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ARVO Annual Meeting Abstract June 2020

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma, and shows a genetic link to Alzheimer’s disease.

Janey Wiggs; Puya Gharahkhani; Eric Jorgenson; Pirro G Hysi; Anthony Khawaja; Sarah Pendergrass; Xikun Han; David Mackey; Christopher Hammond; Michael A Hauser; Louis R Pasquale; Caroline Klaver; Michiaki Kubo; Tin Aung; Jamie E Craig; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1890. doi:

Genetics July 2019

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

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Adriana I. Iglesias; Jue Sheng Ong; Anthony P. Khawaja; Puya Gharahkhani; Milly S. Tedja; Virginie J. M. Verhoeven; Pieter W. M. Bonnemaijer; Roger C. W. Wolfs; Terri L. Young; Nomdo M. Jansonius; Jamie E. Craig; Dwight Stambolian; Cornelia M. van Duijn; Stuart MacGregor; Caroline C. W. Klaver; for the International Glaucoma Genetics Consortium (IGGC) and Consortium for Refractive Error and Myopia (CREAM)
TAGS: myopia, open-angle glaucoma, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3142-3149. doi: https://doi.org/10.1167/iovs.18-26231

Includes: Supplemental Content

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. doi:

ARVO Annual Meeting Abstract July 2018

Assessing the genetic overlap between myopia and primary open-angle glaucoma

Adriana I Iglesias; Jue Sheng Ong; Puya Gharahkhani; Dwight Stambolian; Caroline C W Klaver; Stuart MacGregor; Cornelia van Duijn

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1827. doi:

Glaucoma February 2018

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

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Jessica N. Cooke Bailey; Puya Gharahkhani; Jae H. Kang; Mariusz Butkiewicz; David A. Sullivan; Robert N. Weinreb; Hugues Aschard; R. Rand Allingham; Allison Ashley-Koch; Richard K. Lee; Sayoko E. Moroi; Murray H. Brilliant; Gadi Wollstein; Joel S. Schuman; John H. Fingert; Donald L. Budenz; Tony Realini; Terry Gaasterland; William K. Scott; Kuldev Singh; Arthur J. Sit; Robert P. Igo, Jr; Yeunjoo E. Song; Lisa Hark; Robert Ritch; Douglas J. Rhee; Douglas Vollrath; Donald J. Zack; Felipe Medeiros; Thasarat S. Vajaranant; Daniel I. Chasman; William G. Christen; Margaret A. Pericak-Vance; Yutao Liu; Peter Kraft; Julia E. Richards; Bernard A. Rosner; Michael A. Hauser; Jamie E. Craig; Kathryn P. Burdon; Alex W. Hewitt; David A. Mackey; Jonathan L. Haines; Stuart MacGregor; Janey L. Wiggs; Louis R. Pasquale; for the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium
TAGS: testosterone, metabolism, polymorphism, glaucoma, genes, open-angle glaucoma, datasets
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. doi: https://doi.org/10.1167/iovs.17-22708

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Discovery of novel loci for primary open angle glaucoma using combined extreme extreme phenotype and QTL approaches.

Jamie E Craig; Puya Gharahkhani; Alex W Hewitt; Kathryn P Burdon; David A Mackey; Stuart L Graham; Paul R Healey; Tiger Zhou; Owen Siggs; Stuart MacGregor

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2135. doi:

ARVO Annual Meeting Abstract June 2017

Association of ANGPT1 with Primary Open Angle Glaucoma

Jessica Cooke Bailey; Puya Gharahkhani; Stuart W Tompson; Tomokazu Souma; Owen Siggs; Terri L Young; Angelo P Tanna; Louis R Pasquale; Susan E Quaggin; Stuart MacGregor; Jamie E Craig; Jonathan L Haines; Janey L. Wiggs

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3822. doi:

Lens December 2015

Potential Modifying Loci Associated With Primary Lens Luxation, Pedal Hyperkeratosis, and Ocular Phenotypes in Miniature Bull Terriers

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Puya Gharahkhani; Caroline A. O'Leary; David L. Duffy; Myat Kyaw-Tanner
TAGS: phenotype, survival analysis, modified blalock-taussig shunt, mutation, dog, domestic, genome, lens, crystalline, lens (device), single nucleotide polymorphism, foot
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8288-8296. doi: https://doi.org/10.1167/iovs.15-18074

Includes: Supplemental Content

Genetics August 2015

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

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Puya Gharahkhani; Kathryn P. Burdon; Alex W. Hewitt; Matthew H. Law; Emmanuelle Souzeau; Grant W. Montgomery; Graham Radford-Smith; David A. Mackey; Jamie E. Craig; Stuart MacGregor
TAGS: myoc gene, open-angle glaucoma, screening, genotype determination, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2015; 56(9):5087-5093. doi: https://doi.org/10.1167/iovs.15-17305

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. doi:

ARVO Annual Meeting Abstract June 2015

Sex-Specific Primary Open-Angle Glaucoma Loci identified in a Meta-analyzed Genome-Wide Imputed Dataset

Jessica Cooke Bailey; Puya Gharahkhani; Louis R Pasquale; Jae H Kang; Jamie E Craig; Stuart MacGregor; Kathryn P Burdon; Jonathan L Haines; Janey L Wiggs; NEIGHBORHOOD Consortium

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3663. doi:

Lens September 2010

An ADAMTS17 Splice Donor Site Mutation in Dogs with Primary Lens Luxation

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Fabiana H. G. Farias; Gary S. Johnson; Jeremy F. Taylor; Elizabeth Giuliano; Martin L. Katz; Douglas N. Sanders; Robert D. Schnabel; Stephanie D. McKay; Shahnawaz Khan; Puya Gharahkhani; Caroline A. O'Leary; Louise Pettitt; Oliver P. Forman; Mike Boursnell; Bryan McLaughlin; Saija Ahonen; Hannes Lohi; Elena Hernandez-Merino; David J. Gould; David R. Sargan; Cathryn Mellersh
TAGS: dog, domestic, donor site, lens (device), lens, crystalline, mutation, genotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(9):4716-4721. doi: https://doi.org/10.1167/iovs.09-5142

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A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma, and shows a genetic link to Alzheimer’s disease.

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

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

Assessing the genetic overlap between myopia and primary open-angle glaucoma

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Discovery of novel loci for primary open angle glaucoma using combined extreme extreme phenotype and QTL approaches.

Association of ANGPT1 with Primary Open Angle Glaucoma

Potential Modifying Loci Associated With Primary Lens Luxation, Pedal Hyperkeratosis, and Ocular Phenotypes in Miniature Bull Terriers

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

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

Sex-Specific Primary Open-Angle Glaucoma Loci identified in a Meta-analyzed Genome-Wide Imputed Dataset

An ADAMTS17 Splice Donor Site Mutation in Dogs with Primary Lens Luxation

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