• 1799 Citations
  • 19 h-Index

Research output per year

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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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Research Output

  • 1799 Citations
  • 19 h-Index
  • 57 Article
  • 2 Review article
  • 1 Comment/debate
  • 1 Letter

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, Lotery, A. J., MacGregor, S. & Craig, J. E., Jul 2020, In : Ophthalmology. 127, 7, p. 901-907 7 p.

Research output: Contribution to journalArticle

  • 2 Citations (Scopus)

    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 journalArticle

    Open Access
  • 1 Citation (Scopus)
    3 Downloads (Pure)

    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., Jun 2020, In : Ophthalmology. 127, 6, p. 758-766 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • 4 Citations (Scopus)
    1 Downloads (Pure)

    Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature

    Shields, M., Craig, J. E., Souzeau, E. & Gupta, A., 3 Jul 2020, In : Ophthalmic Genetics. 41, 4, p. 368-372 5 p.

    Research output: Contribution to journalReview article

  • 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 journalArticle

  • 11 Citations (Scopus)