Research output per year
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, Université de Montréal
Award Date: 3 Aug 2006
Master, Université de Montréal
Award Date: 3 Feb 2005
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Network
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An assessment of GUCA1C variants in primary congenital glaucoma
Souzeau, E., Weisschuh, N., Craig, J. E., Pasutto, F. & Koch, K. W., 2 Mar 2021, In: Genes. 12, 3, 5 p., 359.Research output: Contribution to journal › Comment/debate
Open AccessFile6 Downloads (Pure) -
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type
Mullany, S., Souzeau, E., Klebe, S., Zhou, T., Knight, L. S. W., Qassim, A., Berry, E. C., Marshall, H., Hussey, M., Dubowsky, A., Breen, J., Hassall, M. M., Mills, R. A., Craig, J. E. & Siggs, O. M., Jul 2021, In: Human Mutation. 42, 7, p. 818-826 9 p.Research output: Contribution to journal › Article › peer-review
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A Polygenic Risk Score Predicts Intraocular Pressure Readings Outside Office Hours and Early Morning Spikes as Measured by Home Tonometry
Qassim, A., Mullany, S., Awadalla, M. S., Hassall, M. M., Nguyen, T., Marshall, H., Kolovos, A., Schulz, A. M., Han, X., Gharahkhani, P., Galanopoulos, A., Agar, A., Healey, P. R., Hewitt, A. W., Landers, J., Casson, R. J., Graham, S. L., MacGregor, S., Souzeau, E., Siggs, O. M. & 1 others, , 1 Jul 2021, In: Ophthalmology Glaucoma. 4, 4, p. 411-420 10 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Association of Monogenic and Polygenic Risk with the Prevalence of Open-Angle Glaucoma
Siggs, O. M., Han, X., Qassim, A., Souzeau, E., Kuruvilla, S., Marshall, H. N., Mullany, S., Mackey, D. A., Hewitt, A. W., Gharahkhani, P., Macgregor, S. & Craig, J. E., Sep 2021, In: JAMA Ophthalmology. 139, 9, p. 1023-1028 6 p.Research output: Contribution to journal › Article › peer-review
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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry
Knight, L. S. W., Ruddle, J. B., Taranath, D. A., Goldberg, I., Smith, J. E. H., Gole, G., Chiang, M. Y., Willett, F., D'Mellow, G., Breen, J., Qassim, A., Mullany, S., Elder, J. E., Vincent, A. L., Staffieri, S. E., Kearns, L. S., Mackey, D. A., Luu, S., Siggs, O. M., Souzeau, E. & 1 others, , 20 Apr 2021, (E-pub ahead of print) In: Ophthalmology. 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)1 Downloads (Pure)
Prizes
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Vice-Chancellor's Award for Early Career Researchers
Souzeau, Emmanuelle (Recipient), 25 Sep 2020
Prize