Следене
Emmanuelle Souzeau
Emmanuelle Souzeau
Няма данни за членство
Потвърден имейл адрес: flinders.edu.au
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Позовавания
Позовавания
Година
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ...
Nature genetics 48 (2), 134-143, 2016
15452016
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
4792011
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
2602020
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
2332014
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
2162016
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
1902017
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
1862018
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
1502017
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
1282019
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
1202014
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
1082017
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
1072013
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
992015
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
982018
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
852012
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
662013
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
632017
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
612014
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
602021
Association of smoking, alcohol consumption, blood pressure, body mass index, and glycemic risk factors with age-related macular degeneration: a Mendelian randomization study
V Kuan, A Warwick, A Hingorani, A Tufail, V Cipriani, S Burgess, R Sofat, ...
JAMA ophthalmology 139 (12), 1299-1306, 2021
552021
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