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Journal Articles (6)
Meeting Abstract (6)

Journal

Investigative Ophthalmology & Visual Science (10)
Translational Vision Science & Technology (2)

Article Type

ARVO Annual Meeting Abstract (6)
Genetics (2)
Glaucoma (2)
Clinical and Epidemiologic Research (1)
Review (1)

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Eye Anatomy and Disorders (6)
Glaucoma (6)
Genetics (4)
Translational Research (2)
Clinical and Epidemiologic Research (1)
Lens (1)
Visual Psychophysics and Physiological Optics (1)

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glaucoma (4)
cohort studies (3)
genes (3)
genetics (2)
open-angle glaucoma (2)
age-related macular degeneration (1)
alleles (1)
attitude (1)
biobanks (1)
body tissue (1)

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Clinical and Epidemiologic Research March 2023

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

PDF

Ella C. Berry; Henry N. Marshall; Sean Mullany; Santiago Diaz Torres; Joshua Schmidt; Daniel Thomson; Lachlan S. W. Knight; Georgina L. Hollitt; Ayub Qassim; Bronwyn Ridge; Angela Schulz; Mark M. Hassall; Thi Thi Nguyen; Stewart Lake; Richard A. Mills; Ashish Agar; Anna Galanopoulos; John Landers; Paul R. Healey; Stuart L. Graham; Alex W. Hewitt; Stuart MacGregor; Robert J. Casson; Owen M. Siggs; Jamie E. Craig
TAGS: cohort studies, physical activity, biobanks
Invest. Ophthalmol. Vis. Sci.. 2023; 64(3):11. https://doi.org/10.1167/iovs.64.3.11

Includes: Supplemental Content

Glaucoma October 2022

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

PDF

Georgina L. Hollitt; Owen M. Siggs; Bronwyn Ridge; Miriam C. Keane; David A. Mackey; Stuart MacGregor; Alex W. Hewitt; Jamie E. Craig; Emmanuelle Souzeau
TAGS: genetic risk, glaucoma, attitude
Trans. Vis. Sci. Tech.. 2022; 11(10):38. https://doi.org/10.1167/tvst.11.10.38

Includes: Supplemental Content

Glaucoma March 2022

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

PDF

Sean Mullany; Henry Marshall; Tiger Zhou; Daniel Thomson; Joshua M. Schmidt; Ayub Qassim; Lachlan S. W. Knight; Georgina Hollitt; Ella C. Berry; Thi Nguyen; Minh-Son To; David Dimasi; Abraham Kuot; Joshua Dubowsky; Rhys Fogarty; Michelle Sun; Luke Chehade; Shilpa Kuruvilla; Devaraj Supramaniam; James Breen; Shiwani Sharma; John Landers; Stewart Lake; Richard A. Mills; Mark M. Hassall; Weng O. Chan; Sonja Klebe; Emmanuelle Souzeau; Owen M. Siggs; Jamie E. Craig
TAGS: genes, lens, crystalline, epithelium, exfoliation syndrome, sequence analysis, rna
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):26. https://doi.org/10.1167/iovs.63.3.26

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

A novel gelsolin variant associated with Familial Amyloidosis of the Finnish type in an Australian family

Sean Mullany; Emmanuelle Souzeau; Sonja Klebe; Tiger Zhou; Lachlan Knight; Ayub Qassim; Ella Berry; Henry Marshall; Matthew Hussey; Andrew Dubowsky; James Breen; Mark Hassall; Richard A Mills; Jamie E Craig; Owen M Siggs

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1499.

ARVO Annual Meeting Abstract June 2021

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

Lachlan Knight; Jonathan B Ruddle; Deepa A Taranath; Ivan Goldberg; James EH Smith; Glen Gole; Mark Y Chiang; Sean Mullany; James E Elder; Andrea L Vincent; Sandra Staffieri; David A Mackey; Susie Luu; Owen M Siggs; Emmanuelle Souzeau; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1515.

Review May 2021

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

PDF

Ayub Qassim; Emmanuelle Souzeau; Georgie Hollitt; Mark M. Hassall; Owen M. Siggs; Jamie E. Craig
TAGS: genetics, genome-wide association study, myopia, open-angle glaucoma, ophthalmology, stratification, cohort studies, glaucoma, single nucleotide polymorphism, screening
Trans. Vis. Sci. Tech.. 2021; 10(6):14. https://doi.org/10.1167/tvst.10.6.14

Genetics October 2020

SVEP1 as a Genetic Modifier of TEK -Related Primary Congenital Glaucoma

PDF

Terri L. Young; Kristina N. Whisenhunt; Jing Jin; Sarah M. LaMartina; Sean M. Martin; Tomokazu Souma; Vachiranee Limviphuvadh; Fatemeh Suri; Emmanuelle Souzeau; Xue Zhang; Yongwook Dan; Evie Anagnos; Susana Carmona; Nicole M. Jody; Nickie Stangel; Emily C. Higuchi; Samuel J. Huang; Owen M. Siggs; Maria José Simões; Brendan M. Lawson; Jacob S. Martin; Elahe Elahi; Mehrnaz Narooie-Nejad; Behzad Fallahi Motlagh; Susan E. Quaggin; Heather D. Potter; Eduardo D. Silva; Jamie E. Craig; Conceição Egas; Reza Maroofian; Sebastian Maurer-Stroh; Yasmin S. Bradfield; Stuart W. Tompson
TAGS: family, genetics, glaucoma, glaucoma, congenital, mice, pathology, eye, body tissue, alleles, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(12):6. https://doi.org/10.1167/iovs.61.12.6

Includes: Supplemental Content

Genetics March 2017

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

PDF

Tiger Zhou; Emmanuelle Souzeau; Owen M. Siggs; John Landers; Richard Mills; Ivan Goldberg; Paul R. Healey; Stuart Graham; Alex W. Hewitt; David A. Mackey; Anna Galanopoulos; Robert J. Casson; Jonathan B. Ruddle; Jonathan Ellis; Paul Leo; Matthew A. Brown; Stuart MacGregor; Shiwani Sharma; Kathryn P. Burdon; Jamie E. Craig
TAGS: genes, glaucoma, open-angle glaucoma, mutation, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1537-1544. https://doi.org/10.1167/iovs.16-21049

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Mutations in a new gene cause glaucoma with variable onset

Stuart W. J. Tompson; Tomokazu Souma; Owen M. Siggs; Sebastian Maurer-Stroh; Kristina N. Whisenhunt; Janey L Wiggs; Francesca Pasutto; Jamie E Craig; Susan E. Quaggin; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):799.

ARVO Annual Meeting Abstract September 2016

Loss of function variants in a new gene increase risk for primary congenital glaucoma with variable expressivity

Terri L Young; Stuart W. J. Tompson; Benjamin R. Thomson; Owen M. Siggs; Vachiranee Limviphuvadh; Kristina N. Whisenhunt; Janey L Wiggs; Jamie E Craig; Susan E. Quaggin; Francesca Pasutto

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):800.

ARVO Annual Meeting Abstract June 2015

Partial duplication of CRYBB1 as a novel genetic mechanism for autosomal dominant congenital cataract

Owen M. Siggs; Shari Javadiyan; Shiwani Sharma; Kathryn P Burdon; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2518.

ARVO Annual Meeting Abstract June 2015

Genome-wide approach to detecting copy number variation in open angle glaucoma blindness utilizing the Australian and New Zealand Registry of Advanced Glaucoma

Jamie E Craig; Kathryn P Burdon; Tiger Zhou; Owen M. Siggs; Alex W Hewitt; David A Mackey; Puya Gharahkhani; Gabriel Cuellar; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2550.

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