Research Output per year
Personal profile
Research Biography
Emmanuelle Souzeau is a researcher and genetic counsellor in the Department of Ophthalmology. She previously worked as a clinical genetic counsellor in Montreal, Canada. She joined the Flinders Centre for Ophthalmology, Eye and Vision Research at Flinders University in 2008 as a research genetic counsellor. She has experience in medical research, genetic testing, patient counselling and support.
Research Interests
Genetic testing and counselling
Inherited eye diseases
Translation research
Education/Academic qualification
PhD, Flinders University
Award Date: 19 Dec 2017
Master, University of Montreal (Université de Montréal)
Award Date: 3 Aug 2006
Master, University of Montreal (Université de Montréal)
Award Date: 3 Feb 2005
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Research Output
An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity
Qassim, A., Souzeau, E., Siggs, O. M., Hassall, M. M., Han, X., Griffiths, H. L., Frost, N. A., Vallabh, N. A., Kirwan, J. F., Menon, G., Cree, A. J., Galanopoulos, A., Agar, A., Healey, P. R., Graham, S. L., Landers, J., Casson, R. J., Gharahkhani, P., Willoughby, C. E., Hewitt, A. W. & 3 others, , 7 Jan 2020, In : Ophthalmology. 7 p.Research output: Contribution to journal › Article
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
Strunz, T., Lauwen, S., Kiel, C., International AMD Genomics Consortium (IAMDGC), Burdon, K. P., Hunter, D. J., Souzeau, E., Hall, J., Lake, S., Mackey, D. A. & Craig, J. E., 31 Jan 2020, In : Scientific Reports. 10, 1, 16 p., 1584.Research output: Contribution to journal › Article
Open Access
File
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
Siggs, O. M., Souzeau, E., Taranath, D. A., Dubowsky, A., Chappell, A., Zhou, T., Javadiyan, S., Nicholl, J., Kearns, L. S., Staffieri, S. E., Narita, A., Smith, J. E. H., Pater, J., Hewitt, A. W., Ruddle, J. B., Elder, J. E., Mackey, D. A., Burdon, K. P. & Craig, J. E., 7 Jan 2020, In : Ophthalmology. 127, 6, p. 758-766 9 p.Research output: Contribution to journal › Article
Open Access
File
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression
NEIGHBORHOOD Consortium, UK Biobank Eye and Vision Consortium, Craig, J. E., Qassim, A., Hassall, M., Marshall, H., Zhou, T., Siggs, O., Souzeau, E., Ridge, B., Burdon, K. P., Mills, R. A., Landers, J., White, A. J. R., Andrew, N. H., Foster, P. J. & Mackey, D. A., 1 Feb 2020, In : Nature Genetics. 52, 2, p. 160-166 7 p.Research output: Contribution to journal › Article
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
Siggs, O. M., Awadalla, M., Souzeau, E., Staffieri, S., Kearns, L., Laurie, K., Kuot, A., Qassim, A., Edwards, T. L., Coote, M. A., Mancel, E., Walland, M. J., Dondey, J., Galanopoulous, A., Casson, R. J., Mills, R. A., MacArthur, D. G., Ruddle, J., Burdon, K. & Craig, J. E., May 2020, In : Clinical Genetics. 97, 5, p. 764-769 6 p.Research output: Contribution to journal › Article