Khor, Chiea Chuen; Do, Tan; Jia, Hongyan; Nakano, Masakazu; George, Ronnie; Abu-Amero, Khaled; Duvesh, Roopam; Chen, Li Jia; Li, Zheng; Nongpiur, Monisha E.; Perera, Shamira A.; Qiao, Chunyan; Wong, Hon-Tym; Sakai, Hiroshi; de Melo, Monica Barbosa; Lee, Mei-Chin; Chan, Anita S.; Azhany, Yaakub; Dao, Thi Lam Huong; Ikeda, Yoko; Perez-Grossmann, Rodolfo A.; Zarnowski, Tomasz; Day, Alexander C.; Jonas, Jost B.; Tam, Pancy O. S.; Tran, Tuan Anh; Ayub, Humaira; Akhtar, Farah; Micheal, Shazia; Chew, Paul T. K.; Aljasim, Leyla A.; Dada, Tanuj; Luu, Tam Thi; Awadalla, Mona S.; Kitnarong, Naris; Wanichwecharungruang, Boonsong; Aung, Yee Yee; Mohamed-Noor, Jelinar; Vijayan, Saravanan; Sarangapani, Sripriya; Husain, Rahat; Jap, Aliza; Baskaran, Mani; Goh, David; Su, Daniel H.; Wang, Huaizhou; Yong, Vernon K.; Yip, Leonard W.; Trinh, Tuyet Bach; Makornwattana, Manchima; Nguyen, Thanh Thu; Leuenberger, Edgar U.; Park, Ki-Ho; Wiyogo, Widya Artini; Kumar, Rajesh S.; Tello, Celso; Kurimoto, Yasuo; Thapa, Suman S.; Pathanapitoon, Kessara; Salmon, John F.; Sohn, Yong Ho; Fea, Antonio; Ozaki, Mineo; Lai, Jimmy S. M.; Tantisevi, Visanee; Khaing, Chaw Chaw; Mizoguchi, Takanori; Nakano, Satoko; Kim, Chan-Yun; Tang, Guangxian; Fan, Sujie; Wu, Renyi; Meng, Hailin; Thi Thuy Giang Nguyen; Tien Dat Tran; Ueno, Morio; Martinez, Jose Maria; Ramli, Norlina; Aung, Yin Mon; Reyes, Rigo Daniel; Vernon, Sephen A.; Fang, Seng Kheong; Xie, Zhicheng; Chen, Xiao Yin; Foo, Jia Nee; Sim, Kar Seng; Wong, Tina T.; Quek, Desmond T.; Venkatesh, Rengaraj; Kavitha, Srinivasan; Krishnadas, Subbiah R.; Soumittra, Nagaswamy; Shantha, Balekudaru; Lim, Boon-Ang; Ogle, Jeanne; de Vasconcellos, Jose P. C.; Costa, Vital P.; Abe, Ricardo Y.; de Souza, Bruno B.; Sng, Chelvin C.; Aquino, Maria C.; Kosior-Jarecka, Ewa; Fong, Guillermo Barreto; Tamanaja, Vania Castro; Fujita, Ricardo; Jiang, Yuzhen; Waseem, Naushin; Low, Sancy; Huan Nguyen Pham; Al-Shahwan, Sami; Craven, E. Randy; Khan, Muhammad Imran; Dada, Rrima; Mohanty, Kuldeep; Faiq, Muneeb A.; Hewitt, Alex W.; Burdon, Kathryn P.; Gan, Eng Hui; Prutthipongsit, Anuwat; Patthanathamrongkasem, Thipnapa; Catacutan, Mary Ann T.; Felarca, Irene R.; Liao, Chona S.; Rusmayani, Emma; Istiantoro, Vira Wardhana; Consolandi, Giulia; Pignata, Giulia; Lavia, Carlo; Rojanapongpun, Prin; Mangkornkanokpong, Lerprat; Chansangpetch, Sunee; Chan, Jonathan C. H.; Choy, Bonnie N. K.; Shum, Jennifer W. H.; Hlaing May Than; Oo, Khin Thida; Han, Aye Thi; Yong, Victor H.; Ng, Xiao-Yu; Goh, Shuang Ru; Chong, Yaan Fun; Hibberd, Martin L.; Seielstad, Mark; Png, Eileen; Dunstan, Sarah J.; Chau, Nguyen Van Vinh; Bei, Jinxin; Zeng, Yi Xin; Karkey, Abhilasha; Basnyat, Buddha; Pasutto, Francesca; Paoli, Daniela; Frezzotti, Paolo; Wang, Jie Jin; Mitchell, Paul; Fingert, John H.; Allingham, R. Rand; Hauser, Michael A.; Lim, Soon Thye; Chew, Soo Hong; Ebstein, Richard P.; Sakuntabhai, Anavaj; Park, Kyu Hyung; Ahn, Jeeyun; Boland, Greet; Snippe, Harm; Stead, Richard; Quino, Raquel; Zaw, Su Nyunt; Lukasik, Urszula; Shetty, Rohit; Zahari, Mimiwati; Bae, Hyoung Won; Oo, Nay Lin; Kubota, Toshiaki; Manassakorn, Anita; Ho, Wing Lau; Dallorto, Laura; Hwang, Young Hoon; Kiire, Christine A.; Kuroda, Masako; Djamal, Zeiras Eka; Peregrino, Jovell Ian M.; Ghosh, Arkasubhra; Jeoung, Jin Wook; Hoan, Tung S.; Srisamran, Nuttamon; Sandragasu, Thayanithi; Set, Saw Htoo; Doan, Vi Huyen; Bhattacharya, Shomi S.; Ho, Ching-Lin; Tan, Donald T.; Sihota, Ramanjit; Loon, Seng-Chee; Mori, Kazuhiko; Kinoshita, Shigeru; den Hollander, Anneke I.; Qamar, Raheel; Wang, Ya-Xing; Teo, Yik Y.; Tai, E-Shyong; Hartleben-Matkin, Curt; Lozano-Giral, David; Saw, Seang Mei; Cheng, Ching-Yu; Zenteno, Juan C.; Pang, Chi Pui; Bui, Huong T. T.; Hee, Owen; Craig, Jamie E.; Edward, Deepak P.; Yonahara, Michiko; Neto, Jamil Miguel; Guevara-Fujita, Maria L.; Xu, Liang; Ritch, Robert; Liza-Sharmini, Ahmad Tajudin; Wong, Tien Y.; Al-Obeidan, Saleh; Do, Nhu Hon; Sundaresan, Periasamy; Tham, Clement C.; Foster, Paul J.; Vijaya, Lingam; Tashiro, Kei; Vithana, Eranga N.; Wang, Ningli; Aung, Tin

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

加拿大法国创始人常染色体显性视网膜色素变性 (adRP) 的基因型和表型研究

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2015-12-3034

OAAI

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

自噬调节因子DRAM2中的双等位基因突变导致视网膜营养不良并伴有早期黄斑受累

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-06-0138

OAAI

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

HUMAN MOLECULAR GENETICS

IF3.2

2014-06-0457

OAAI

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

ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

PLOS GENETICS

IF3.7

2014-03-0663

OAAI

Nongpiur, Monisha E.; Khor, Chiea Chuen; Jia, Hongyan; Cornes, Belinda K.; Chen, Li-Jia; Qiao, Chunyan; Nair, K. Saidas; Cheng, Ching-Yu; Xu, Liang; George, Ronnie; Do, Tan; Abu-Amero, Khaled; Perera, Shamira A.; Ozaki, Mineo; Mizoguchi, Takanori; Kurimoto, Yasuo; Low, Sancy; Tajudin, Liza-Sharmini A.; Ho, Ching-Lin; Tham, Clement C. Y.; Soto, Ileana; Chew, Paul T. K.; Wong, Hon-Tym; Shantha, Balekudaru; Kuroda, Masako; Osman, Essam A.; Tang, Guangxian; Fan, Sujie; Meng, Hailin; Wang, Hua; Feng, Bo; Yong, Victor H. K.; Ting, Serena M. L.; Li, Yang; Wang, Ya-Xing; Li, Zheng; Lavanya, Raghavan; Wu, Ren-Yi; Zheng, Ying-Feng; Su, Daniel H.; Loon, Seng-Chee; Allingham, R. Rand; Hauser, Michael A.; Soumittra, Nagaswamy; Ramprasad, Vedam L.; Waseem, Naushin; Yaakub, Azhany; Chia, Kee-Seng; Kumaramanickavel, Govindasamy; Wong, Tina T.; How, Alicia C.; Tran Nguyen Bich Chau; Simmons, Cameron P.; Bei, Jin-Xin; Zeng, Yi-Xin; Bhattacharya, Shomi S.; Zhang, Mingzhi; Tan, Donald T.; Teo, Yik-Ying; Al-Obeidan, Saleh A.; Do Nhu Hon; Tai, E-Shyong; Saw, Seang-Mei; Foster, Paul J.; Vijaya, Lingam; Jonas, Jost B.; Wong, Tien-Yin; John, Simon W. M.; Pang, Chi-Pui; Vithana, Eranga N.; Wang, Ningli; Aung, Tin

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

与视网膜营养不良和肥胖相关的TUB基因中的纯合突变

HUMAN MUTATION

IF3.7

2013-12-2056

OAAI

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-08-0167

OAAI

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2013-03-2752

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

RP1L1变异与一系列遗传性视网膜疾病相关，包括色素性视网膜炎和隐匿性黄斑营养不良

HUMAN MUTATION

IF3.7

2013-03-0586

OAAI

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

NATURE GENETICS

IF31.8

2012-08-26181

OAAI

Vithana, Eranga N.; Khor, Chiea-Chuen; Qiao, Chunyan; Nongpiur, Monisha E.; George, Ronnie; Chen, Li-Jia; Tan Do; Abu-Amero, Khaled K.; Huang, Chor Kai; Low, Sancy; Tajudin, Liza-Sharmini A.; Perera, Shamira A.; Cheng, Ching-Yu; Xu, Liang; Jia, Hongyan; Ho, Ching-Lin; Sim, Kar Seng; Wu, Ren-Yi; Tham, Clement C. Y.; Chew, Paul T. K.; Su, Daniel H.; Oen, Francis T.; Sarangapani, Sripriya; Soumittra, Nagaswamy; Osman, Essam A.; Wong, Hon-Tym; Tang, Guangxian; Fan, Sujie; Meng, Hailin; Huong, Dao T. L.; Wang, Hua; Feng, Bo; Baskaran, Mani; Shantha, Balekudaru; Ramprasad, Vedam L.; Kumaramanickavel, Govindasamy; Iyengar, Sudha K.; How, Alicia C.; Lee, Kelvin Y.; Sivakumaran, Theru A.; Yong, Victor H. K.; Ting, Serena M. L.; Li, Yang; Wang, Ya-Xing; Tay, Wan-Ting; Sim, Xueling; Lavanya, Raghavan; Cornes, Belinda K.; Zheng, Ying-Feng; Wong, Tina T.; Loon, Seng-Chee; Yong, Vernon K. Y.; Waseem, Naushin; Yaakub, Azhany; Chia, Kee-Seng; Allingham, R. Rand; Hauser, Michael A.; Lam, Dennis S. C.; Hibberd, Martin L.; Bhattacharya, Shomi S.; Zhang, Mingzhi; Teo, Yik Ying; Tan, Donald T.; Jonas, Jost B.; Tai, E-Shyong; Saw, Seang-Mei; Do Nhu Hon; Al-Obeidan, Saleh A.; Liu, Jianjun; Tran Nguyen Bich Chau; Simmons, Cameron P.; Bei, Jin-Xin; Zeng, Yi-Xin; Foster, Paul J.; Vijaya, Lingam; Wong, Tien-Yin; Pang, Chi-Pui; Wang, Ningli; Aung, Tin

NMNAT1 mutations cause Leber congenital amaurosis

NATURE GENETICS

IF31.8

2012-07-29169

OAAI

Falk, Marni J.; Zhang, Qi; Nakamaru-Ogiso, Eiko; Kannabiran, Chitra; Fonseca-Kelly, Zoe; Chakarova, Christina; Audo, Isabelle; Mackay, Donna S.; Zeitz, Christina; Borman, Arundhati Dev; Staniszewska, Magdalena; Shukla, Rachna; Palavalli, Lakshmi; Mohand-Said, Saddek; Waseem, Naushin H.; Jalali, Subhadra; Perin, Juan C.; Place, Emily; Ostrovsky, Julian; Xiao, Rui; Bhattacharya, Shomi S.; Consugar, Mark; Webster, Andrew R.; Sahel, Jose-Alain; Moore, Anthony T.; Berson, Eliot L.; Liu, Qin; Gai, Xiaowu; Pierce, Eric A.

Expression of PRPF31 and TFPT: regulation in health and retinal disease

HUMAN MOLECULAR GENETICS

IF3.2

2012-06-2019

OAAI

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2011-12-0241

PREAI

A 112 kb Deletion in Chromosome 19q13.42 Leads to Retinitis Pigmentosa

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE