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2025
A generalised computer vision model for improved glaucoma screening using fundus images
Chaurasia, A. K., Liu, G. S., Greatbatch, C. J., Gharahkhani, P., Craig, J. E., Mackey, D. A., MacGregor, S. & Hewitt, A. W., Jan 2025, In: Eye (Basingstoke). 39, 1, p. 109-117 9 p., 1945.Research output: Contribution to journal › Article › peer-review
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A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation
Kolovos, A., Qassim, A., Hassall, M. M., Marshall, H. N., Schmidt, J., Nguyen, T. T., He, W., Mullany, S., Hollitt, G. L., Berry, E. C., Tang, V., Zhou, T., Lake, S., Mills, R., Landers, J., Casson, R. J., Galanopoulos, A., Graham, S. L., Schulz, A. & Healey, P. R. & 13 others, , Aug 2025, In: Ophthalmology. 132, 8, p. 878-887 10 p.Research output: Contribution to journal › Article › peer-review
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Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma
Le, N. Q., He, W., Law, M. H., Medland, S. E., Mackey, D. A., Hewitt, A. W., Gharahkhani, P. & MacGregor, S., Jun 2025, In: American Journal of Ophthalmology. 274, p. 232-240 9 p.Research output: Contribution to journal › Article › peer-review
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Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms
Marzban, M., Diaz-Torres, S., Thorp, J., Ong, J. S., Khawaja, A. P., Hammond, C. J., Hysi, P. G., Pasquale, L. R., Kraft, P., Kang, J. H., Hewitt, A. W., Mackey, D. A., Craig, J. E., Wiggs, J. L., MacGregor, S. & Gharahkhani, P., 15 Nov 2025, In: Human Molecular Genetics. 34, 22, p. 1902-1911 10 p.Research output: Contribution to journal › Article › peer-review
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Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking
LifeLines Cohort Study & Mackey, D. A., 23 Aug 2025, In: Nature Communications. 16, 14 p., 7890.Research output: Contribution to journal › Article › peer-review
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Polygenic Risk Prediction for Normal-Tension Glaucoma
International Glaucoma Genetics Consortium & Mackey, D. A., Jul 2025, In: Investigative Ophthalmology and Visual Science. 66, 9, 8 p., 4.Research output: Contribution to journal › Article › peer-review
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Predictive Power of Polygenic Risk Scores for Intraocular Pressure or Vertical Cup-Disc Ratio
He, W., Lee, S.S.-Y., Diaz Torres, S., Han, X., Gharahkhani, P., Hunter, M., Balartnasingam, C., Craig, J. E., Hewitt, A. W., Mackey, D. A. & MacGregor, S., 16 Jan 2025, In: JAMA Ophthalmology. 143, 1, p. 15-22 8 p.Research output: Contribution to journal › Article › peer-review
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2024
Assessing the Efficacy of Synthetic Optic Disc Images for Detecting Glaucomatous Optic Neuropathy Using Deep Learning
Chaurasia, A. K., MacGregor, S., Craig, J. E., Mackey, D. A. & Hewitt, A. W., Jun 2024, In: Translational vision science & technology. 13, 6, 11 p., 1.Research output: Contribution to journal › Article › peer-review
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Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology
Greatbatch, C. J., Lu, Q., Hung, S., Tran, S. N., Wing, K., Liang, H., Han, X., Zhou, T., Siggs, O. M., Mackey, D. A., Liu, G. S., Cook, A. L., Powell, J. E., Craig, J. E., MacGregor, S. & Hewitt, A. W., Jul 2024, In: Ophthalmology Science. 4, 4, 11 p., 100504.Research output: Contribution to journal › Article › peer-review
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Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma
IGGC International Glaucoma Genetics Consortium & Mackey, D. A., 17 Nov 2024, In: Nature Communications. 15, 9 p., 9959.Research output: Contribution to journal › Article › peer-review
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Genome-Wide Meta-analysis Identifies Risk Loci and Improves Disease Prediction of Age-Related Macular Degeneration
He, W., Han, X., Ong, J. S., Wu, Y., Hewitt, A. W., Mackey, D. A., Gharahkhani, P. & MacGregor, S., Jan 2024, In: Ophthalmology. 131, 1, p. 16-29 14 p.Research output: Contribution to journal › Article › peer-review
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Highly Accurate and Precise Automated Cup-to-Disc Ratio Quantification for Glaucoma Screening
Chaurasia, A. K., Greatbatch, C. J., Han, X., Gharahkhani, P., Mackey, D. A., MacGregor, S., Craig, J. E. & Hewitt, A. W., 1 Sept 2024, In: Ophthalmology Science. 4, 5, 100540.Research output: Contribution to journal › Article › peer-review
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High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma
Greatbatch, C. J., Lu, Q., Hung, S., Barnett, A. J., Wing, K., Liang, H., Han, X., Zhou, T., Siggs, O. M., Mackey, D. A., Cook, A. L., Senabouth, A., Liu, G.-S., Craig, J. E., Macgregor, S., Powell, J. E. & Hewitt, A. W., 1 May 2024, In: Human Molecular Genetics. 33, 9, p. 739-751 13 p.Research output: Contribution to journal › Article › peer-review
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Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
IGGC International Glaucoma Genetics Consortium, 9 Jan 2024, In: Nature Communications. 15, 1, 25 p., 396.Research output: Contribution to journal › Article › peer-review
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Macular structural integrity estimates are associated with Parkinson’s disease genetic risk
Diaz-Torres, S., Lee, S. S. Y., Ogonowski, N. S., Mackey, D. A., MacGregor, S., Gharahkhani, P. & Renteria, M. E., 13 Aug 2024, In: Acta Neuropathologica Communications. 12, 9 p., 130.Research output: Contribution to journal › Article › peer-review
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2023
Cautious recommendations on sleep and eye diseases based on epidemiological findings
Lee, S. S. Y., McArdle, N., Singh, B. & Mackey, D. A., Jul 2023, In: Clinical and Experimental Ophthalmology. 51, 5, p. 496-497 2 p.Research output: Contribution to journal › Letter › peer-review
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Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia
Liu, Q., Davis, J., Han, X., Mackey, D. A., MacGregor, S., Craig, J. E., Si, L. & Hewitt, A. W., Aug 2023, In: Eye. 37, 11, p. 2335-2343 9 p.Research output: Contribution to journal › Article › peer-review
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Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders
IGGC International Glaucoma Genetics Consortium, Jun 2023, In: EBioMedicine. 92, 104615.Research output: Contribution to journal › Article › peer-review
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Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
23andMe Research Team, International Glaucoma Genetics Consortium, Mackey, D. A. & MacGregor, S., Jul 2023, In: Nature Genetics. 55, 7, p. 1116-1125 10 p.Research output: Contribution to journal › Article › peer-review
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2022
Glaucoma – risk factors and current challenges in the diagnosis of a leading cause of visual impairment
Lee, S. S. Y. & Mackey, D. A., Sept 2022, In: Maturitas. 163, p. 15-22 8 p.Research output: Contribution to journal › Review article › peer-review
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Is Genetic Risk for Sleep Apnea Causally Linked With Glaucoma Susceptibility?
Ingold, N., Campos, A. I., Han, X., Ong, J. S., Gharahkhani, P., Mackey, D. A., Rentería, M. E., Law, M. H. & MacGregor, S., 3 Jan 2022, In: Investigative ophthalmology & visual science. 63, 1, 7 p., 25.Research output: Contribution to journal › Article › peer-review
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Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma
Daniszewski, M., Senabouth, A., Liang, H. H., Han, X., Lidgerwood, G. E., Hernández, D., Sivakumaran, P., Clarke, J. E., Lim, S. Y., Lees, J. G., Rooney, L., Gulluyan, L., Souzeau, E., Graham, S. L., Chan, C. L., Nguyen, U., Farbehi, N., Gnanasambandapillai, V., McCloy, R. A. & Clarke, L. & 7 others, , 8 Jun 2022, In: Cell Genomics. 2, 6, 100142.Research output: Contribution to journal › Article › peer-review
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Sleep and eye disease: A review
Lee, S. S. Y., Nilagiri, V. K. & Mackey, D. A., Apr 2022, In: Clinical and Experimental Ophthalmology. 50, 3, p. 334-344 11 p.Research output: Contribution to journal › Review article › peer-review
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Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract
Young, T. L., Whisenhunt, K. N., LaMartina, S. M., Hewitt, A. W., Mackey, D. A. & Tompson, S. W., 1 Jun 2022, In: Investigative ophthalmology & visual science. 63, 6, p. 25 1 p., 25.Research output: Contribution to journal › Article › peer-review
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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel
Burdon, K. P., Graham, P., Hadler, J., Hulleman, J. D., Pasutto, F., Boese, E. A., Craig, J. E., Fingert, J. H., Hewitt, A. W., Siggs, O. M., Whisenhunt, K., Young, T. L., Mackey, D. A., Dubowsky, A. & Souzeau, E., Dec 2022, In: Human Mutation. 43, 12, p. 2170-2186 17 p.Research output: Contribution to journal › Article › peer-review
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2021
Associations of sleep apnoea with glaucoma and age-related macular degeneration: an analysis in the United Kingdom Biobank and the Canadian Longitudinal Study on Aging
Han, X., Lee, S. S. Y., Ingold, N., McArdle, N., Khawaja, A. P., MacGregor, S. & Mackey, D. A., Dec 2021, In: BMC Medicine. 19, 1, 104.Research output: Contribution to journal › Article › peer-review
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Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
Currant, H., Hysi, P., Fitzgerald, T. W., Gharahkhani, P., Bonnemaijer, P. W. M., Senabouth, A., Hewitt, A. W., Atan, D., Aung, T., Charng, J., Choquet, H., Craig, J., Khaw, P. T., Klaver, C. C. W., Kubo, M., Ong, J. S., Pasquale, L. R., Reisman, C. A., Daniszewski, M. & Powell, J. E. & 14 others, , 12 May 2021, In: PLoS Genetics. 17, 5, e1009497.Research output: Contribution to journal › Article › peer-review
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IMI 2021 yearly digest
Jong, M., Jonas, J. B., Wolffsohn, J. S., Berntsen, D. A., Cho, P., Clarkson-Townsend, D., Flitcroft, D. I., Gifford, K. L., Haarman, A. E. G., Pardue, M. T., Richdale, K., Sankaridurg, P., Tedja, M. S., Wildsoet, C. F., Bailey-Wilson, J. E., Guggenheim, J. A., Hammond, C. J., Kaprio, J., MacGregor, S. & Mackey, D. A. & 5 others, , Apr 2021, In: Investigative Ophthalmology and Visual Science. 62, 5, 7.Research output: Contribution to journal › Review article › peer-review
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2020
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
The Consortium for Refractive Error and Myopia, The UK Eye and Vision Consortium & 23andMe Research Team, 1 Apr 2020, In: Nature Genetics. 52, 4, p. 401-407 7 p.Research output: Contribution to journal › Article › peer-review
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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, 1 Feb 2020, In: Nature Genetics. 52, 2, p. 160-166 7 p.Research output: Contribution to journal › Article › peer-review
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2019
Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes
NEIGHBORHOOD Consortium, UK Biobank & International Glaucoma Genetics Consortium, 1 Oct 2019, In: American Journal of Ophthalmology. 206, p. 245-255 11 p.Research output: Contribution to journal › Article › peer-review
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