• 1440 Citations
  • 21 h-Index

Research output per year

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Personal profile

Education/Academic qualification

Doctor of Medicine, Flinders University


PhD, The Scripps Research Institute


PhD, University of Oxford


Bachelor of Science (Honours), Australian National University


Bachelor of Science, University of Adelaide


External positions

Resident Medical Officer, Central Adelaide Local Health Network

2019 → …

Visiting Scientist, Garvan Institute

2017 → …

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Research Output

  • 1440 Citations
  • 21 h-Index
  • 47 Article
  • 4 Review article
  • 1 Comment/debate

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., 7 Jan 2020, In : Ophthalmology. 7 p.

Research output: Contribution to journalArticle

  • 2 Citations (Scopus)

    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 journalArticle

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

    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

  • 7 Citations (Scopus)

    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 journalArticle

  • Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

    Siggs, O. M., Souzeau, E., Breen, J., Qassim, A., Zhou, T., Dubowsky, A., Ruddle, J. B. & Craig, J. E., 1 Jan 2019, In : Molecular Vision. 25, p. 527-534 8 p.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Citation (Scopus)