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
Fingerprint
Dive into the research topics where Emmanuelle Souzeau is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 12 Similar Profiles
Network
Recent external collaboration on country level. Dive into details by clicking on the dots or
Research output
-
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 AccessFile -
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., May 2021, (E-pub ahead of print) In: Human Mutation. 9 p.Research output: Contribution to journal › Article › peer-review
-
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants
Souzeau, E., Siggs, O. M., Pasutto, F., Knight, L. S. W., Perez-Jurado, L. A., McGregor, L., Le Blanc, S., Barnett, C. P., Liebelt, J. & Craig, J. E., Feb 2021, In: American Journal of Medical Genetics, Part A. 185, 2, p. 434-439 6 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
NEIGHBORHOOD Consortium, ANZRAG Consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Qassim, A., Siggs, O. M., Sharma, S., Martin, S., Zhou, T., Souzeau, E., Landers, J., Fitzgerald, J. T., Mills, R. A., Craig, J., Burdon, K. & Craig, J. E., 24 Feb 2021, In: Nature Communications. 12, 1, 16 p., 1258.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Normal-tension glaucoma is associated with cognitive impairment
Mullany, S., Xiao, L., Qassim, A., Marshall, H., Gharahkhani, P., Macgregor, S., Hassall, M. M., Siggs, O. M., Souzeau, E. & Craig, J. E., 2021, (Accepted/In press) In: British Journal of Ophthalmology. 5 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile
Prizes
-
-
Vice-Chancellor's Award for Early Career Researchers
Souzeau, Emmanuelle (Recipient), 25 Sep 2020
Prize