Owen M. Siggs - Publications, H-index & Citations

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Owen M. Siggs

Garvan Institute of Medical Research

39H-index

147Paper Count

5.0KCitation Count

Published Papers 69

Publication Date

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome

European Journal of Human Genetics

IF4.6

2026-03-01

PREAI

Mitchell, Lucas A.; Schmidt, Joshua; Souzeau, Emmanuelle; Knight, Lachlan S. W.; Maxwell, Giorgina; Dubowsky, Andrew; Lim, Ridia; Formaini, Edward; Welland, Matthew; Simons, Cas; Macarthur, Daniel G.; Wiggs, Janey L.; Craig, Jamie E.; Siggs, Owen M.

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Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals

Translational Vision Science & Technology

IF2.6

2026-01-01

OAAI

Hollitt, Georgina L.; Cohen-Woods, Sarah; Siggs, Owen M.; Craig, Jamie E.; Souzeau, Emmanuelle

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A multitrait polygenic risk score for open-angle glaucoma stratifies risk of pigmentary glaucoma in pigment dispersion syndrome.

Ophthalmology Glaucoma

IF3.2

2025-10-21

PREAI

Antonia Kolovos; Ayub Qassim; Henry Marshall; Thi Thi Nguyen; Joshua Schmidt; Mark M. Hassall; Victoria Tang; Giorgina Maxwell; John Landers; Richard Mills; Stewart Lake; Stuart Graham; Angela Schulz; Anna Galanopoulos; Robert J. Casson; Ivan Goldberg; Michael Coote; Stephen Best; Jed Lusthaus; Paul R. Healey; Leslie Burnett; Marc Töteberg-Harms; Erin A. Boese; Andrew E. Pouw; Puya Gharahkhani; Todd Scheetz; Alex W. Hewitt; Stuart MacGregor; Owen M. Siggs; Emmanuelle Souzeau; John H. Fingert; Jamie E. Craig

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Ophthalmology

IF9.5

2025-06-13

PREAI

Antonia Kolovos; Ayub Qassim; Mark M. Hassall; Emmanuelle Souzeau; Owen M. Siggs; Jamie E. Craig

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A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation

Ophthalmology

IF9.5

2025-02-24

OAAI

Antonia Kolovos; Ayub Qassim; Mark M. Hassall; Henry N. Marshall; Joshua Schmidt; Thi Thi Nguyen; Weixiong He; Sean Mullany; Georgina L. Hollitt; Ella C. Berry; Victoria Tang; Tiger Zhou; Stewart Lake; Richard Mills; John Landers; Robert J. Casson; Anna Galanopoulos; Stuart L. Graham; Angela Schulz; Paul R. Healey; Paul Mitchell; Ivan Goldberg; John Grigg; Jonathan Ruddle; David A. Mackey; Kathryn P. Burdon; Alex W. Hewitt; Mathias Seviiri; Puya Gharahkhani; Emmanuelle Souzeau; Owen M. Siggs; Stuart MacGregor; Jamie E. Craig

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Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

IF5.6

2024-09-08

OAAI

Hollitt, Georgina L.; Keane, Miriam C.; Nguyen, Thi T.; Hassall, Mark M.; Siggs, Owen M.; Craig, Jamie E.; Souzeau, Emmanuelle

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Annual Review of Genomics and Human Genetics Polygenic Risk Scores Driving Clinical Change in Glaucoma

annual review of genetics

IF7.9

2024-08-27

PREAI

Kolovos, Antonia; Hassall, Mark M.; Siggs, Owen M.; Souzeau, Emmanuelle; Craig, Jamie E.

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Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology

OPHTHALMOLOGY SCIENCE

IF4.6

2024-07-01

OAAI

Greatbatch, Connor J.; Lu, Qinyi; Hung, Sandy; Tran, Son N.; Wing, Kristof; Liang, Helena; Han, Xikun; Zhou, Tiger; Siggs, Owen M.; Mackey, David A.; Liu, Guei-Sheung; Cook, Anthony L.; Powell, Joseph E.; Craig, Jamie E.; Macgregor, Stuart; Hewitt, Alex W.

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High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma

HUMAN MOLECULAR GENETICS

IF3.2

2024-01-25

OAAI

Greatbatch, Connor J.; Lu, Qinyi; Hung, Sandy; Barnett, Alexander J.; Wing, Kristof; Liang, Helena; Han, Xikun; Zhou, Tiger; Siggs, Owen M.; Mackey, David A.; Cook, Anthony L.; Senabouth, Anne; Liu, Guei-Sheung; Craig, Jamie E.; Macgregor, Stuart; Powell, Joseph E.; Hewitt, Alex W.

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Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series

AMERICAN JOURNAL OF NEURORADIOLOGY

IF3.7

2023-09-07

OAAI

White, Samuel; Taranath, Ajay; Hanagandi, Prasad; Taranath, Deepa A.; To, Minh-Son; Souzeau, Emmanuelle; Siggs, Owen M.; Craig, Jamie E.

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No Strong Association between the Apolipoprotein E E4 Allele and Glaucoma A Multicohort Study

OPHTHALMOLOGY SCIENCE

IF4.6

2023-09-01

OAAI

Mullany, Sean; Diaz-Torres, Santiago; Schmidt, Joshua M.; Thomson, Daniel; Qassim, Ayub; Marshall, Henry N.; Knight, Lachlan S. W.; Berry, Ella C.; Kolovos, Antonia; Dimasi, David; Lake, Stewart; Mills, Richard A.; Landers, John; Mitchell, Paul; Healey, Paul R.; Commerford, Toby; Klebe, Sonja; Souzeau, Emmanuelle; Hassall, Mark M.; MacGregor, Stuart; Gharahkhani, Puya; Siggs, Owen M.; Craig, Jamie E.

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High Polygenic Risk Is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open-Angle Glaucoma

OPHTHALMOLOGY

IF9.5

2023-08-01

PREAI

Marshall, Henry N.; Mullany, Sean; Han, Xikun; Qassim, Ayub; He, Weixiong; Hassall, Mark M.; Schmidt, Joshua; Thomson, Daniel; Nguyen, Thi Thi; Berry, Ella C.; Knight, Lachlan S. W.; Hollitt, Georgina L.; Ridge, Bronwyn; Schulz, Angela; Mills, Richard A.; Healey, Paul R.; Agar, Ashish; Galanopoulos, Anna; Landers, John; Graham, Stuart L.; Hewitt, Alex W.; Casson, Robert J.; MacGregor, Stuart; Siggs, Owen M.; Craig, Jamie E.

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Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse

SCIENTIFIC REPORTS

IF3.9

2023-07-07

OAAI

Hassall, Mark M.; Javadiyan, Shari; Klebe, Sonja; Awadalla, Mona S.; Sharma, Shiwani; Qassim, Ayub; White, Melissa; Thomas, Paul Q.; Craig, Jamie E.; Siggs, Owen M.

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Physical Activity Is Associated With Macular Thickness: A Multi-Cohort Observational Study

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2023-03-03

OAAI

Berry, Ella C.; Marshall, Henry N.; Mullany, Sean; Torres, Santiago Diaz; Schmidt, Joshua; Thomson, Daniel; Knight, Lachlan S. W.; Hollitt, Georgina L.; Qassim, Ayub; Ridge, Bronwyn; Schulz, Angela; Hassall, Mark M.; Nguyen, Thi Thi; Lake, Stewart; Mills, Richard A.; Agar, Ashish; Galanopoulos, Anna; Landers, John; Healey, Paul R.; Graham, Stuart L.; Hewitt, Alex W.; MacGregor, Stuart; Casson, Robert J.; Siggs, Owen M.; Craig, Jamie E.

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Association Between Body Mass Index and Primary Open Angle Glaucoma in Three Cohorts

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2023-01-01

PREAI

Marshall, Henry; Berry, Ella C.; Torres, Santiago Diaz; Mullany, Sean; Schmidt, Joshua; Thomson, Daniel; Nguyen, Thi Thi; Knight, Lachlan S. W.; Hollitt, Georgina; Qassim, Ayub; Kolovos, Antonia; Ridge, Bronwyn; Schulz, Angela; Lake, Stewart; Mills, Richard A.; Agar, Ashish; Galanopoulos, Anna; Landers, John; Healey, Paul R.; Graham, Stuart L.; Hewitt, Alex W.; Casson, Robert J.; Macgregor, Stuart; Siggs, Owen M.; Craig, Jamie E.

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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2022-12-01

OAAI

Fu, Haojie; Siggs, Owen M.; Knight, Lachlan S. W.; Staffieri, Sandra E.; Ruddle, Jonathan B.; Birsner, Amy E.; Collantes, Edward Ryan; Craig, Jamie E.; Wiggs, Janey L.; D'Amato, Robert J.

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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

HUMAN MUTATION

IF3.7

2022-10-19

OAAI

Burdon, Kathryn P.; Graham, Patricia; Hadler, Johanna; Hulleman, John D.; Pasutto, Francesca; Boese, Erin A.; Craig, Jamie E.; Fingert, John H.; Hewitt, Alex W.; Siggs, Owen M.; Whisenhunt, Kristina; Young, Terri L.; Mackey, David A.; Dubowsky, Andrew; Souzeau, Emmanuelle

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The APOE E4 Allele Is Associated with Faster Rates of Neuroretinal Thinning in a Prospective Cohort Study of Suspect and Early Glaucoma

OPHTHALMOLOGY SCIENCE

IF4.6

2022-06-01

OAAI

Mullany, Sean; Marshall, Henry; Diaz-Torres, Santiago; Berry, Ella C.; Schmidt, Joshua M.; Thomson, Daniel; Qassim, Ayub; To, Minh -Son; Dimasi, David; Kuot, Abraham; Knight, Lachlan S. W.; Hollitt, Georgina; Kolovos, Antonia; Schulz, Angela; Lake, Stewart; Mills, Richard A.; Agar, Ashish; Galanopoulos, Anna; Landers, John; Mitchell, Paul; Healey, Paul R.; Graham, Stuart L.; Hewitt, Alex W.; Souzeau, Emmanuelle; Hassall, Mark M.; Klebe, Sonja; MacGregor, Stuart; Gharahkhani, Puya; Casson, Robert J.; Siggs, Owen M.; Craig, Jamie E.

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RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2022-03-29

OAAI

Mullany, Sean; Marshall, Henry; Zhou, Tiger; Thomson, Daniel; Schmidt, Joshua M.; Qassim, Ayub; Knight, Lachlan S. W.; Hollitt, Georgina; Berry, Ella C.; Thi Nguyen; To, Minh-Son; Dimasi, David; Kuot, Abraham; Dubowsky, Joshua; Fogarty, Rhys; Sun, Michelle; Chehade, Luke; Kuruvilla, Shilpa; Supramaniam, Devaraj; Breen, James; Sharma, Shiwani; Landers, John; Lake, Stewart; Mills, Richard A.; Hassall, Mark M.; Chan, Weng O.; Klebe, Sonja; Souzeau, Emmanuelle; Siggs, Owen M.; Craig, Jamie E.

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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

OPHTHALMOLOGY

IF9.5

2021-11-01

OAAI

Knight, Lachlan S. W.; Ruddle, Jonathan B.; Taranath, Deepa A.; Goldberg, Ivan; Smith, James E. H.; Gole, Glen; Chiang, Mark Y.; Willett, Faren; D'Mellow, Guy; Breen, James; Qassim, Ayub; Mullany, Sean; Elder, James E.; Vincent, Andrea L.; Staffieri, Sandra E.; Kearns, Lisa S.; Mackey, David A.; Luu, Susie; Siggs, Owen M.; Souzeau, Emmanuelle; Craig, Jamie E.

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Research Directions