Journal Articles
Chaurasia, Abadh K., Liu, Guei-Sheung, Greatbatch, Connor J., Gharahkhani, Puya, Craig, Jamie E., Mackey, David A., MacGregor, Stuart and Hewitt, Alex W. (2025). A generalised computer vision model for improved glaucoma screening using fundus images. Eye (Basingstoke), 39 (1), 109-117. doi: 10.1038/s41433-024-03388-4
He, Weixiong, Lee, Samantha Sze-Yee, Diaz Torres, Santiago, Han, Xikun, Gharahkhani, Puya, Hunter, Michael, Balartnasingam, Chandrakumar, Craig, Jamie E., Hewitt, Alex W., Mackey, David A. and MacGregor, Stuart (2024). Predictive power of polygenic risk scores for intraocular pressure or vertical cup-disc ratio. JAMA Ophthalmology, 143 (1), 15-22. doi: 10.1001/jamaophthalmol.2024.4856
Diaz-Torres, Santiago, He, Weixiong, Yu, Regina, IGGC International Glaucoma Genetics Consortium, Han, Xikun, Hamel, Andrew R., Young, Terri L., Lotery, Andrew J., Jorgenson, Eric, Choquet, Hélène, Hauser, Michael, Cooke Bailey, Jessica N., Nakazawa, Toru, Shiga, Yukihiro, Segrè, Ayellet V., Khawaja, Anthony P., Hammond, Christopher J., Hysi, Pirro G., Pasquale, Louis R., Wu, Yeda, Kubo, Michiaki, Akiyama, Masato, Aung, Tin, Cheng, Ching-Yu, Khor, Chiea Chuen, Kraft, Peter, Kang, Jae H., Hewitt, Alex W., Mackey, David A. ... Gharahkhani, Puya (2024). Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma. Nature Communications, 15 (1) 9959, 9959. doi: 10.1038/s41467-024-54301-2
He, Weixiong, Võsa, Urmo, Palumaa, Teele, Ong, Jue-Sheng, Torres, Santiago Diaz, Hewitt, Alex W., Mackey, David A., Gharahkhani, Puya, Esko, Tõnu and MacGregor, Stuart (2024). Developing and validating a comprehensive polygenic risk score to enhance keratoconus risk prediction. Human Molecular Genetics, 34 (2), 140-147. doi: 10.1093/hmg/ddae157
Diaz-Torres, Santiago, Lee, Samantha Sze-Yee, García-Marín, Luis M., Campos, Adrian I., Lingham, Garreth, Ong, Jue-Sheng, Mackey, David A., Burdon, Kathryn P., Hunter, Michael, Dong, Xianjun, MacGregor, Stuart, Gharahkhani, Puya and Rentería, Miguel E. (2024). Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis. Nature Communications, 15 (1) 9116, 1-10. doi: 10.1038/s41467-024-53212-6
Chaurasia, Abadh K., Greatbatch, Connor J., Han, Xikun, Gharahkhani, Puya, Mackey, David A., MacGregor, Stuart, Craig, Jamie E. and Hewitt, Alex W. (2024). Highly accurate and precise automated cup-to-disc ratio quantification for glaucoma screening. Ophthalmology Science, 4 (5) 100540, 1-8. doi: 10.1016/j.xops.2024.100540
Lee, Samantha Sze-Yee, Diaz-Torres, Santiago, He, Weixiong, Yazar, Seyhan, Chan, Elsie, Chong, Elaine W, Gharahkhani, Puya, MacGregor, Stuart, Lingham, Gareth and Mackey, David A (2024). Polygenic prediction of keratoconus and its measures: cross-sectional and longitudinal analyses in community-based young adults. American Journal of Ophthalmology, 265, 248-256. doi: 10.1016/j.ajo.2024.05.009
Diaz-Torres, Santiago, Lee, Samantha Sze-Yee, Ogonowski, Natalia S., Mackey, David A., MacGregor, Stuart, Gharahkhani, Puya and Renteria, Miguel E. (2024). Macular structural integrity estimates are associated with Parkinson’s disease genetic risk. Acta Neuropathologica Communications, 12 (1) 130, 130. doi: 10.1186/s40478-024-01841-9
Lee, Samantha Sze-Yee, Lingham, Gareth, Wang, Carol A., Diaz Torres, Santiago, Pennell, Craig E., Hysi, Pirro G., Hammond, Christopher J., Gharahkhani, Puya, Clark, Rosie, Guggenheim, Jeremy A. and Mackey, David A. (2023). Changes in refractive error during young adulthood: the effects of longitudinal screen time, ocular sun exposure, and genetic predisposition. Investigative Ophthalmology and Visual Science, 64 (14) 28. doi: 10.1167/iovs.64.14.28
Gharahkhani, Puya, He, Weixiong, Diaz Torres, Santiago, Wu, Yeda, Ingold, Nathan, Yu, Regina, Seviiri, Mathias, Ong, Jue-Sheng, Law, Matthew H., Craig, Jamie E., MacKey, David A., Hewitt, Alex W. and MacGregor, Stuart (2023). Study profile: the Genetics of Glaucoma Study. BMJ Open, 13 (8) e068811, e068811. doi: 10.1136/bmjopen-2022-068811
Diaz-Torres, Santiago, He, Weixiong, Thorp, Jackson, Seddighi, Sahba, Mullany, Sean, Hammond, Christopher J., Hysi, Pirro G., Pasquale, Louis R., Khawaja, Anthony P., Hewitt, Alex W., Craig, Jamie E., Mackey, David A., Wiggs, Janey L., van Duijn, Cornelia, Lupton, Michelle K., Ong, Jue-Sheng, MacGregor, Stuart and Gharahkhani, Puya (2023). Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders. eBioMedicine, 92 104615, 1-12. doi: 10.1016/j.ebiom.2023.104615
Gharahkhani, Puya, Burdon, Kathryn P., Cooke Bailey, Jessica N, Hewitt, Alex W., Law, Matthew H., Pasquale, Louis R., Kang, Jae H., Haines, Jonathan L., Souzeau, Emmanuelle, Zhou, Tiger, Siggs, Owen M., Landers, John, Awadalla, Mona, Sharma, Shiwani, Mills, Richard A., Ridge, Bronwyn, Lynn, David, Casson, Robert, Graham, Stuart L., Goldberg, Ivan, White, Andrew, Healey, Paul R., Grigg, John, Lawlor, Mitchell, Mitchell, Paul, Ruddle, Jonathan, Coote, Michael, Walland, Mark, Best, Stephen ... NEIGHBORHOOD consortium (2018). Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Scientific reports, 8 (1) 3124, 3124. doi: 10.1038/s41598-018-20435-9
Ong, Jue-Sheng, Hwang, Liang-Dar, Cuellar-Partida, Gabriel, Martin, Nicholas G., Chenevix-Trench, Georgia, Quinn, Michael C. J., Cornelis, Marilyn C., Gharahkhani, Puya, Webb, Penelope M., MacGregor, Stuart and Ovarian Cancer Association Consortium (2017). Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. International Journal of Epidemiology, 47 (2), 450-459. doi: 10.1093/ije/dyx236
Gharahkhani, Puya, O' Leary, Caroline A., Duffy, David L. and Kyaw-Tanner, Myat (2015). Potential modifying loci associated with primary lens luxation, pedal hyperkeratosis, and ocular phenotypes in miniature bull terriers. Investigative Ophthalmology and Visual Science, 56 (13), 8288-8296. doi: 10.1167/iovs.15-18074
Roque, Joana B., O'Leary, Caroline A., Duffy, David L., Kyaw-Tanner, Myat, Gharahkhani, Puya, Vogelnest, Linda, Mason, Kenneth, Shipstone, Michael and Latter, Melanie (2012). Atopic dermatitis in West Highland white terriers is associated with a 1.3-Mb region on CFA 17. Immunogenetics, 64 (3), 209-217. doi: 10.1007/s00251-011-0577-x
Gharahkhani, Puya, O’Leary, Caroline, Duffy, David, Bernays, Michael and Kyaw-Tanner, Myat (2012). Primary Lens Luxation in Australian Tenterfield and Miniature Bull Terriers is due to an old ADAMTS17 mutation and is an additive trait. The Open Genomics Journal, 5 (1), 7-13. doi: 10.2174/1875693X01205010007
Roque, Joana Barros, O'Leary, Caroline A., Kyaw-Tanner, Myat, Duffy, David L., Gharahkhani, Puya, Vogelnest, Linda, Mason, Kenneth and Shipstone, Michael (2011). PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers. BMC Research Notes, 4 (1) 571, 571.1-571.6. doi: 10.1186/1756-0500-4-571
Gharahkhani, Puya, O’Leary, Caroline A., Kyaw-Tanner, Myat, Sturm, Richard A. and Duffy, David L. (2011). A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. Plos One, 6 (7) e22455, Article number e22455. doi: 10.1371/journal.pone.0022455
Farias, Fabiana H. G., Johnson, Gary S., Taylor, Jeremy F., Giuliano, Elizabeth, Katz, Martin L., Sanders, Douglas N., Schnabel, Robert D., McKay, Stephanie D., Khan, Shahnawaz, Gharahkhani, Puya, O'Leary, Caroline A., Pettitt, Louise, Forman, Oliver P., Boursnell, Mike, McLaughlin, Bryan, Ahonen, Saija, Lohi, Hannes, Hernandez-Merino, Elena, Gould, David J., Sargan, David R. and Mellersh, Cathryn (2010). An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Investigative Ophthalmology & Visual Science, 51 (9), 4716-4721. doi: 10.1167/iovs.09-5142
Thesis
Gharahkhani, Puya (2012). Genetic studies into inherited renal and ocular diseases in dogs. PhD Thesis, School of Veterinary Science, The University of Queensland.