未登录 Longitudinal Imaging of the Parafoveal Cone Mosaic in Congenital Achromatopsia 黄斑旁视锥细胞镶嵌的纵向成像研究先天性全色盲 Chen, Nickolas; Litts, Katie M.; Nikezic, Danica; Langlo, Christopher S.; Higgins, Brian P.; Lam, Byron L.; Fishman, Gerald A.; Collison, Frederick T.; Pennesi, Mark E.; Kay, Christine N.; Tarima, Sergey; Carroll, Joseph 分享 收藏
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Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice Rabiee, Behnam; Anwar, Khandaker N.; Shen, Xiang; Putra, Ilham; Liu, Mingna; Jung, Rebecca; Afsharkhamseh, Neda; Rosenblatt, Mark, I; Fishman, Gerald A.; Liu, Xiaorong; Ghassemi, Mahmood; Djalilian, Ali R. 分享 收藏
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Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene Jacobson, Samuel G.; Cideciyan, Artur V.; Sumaroka, Alexander; Roman, Alejandro J.; Charng, Jason; Lu, Monica; Choi, Windy; Sheplock, Rebecca; Swider, Malgorzata; Kosyk, Mychajlo S.; Schwartz, Sharon B.; Stone, Edwin M.; Fishman, Gerald A. 分享 收藏
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Jacobson, Samuel G.; Cideciyan, Artur V.; Sumaroka, Alexander; Roman, Alejandro J.; Charng, Jason; Lu, Monica; Choudhury, Shreyasi; Schwartz, Sharon B.; Heon, Elise; Fishman, Gerald A.; Boye, Shannon E. 分享 收藏
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Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia Langlo, Christopher S.; Patterson, Emily J.; Higgins, Brian P.; Summerfelt, Phyllis; Razeen, Moataz M.; Erker, Laura R.; Parker, Maria; Collison, Frederick T.; Fishman, Gerald A.; Kay, Christine N.; Zhang, Jing; Weleber, Richard G.; Yang, Paul; Wilson, David J.; Pennesi, Mark E.; Lam, Byron L.; Chiang, John; Chulay, Jeffrey D.; Dubra, Alfredo; Hauswirth, William W.; Carroll, Joseph 分享 收藏
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13 Small, Kent W.; DeLuca, Adam P.; Whitmore, S. Scott; Rosenberg, Thomas; Silva-Garcia, Rosemary; Udar, Nitin; Puech, Bernard; Garcia, Charles A.; Rice, Thomas A.; Fishman, Gerald A.; Heon, Elise; Folk, James C.; Streb, Luan M.; Haas, Christine M.; Wiley, Luke A.; Scheetz, Todd E.; Fingert, John H.; Mullins, Robert F.; Tucker, Budd A.; Stone, Edwin M. 分享 收藏
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Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health Dubis, Adam M.; Cooper, Robert F.; Aboshiha, Jonathan; Langlo, Christopher S.; Sundaram, Venki; Liu, Benjamin; Collison, Frederick; Fishman, Gerald A.; Moore, Anthony T.; Webster, Andrew R.; Dubra, Alfredo; Carroll, Joseph; Michaelides, Michel 分享 收藏
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients Zernant, Jana; Collison, Frederick T.; Lee, Winston; Fishman, Gerald A.; Noupuu, Kalev; Yuan, Bo; Cai, Carolyn; Lupski, James R.; Yannuzzi, Lawrence A.; Tsang, Stephen H.; Allikmets, Rando 分享 收藏
Analysis of the ABCA4 genomic locus in Stargardt disease Zernant, Jana; Xie, Yajing (Angela); Ayuso, Carmen; Riveiro-Alvarez, Rosa; Lopez-Martinez, Miguel-Angel; Simonelli, Francesca; Testa, Francesco; Gorin, Michael B.; Strom, Samuel P.; Bertelsen, Mette; Rosenberg, Thomas; Boone, Philip M.; Yuan, Bo; Ayyagari, Radha; Nagy, Peter L.; Tsang, Stephen H.; Gouras, Peter; Collison, Frederick T.; Lupski, James R.; Fishman, Gerald A.; Allikmets, Rando 分享 收藏
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Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration Ratnapriya, Rinki; Zhan, Xiaowei; Fariss, Robert N.; Branham, Kari E.; Zipprer, David; Chakarova, Christina F.; Sergeev, Yuri V.; Campos, Maria M.; Othman, Mohammad; Friedman, James S.; Maminishkis, Arvydas; Waseem, Naushin H.; Brooks, Matthew; Rajasimha, Harsha K.; Edwards, Albert O.; Lotery, Andrew; Klein, Barbara E.; Truitt, Barbara J.; Li, Bingshan; Schaumberg, Debra A.; Morgan, Denise J.; Morrison, Margaux A.; Souied, Eric; Tsironi, Evangelia E.; Grassmann, Felix; Fishman, Gerald A.; Silvestri, Giuliana; Scholl, Hendrik P. N.; Kim, Ivana K.; Ramke, Jacqueline; Tuo, Jingsheng; Merriam, Joanna E.; Merriam, John C.; Park, Kyu Hyung; Olson, Lana M.; Farrer, Lindsay A.; Johnson, Matthew P.; Peachey, Neal S.; Lathrop, Mark; Baron, Robert V.; Igo, Robert P., Jr.; Klein, Ronald; Hagstrom, Stephanie A.; Kamatani, Yoichiro; Martin, Tammy M.; Jiang, Yingda; Conley, Yvette; Sahel, Jose-Alan; Zack, Donald J.; Chan, Chi-Chao; Pericak-Vance, Margaret A.; Jacobson, Samuel G.; Gorin, Michael B.; Klein, Michael L.; Allikmets, Rando; Iyengar, Sudha K.; Weber, Bernhard H.; Haines, Jonathan L.; Leveillard, Thierry; Deangelis, Margaret M.; Stambolian, Dwight; Weeks, Daniel E.; Bhattacharya, Shomi S.; Chew, Emily Y.; Heckenlively, John R.; Abecasis, Goncalo R.; Swaroop, Anand 分享 收藏