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ARVO Annual Meeting Abstract June 2024

Evaluating the clinical validity of gene-disease relationships in inherited ocular conditions

Emily Place; Emmanuelle Souzeau; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4654.

ARVO Annual Meeting Abstract June 2024

High glaucoma polygenic risk is strongly associated with development of glaucoma in patients with pseudoexfoliation syndrome

Antonia Kolovos; Ayub Qassim; Mark Hassall; Weixiong He; Henry Marshall; Stuart L Graham; Robert James Casson; Richard A Mills; Stewart Lake; Alex W Hewitt; Kathryn Burdon; Joshua Schmidt; Stuart MacGregor; Emmanuelle Souzeau; Owen Siggs; Jamie Craig

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4058.

ARVO Annual Meeting Abstract June 2023

CNIH4 variants are associated with pigment dispersion syndrome in humans and pigment abnormalities in zebrafish

Shi Song Rong; Anna Larson; John Simmons Borchert; Mark Simcoe; Nicole Weisschuh; Christopher J Hammond; Pirro G Hysi; Robert Ritch; Emmanuelle Souzeau; Jamie E Craig; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4358.

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

ARVO Annual Meeting Abstract June 2022

Quality of life in children and adults with childhood glaucoma: An interview study

Lachlan Knight; Bronwyn Ridge; Sandra E Staffieri; Jamie E Craig; Mallika Prem Senthil; Emmanuelle Souzeau

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1823.

ARVO Annual Meeting Abstract June 2022

The APOE E4 allele is associated with faster rates of mGCIPL thinning in the PROGRESSA cohort

Sean Mullany; Henry Marshall; Emmanuelle Souzeau; Mark Hassall; Ashish Agar; Anna Galanopoulos; John Landers; Paul Mitchell; Paul Healey; Stuart L Graham; Alex W Hewitt; Stuart MacGregor; Puya Gharahkhani; Robert Casson; Owen Siggs; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1658 – A0153.

ARVO Annual Meeting Abstract June 2022

A polygenic risk score predicts functional progression in early primary open-angle glaucoma

Owen Siggs; Ayub Qassim; Xikun Han; Henry Marshall; Sean Mullany; Emmanuelle Souzeau; Anna Galanopoulos; Ashish Agar; John Landers; Robert Casson; Alex W Hewitt; Paul Healey; Stuart L Graham; Stuart MacGregor; Jamie Craig

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4011 – A0353.

Glaucoma March 2022

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

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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

Attitudes toward glaucoma genetic risk assessment among affected individuals

Georgie Hollitt; Jamie E Craig; Emmanuelle Souzeau; Owen Siggs

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1601.

ARVO Annual Meeting Abstract June 2021

Establishing Standardized Criteria to Improve the Interpretation of Genetic Testing for Ocular Disorders

Kristy Lee; Emily Place; Radha Ayyagari; Rui Chen; Kerry Goetz; Robert B Hufnagel; Linda Reis; Susanne Roosing; Emmanuelle Souzeau; Patrick Yu-Wai-Man; Brian Mansfield; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1566.

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.

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.

Review May 2021

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

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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

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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

ARVO Annual Meeting Abstract June 2020

Normal tension glaucoma is associated with cognitive impairment

Sean Mullany; Lewis Xiao; Ayub Qassim; Mark Hassall; owen siggs; Emmanuelle Souzeau; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):243.

ARVO Annual Meeting Abstract June 2020

A polygenic risk score predicts intraocular pressure fluctuation and readings outside office hours as measured by home tonometry

Ayub Qassim; Mona S Awadalla; Sean Mullany; Mark Hassall; owen siggs; Emmanuelle Souzeau; Thi Nguyen; Henry Marshall; Xikun Han; Angela Schulz; Anna Galanopoulos; Stuart L Graham; Alex W Hewitt; Stuart MacGregor; John Landers; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3491.

ARVO Annual Meeting Abstract July 2019

Peripapillary RNFL loss precedes Macular GCIPL loss in glaucoma with lower intraocular pressure.

Henry Nicholas Marshall; Nicholas H Andrew; Emmanuelle Souzeau; Bronwyn Ridge; Jude Fitzgerald; Mona Awadalla; Kathryn P Burdon; Paul Healey; Ashish Agar; Anna Galanopoulos; Alex W Hewitt; Stuart Graham; John Landers; Robert James Casson; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3921.

ARVO Annual Meeting Abstract July 2019

A glaucoma polygenic risk score strongly associated with disease prediction and treatment intensity.

Jamie E Craig; Ayub Qassim; Xikun Han; Mark Hassall; Robert James Casson; Stuart L Graham; David A Mackey; Colin Willoughby; Kathryn P Burdon; John Landers; Emmanuelle Souzeau; Janey L Wiggs; Alex W Hewitt; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1619.

ARVO Annual Meeting Abstract July 2018

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Jamie E. Craig; Alex W. Hewitt; David Mackey; Stuart L Graham; Paul R Healey; Andrew JR White; John Landers; Robert Casson; Emmanuelle Souzeau; Kathryn P Burdon; Puya Gharahkhani; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1177.

Genetics December 2017

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent

PDF

Sionne E. M. Lucas; Tiger Zhou; Nicholas B. Blackburn; Richard A. Mills; Jonathan Ellis; Paul Leo; Emmanuelle Souzeau; Bronwyn Ridge; Jac C. Charlesworth; Matthew A. Brown; Richard Lindsay; Jamie E. Craig; Kathryn P. Burdon
TAGS: cohort studies, keratoconus, genes
Invest. Ophthalmol. Vis. Sci.. 2017; 58(14):6248-6256. https://doi.org/10.1167/iovs.17-22417

Includes: Supplemental Content

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Evaluating the clinical validity of gene-disease relationships in inherited ocular conditions

High glaucoma polygenic risk is strongly associated with development of glaucoma in patients with pseudoexfoliation syndrome

CNIH4 variants are associated with pigment dispersion syndrome in humans and pigment abnormalities in zebrafish

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Quality of life in children and adults with childhood glaucoma: An interview study

The APOE E4 allele is associated with faster rates of mGCIPL thinning in the PROGRESSA cohort

A polygenic risk score predicts functional progression in early primary open-angle glaucoma

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

Attitudes toward glaucoma genetic risk assessment among affected individuals

Establishing Standardized Criteria to Improve the Interpretation of Genetic Testing for Ocular Disorders

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

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

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

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

Normal tension glaucoma is associated with cognitive impairment

A polygenic risk score predicts intraocular pressure fluctuation and readings outside office hours as measured by home tonometry

Peripapillary RNFL loss precedes Macular GCIPL loss in glaucoma with lower intraocular pressure.

A glaucoma polygenic risk score strongly associated with disease prediction and treatment intensity.

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent

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