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Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 KP Burdon, S Macgregor, AW Hewitt, S Sharma, G Chidlow, RA Mills, ... Nature genetics 43 (6), 574-578, 2011 | 469 | 2011 |
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression JE Craig, X Han, A Qassim, M Hassall, JN Cooke Bailey, TG Kinzy, ... Nature genetics 52 (2), 160-166, 2020 | 234 | 2020 |
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma P Gharahkhani, KP Burdon, R Fogarty, S Sharma, AW Hewitt, S Martin, ... Nature genetics 46 (10), 1120-1125, 2014 | 224 | 2014 |
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity T Souma, SW Tompson, BR Thomson, OM Siggs, K Kizhatil, S Yamaguchi, ... The Journal of clinical investigation 126 (7), 2575-2587, 2016 | 200 | 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 |
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma S MacGregor, JS Ong, J An, X Han, T Zhou, OM Siggs, MH Law, ... Nature genetics 50 (8), 1067-1071, 2018 | 172 | 2018 |
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 responsibility to recontact research participants after reinterpretation of genetic and genomic research results Y Bombard, KB Brothers, S Fitzgerald-Butt, G Nanibaa’A, L Jamal, ... The American Journal of Human Genetics 104 (4), 578-595, 2019 | 120 | 2019 |
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process H Springelkamp, R Höhn, A Mishra, PG Hysi, CC Khor, SJ Loomis, ... Nature communications 5 (1), 4883, 2014 | 117 | 2014 |
Mutational analysis of MIR184 in sporadic keratoconus and myopia J Lechner, HA Bae, J Guduric-Fuchs, A Rice, G Govindarajan, S Siddiqui, ... Investigative ophthalmology & visual science 54 (8), 5266-5272, 2013 | 101 | 2013 |
Angiopoietin-1 is required for Schlemm’s canal development in mice and humans BR Thomson, T Souma, SW Tompson, T Onay, K Kizhatil, OM Siggs, ... The Journal of clinical investigation 127 (12), 4421-4436, 2017 | 95 | 2017 |
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma MS Awadalla, JH Fingert, BE Roos, S Chen, R Holmes, SL Graham, ... American journal of ophthalmology 159 (1), 124-130. e1, 2015 | 95 | 2015 |
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases AI Iglesias, A Mishra, V Vitart, Y Bykhovskaya, R Höhn, H Springelkamp, ... Nature communications 9 (1), 1864, 2018 | 88 | 2018 |
Australian and New Zealand registry of advanced glaucoma: methodology and recruitment E Souzeau, I Goldberg, PR Healey, RAD Mills, J Landers, SL Graham, ... Clinical & experimental ophthalmology 40 (6), 569-575, 2012 | 83 | 2012 |
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry E Souzeau, KP Burdon, A Dubowsky, S Grist, B Usher, JT Fitzgerald, ... Ophthalmology 120 (6), 1135-1143, 2013 | 64 | 2013 |
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants E Souzeau, OM Siggs, T Zhou, A Galanopoulos, T Hodson, D Taranath, ... European Journal of Human Genetics 25 (7), 839-847, 2017 | 59 | 2017 |
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12 MS Awadalla, KP Burdon, E Souzeau, J Landers, AW Hewitt, S Sharma, ... JAMA ophthalmology 132 (8), 970-977, 2014 | 59 | 2014 |
Effect of corneal cross-linking versus standard care on keratoconus progression in young patients: the KERALINK randomized controlled trial DFP Larkin, K Chowdhury, JM Burr, M Raynor, M Edwards, SJ Tuft, ... Ophthalmology 128 (11), 1516-1526, 2021 | 56 | 2021 |
An intraocular pressure polygenic risk score stratifies multiple primary open-angle glaucoma parameters including treatment intensity A Qassim, E Souzeau, OM Siggs, MM Hassall, X Han, HL Griffiths, ... Ophthalmology 127 (7), 901-907, 2020 | 50 | 2020 |