alasdair C. Share Save
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Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy Burkard, Markus; Kohl, Susanne; Kraetzig, Timm; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Ding, Xi-Qin; Mayer, Anja K.; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Kellner, Ulrich; Venturelli, Sascha; Becirovic, Elvir; Issa, Peter Charbel; Koenekoop, Robert K.; Rudolph, Guenther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd; Ruth, Peter Share Save
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery Cukras, Catherine; Wiley, Henry E.; Jeffrey, Brett G.; Sen, H. Nida; Turriff, Amy; Zeng, Yong; Vijayasarathy, Camasamudram; Marangoni, Dario; Ziccardi, Lucia; Kjellstrom, Sten; Park, Tae Kwon; Hiriyanna, Suja; Wright, J. Fraser; Colosi, Peter; Wu, Zhijian; Bush, Ronald A.; Wei, Lisa L.; Sieving, Paul A. Share Save
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa Li, Lin; Jiao, Xiaodong; D'Atri, Ilaria; Ono, Fumihito; Nelson, Ralph; Chan, Chi-Chao; Nakaya, Naoki; Ma, Zhiwei; Ma, Yan; Cai, Xiaoying; Zhang, Longhua; Lin, Siying; Hameed, Abdul; Chioza, Barry A.; Hardy, Holly; Arno, Gavin; Hull, Sarah; Khan, Muhammad Imran; Fasham, James; Harlalka, Gaurav V.; Michaelides, Michel; Moore, Anthony T.; Akdemir, Zeynep Hande Coban; Jhangiani, Shalini; Lupski, James R.; Cremers, Frans P. M.; Qamar, Raheel; Salman, Ahmed; Chilton, John; Self, Jay; Ayyagari, Radha; Kabir, Firoz; Naeem, Muhammad Asif; Ali, Muhammad; Akram, Javed; Sieving, Paul A.; Riazuddin, Sheikh; Baple, Emma L.; Riazuddin, S. Amer; Crosby, Andrew H.; Hejtmancik, J. Fielding Share Save
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