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Emmanuelle Souzeau
Emmanuelle Souzeau
Unknown affiliation
Verified email at flinders.edu.au
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Cited by
Cited by
Year
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
10062016
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
4132011
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
1702014
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
1382016
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
1332017
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
1072018
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), 1-7, 2014
1062014
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
1032020
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
942017
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
842019
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
822013
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
732015
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
702012
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), 1-11, 2018
562018
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
562017
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
522013
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
482014
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
462017
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
P Gharahkhani, KP Burdon, JN Cooke Bailey, AW Hewitt, MH Law, ...
Scientific reports 8 (1), 1-12, 2018
382018
Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family
KJ Laurie, A Dave, T Straga, E Souzeau, T Chataway, MJ Sykes, T Casey, ...
Human mutation 34 (3), 435-438, 2013
312013
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