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Journal Article
by Li, Zheng and Allingham, R. Rand and Nakano, Masakazu and Jia, Liyun and Chen, Yuhong and Ikeda, Yoko and Mani, Baskaran and Chen, Li-Jia and Kee, Changwon and Garway-Heath, David F and Sripriya, Sarangapani and Fuse, Nobuo and Abu-Amero, Khaled K and Huang, Chukai and Namburi, Prasanthi and Burdon, Kathryn and Perera, Shamira A and Gharahkhani, Puya and Lin, Ying and Ueno, Morio and Ozaki, Mineo and Mizoguchi, Takanori and Krishnadas, Subbiah Ramasamy and Osman, Essam A and Lee, Mei Chin and Chan, Anita S.Y and Tajudin, Liza-Sharmini A and Do, Tan and Goncalves, Aurelien and Reynier, Pascal and Zhang, Hong and Bourne, Rupert and Goh, David and Broadway, David and Husain, Rahat and Negi, Anil K and Su, Daniel H and Ho, Ching-Lin and Blanco, Augusto Azuara and Leung, Christopher K.S and Wong, Tina T and Yakub, Azhany and Liu, Yutao and Nongpiur, Monisha E and Han, Jong Chul and Hon, Do Nhu and Shantha, Balekudaru and Zhao, Bowen and Sang, Jinghong and Zhang, NiHong and Sato, Ryuichi and Yoshii, Kengo and Panda-Jonas, Songhomita and Ashley Koch, Allison E and Herndon, Leon W and Moroi, Sayoko E and Challa, Pratap and Foo, Jia Nee and Bei, Jin-Xin and Zeng, Yi-Xin and Simmons, Cameron P and Bich Chau, Tran Nguyen and Sharmila, Philomenadin Ferdinamarie and Chew, Merwyn and Lim, Blanche and Tam, Pansy O.S and Chua, Elaine and Ng, Xiao Yu and Yong, Victor H.K and Chong, Yaan Fun and Meah, Wee Yang and Vijayan, Saravanan and Seongsoo, Sohn and Xu, Wang and Teo, Yik Ying and Cooke Bailey, Jessica N and Kang, Jae H and Haines, Jonathan L and Cheng, Ching Yu and Saw, Seang-Mei and Tai, E.-Shyong and Richards, Julia E and Ritch, Robert and Gaasterland, Douglas E and Pasquale, Louis R and Liu, Jianjun and Jonas, Jost B and Milea, Dan and George, Ronnie and Al-Obeidan, Saleh A and Mori, Kazuhiko and Macgregor, Stuart and Hewitt, Alex W and Girkin, Christopher A and Zhang, Mingzhi and Sundaresan, Periasamy and Vijaya, Lingam and Mackey, David A and Wong, Tien Yin and Craig, Jamie E and ... and ICAARE-Glaucoma Consortium and NEIGHBORHOOD Consortium
Human Molecular Genetics, ISSN 0964-6906, 07/2015, Volume 24, Issue 13, pp. 3880 - 3892
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome... 
NUMBER | RISK-FACTORS | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SUSCEPTIBILITY | GENETICS & HEREDITY | LOCI | PEOPLE | IDENTIFICATION | LINKAGE | CANCER | GENOME-WIDE ASSOCIATION | Life Sciences | Human health and pathology | Association Studies
Journal Article
Current science (Bangalore), ISSN 0011-3891, 11/2006, Volume 91, Issue 10, pp. 1364 - 1369
Journal Article
Human mutation, ISSN 1059-7794, 9/2015, Volume 36, Issue 9, pp. 836 - 841
Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we... 
DYSF | retinal degeneration | vision loss | pleiotropic phenotypes | ALMS1 | photoreceptor
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 397 - 397
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1222 - 1223
In the original article, Table 1 included multiple editing errors. The corrected table has been included here and online. The authors regret the error. 
Journal Article
Frontiers in molecular neuroscience, ISSN 1662-5099, 2018, Volume 11, p. 348
Over 100 mutations in that encodes the photoreceptor guanylate cyclase GC-E are known to cause two major diseases: autosomal recessive Leber congenital... 
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, p. 777
  Inherited retinal diseases (IRDs) are a diverse group of genetically and clinically heterogeneous retinal abnormalities. The present study was designed to... 
Proteins | Polymerase chain reaction | Deafness | Eye diseases | Mutation
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2014, Volume 20, pp. 724 - 731
Various autosomal recessive retinal dystrophies are reported to be associated with mutations in nuclear receptor subfamily 2, group E, member 3 (NR2E3, also... 
Journal Article
by Li, Zheng and Allingham, R Rand and Nakano, Masakazu and Jia, Liyun and Chen, Yuhong and Ikeda, Yoko and Mani, Baskaran and Chen, Li-Jia and Kee, Changwon and Garway-Heath, David F and Sripriya, Sarangapani and Fuse, Nobuo and Abu-Amero, Khaled K and Huang, Chukai and Namburi, Prasanthi and Burdon, Kathryn and Perera, Shamira A and Gharahkhani, Puya and Lin, Ying and Ueno, Morio and Ozaki, Mineo and Mizoguchi, Takanori and Krishnadas, Subbiah Ramasamy and Osman, Essam A and Lee, Mei Chin and Chan, Anita S Y and Tajudin, Liza-Sharmini A and Do, Tan and Goncalves, Aurelien and Reynier, Pascal and Zhang, Hong and Bourne, Rupert and Goh, David and Broadway, David and Husain, Rahat and Negi, Anil K and Su, Daniel H and Ho, Ching-Lin and Blanco, Augusto Azuara and Leung, Christopher K S and Wong, Tina T and Yakub, Azhany and Liu, Yutao and Nongpiur, Monisha E and Han, Jong Chul and Hon, Do Nhu and Shantha, Balekudaru and Zhao, Bowen and Sang, Jinghong and Zhang, NiHong and Sato, Ryuichi and Yoshii, Kengo and Panda-Jonas, Songhomita and Ashley Koch, Allison E and Herndon, Leon W and Moroi, Sayoko E and Challa, Pratap and Foo, Jia Nee and Bei, Jin-Xin and Zeng, Yi-Xin and Simmons, Cameron P and Bich Chau, Tran Nguyen and Sharmila, Philomenadin Ferdinamarie and Chew, Merwyn and Lim, Blanche and Tam, Pansy O S and Chua, Elaine and Ng, Xiao Yu and Yong, Victor H K and Chong, Yaan Fun and Meah, Wee Yang and Vijayan, Saravanan and Seongsoo, Sohn and Xu, Wang and Teo, Yik Ying and Cooke Bailey, Jessica N and Kang, Jae H and Haines, Jonathan L and Cheng, Ching Yu and Saw, Seang-Mei and Tai, E-Shyong and Richards, Julia E and Ritch, Robert and Gaasterland, Douglas E and Pasquale, Louis R and Liu, Jianjun and Jonas, Jost B and Milea, Dan and George, Ronnie and Al-Obeidan, Saleh A and Mori, Kazuhiko and Macgregor, Stuart and Hewitt, Alex W and Girkin, Christopher A and Zhang, Mingzhi and Sundaresan, Periasamy and Vijaya, Lingam and Mackey, David A and Wong, Tien Yin and Craig, Jamie E and ... and ICAARE-Glaucoma Consortium and NEIGHBORHOOD Consortium
Human molecular genetics, 07/2015, Volume 24, Issue 13, p. 3880
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome... 
Receptors, Transforming Growth Factor beta - genetics | Glaucoma, Open-Angle - genetics | Humans | Middle Aged | Genotype | Male | Genetic Variation | Alleles | Aged, 80 and over | Female | Aged | Polymorphism, Single Nucleotide | Proteoglycans - genetics
Journal Article