| Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma JNC Bailey, SJ Loomis, JH Kang, RR Allingham, P Gharahkhani, CC Khor, ... Nature genetics 48 (2), 189-194, 2016 | 265 | 2016 |
| Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans Z Li, PI Sergouniotis, M Michaelides, DS Mackay, GA Wright, S Devery, ... The American Journal of Human Genetics 85 (5), 711-719, 2009 | 213 | 2009 |
| Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma Y Chen, Y Lin, EN Vithana, L Jia, X Zuo, TY Wong, LJ Chen, X Zhu, ... Nature genetics 46 (10), 1115-1119, 2014 | 205 | 2014 |
| Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma CC Khor, T Do, H Jia, M Nakano, R George, K Abu-Amero, R Duvesh, ... Nature genetics 48 (5), 556-562, 2016 | 190 | 2016 |
| New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics H Springelkamp, AI Iglesias, A Mishra, R Höhn, R Wojciechowski, ... Human molecular genetics 26 (2), 438-453, 2017 | 181 | 2017 |
| Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis PI Sergouniotis, AE Davidson, DS Mackay, Z Li, X Yang, V Plagnol, ... The American Journal of Human Genetics 89 (1), 183-190, 2011 | 171 | 2011 |
| Large-scale whole-genome sequencing of three diverse Asian populations in Singapore D Wu, J Dou, X Chai, C Bellis, A Wilm, CC Shih, WWJ Soon, N Bertin, ... Cell 179 (3), 736-749. e15, 2019 | 153 | 2019 |
| Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci T Aung, M Ozaki, MC Lee, U Schlötzer-Schrehardt, G Thorleifsson, ... Nature genetics 49 (7), 993-1004, 2017 | 144 | 2017 |
| The spatial organization of intra-tumour heterogeneity and evolutionary trajectories of metastases in hepatocellular carcinoma W Zhai, TKH Lim, T Zhang, ST Phang, Z Tiang, P Guan, MH Ng, JQ Lim, ... Nature communications 8 (1), 4565, 2017 | 141 | 2017 |
| Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 RH Henderson, DS Mackay, Z Li, P Moradi, P Sergouniotis, ... British journal of ophthalmology 95 (6), 811-817, 2011 | 128 | 2011 |
| A common variant near TGFBR3 is associated with primary open angle glaucoma Z Li, RR Allingham, M Nakano, L Jia, Y Chen, Y Ikeda, B Mani, LJ Chen, ... Human molecular genetics 24 (13), 3880-3892, 2015 | 127 | 2015 |
| A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome T Aung, M Ozaki, T Mizoguchi, RR Allingham, Z Li, A Haripriya, S Nakano, ... Nature genetics 47 (4), 387-392, 2015 | 124 | 2015 |
| A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants E Lenassi, A Vincent, Z Li, Z Saihan, AJ Coffey, HB Steele-Stallard, ... European Journal of Human Genetics 23 (10), 1318-1327, 2015 | 119 | 2015 |
| Variation at HLA-DRB1 is associated with resistance to enteric fever SJ Dunstan, NT Hue, B Han, Z Li, TTB Tram, KS Sim, CM Parry, NT Chinh, ... Nature genetics 46 (12), 1333-1336, 2014 | 107 | 2014 |
| Novel mutations in MERTK associated with childhood onset rod-cone dystrophy DS Mackay, RH Henderson, PI Sergouniotis, Z Li, P Moradi, GE Holder, ... Molecular Vision, 2010 | 104 | 2010 |
| Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus) PI Sergouniotis, EH Sohn, Z Li, VA McBain, GA Wright, AT Moore, ... Ophthalmology 118 (8), 1661-1670, 2011 | 101 | 2011 |
| Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study Z Li, Y Xia, LN Feng, JR Chen, HM Li, J Cui, QQ Cai, KS Sim, ... The Lancet Oncology 17 (9), 1240-1247, 2016 | 98 | 2016 |
| ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma ME Nongpiur, CC Khor, H Jia, BK Cornes, LJ Chen, C Qiao, KS Nair, ... PLoS genetics 10 (3), e1004089, 2014 | 96 | 2014 |
| FGF-2 release from the lens capsule by MMP-2 maintains lens epithelial cell viability FMD Tholozan, C Gribbon, Z Li, MW Goldberg, AR Prescott, N McKie, ... Molecular biology of the cell 18 (11), 4222-4231, 2007 | 96 | 2007 |
| Diffusion tensor magnetic resonance imaging reveals visual pathway damage that correlates with clinical severity in glaucoma Z Chen, F Lin, J Wang, Z Li, H Dai, K Mu, J Ge, H Zhang Clinical & experimental ophthalmology 41 (1), 43-49, 2013 | 92 | 2013 |
Donna MackayWashington University school of medicine在 vision.wustl.edu 的电子邮件经过验证
