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Balaratnasingam, C, Morgan, WH, Nelson, J, Mackey, DA, Dimasi, DP and Lam, G 2007 , 'Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma' , Ophthalmic Genetics, vol. 28, no. 3 , pp. 157-162 , doi: https://doi.org/10.1080/13816810701503715.

Bennett, SL, Hewitt, AW, Poulsen, JL, Kearns, LS, Morgan, JE, Craig, JE and Mackey, DA 2007 , 'Screening for Glaucomatous Disc Changes Prior to Diagnosis of Glaucoma in Myocilin Pedifrees' , Archives of Ophthalmology, vol. 125, no. Januar , pp. 112-116 .

Bennett, SL, Hewitt, AW, Poulsen, JL, Kearns, LS, Morgan, JE, Craig, JE and Mackey, DA 2007 , 'Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedifrees' , Archives of Ophthalmology, vol. 125, no. 1 , pp. 112-116 .

Burdon, KP, McKay, JD, Wirth, MG, Russell-Eggit, IM, Bhatti, S, Ruddle, JB, Dimasi, D, Mackey, DA and Craig, JE 2006 , 'The PITX3 gene in posterior polar congenital cataract in Australia' , Molecular Vision, vol. 12 , pp. 367-371 .

Burdon, KP, Sharma, S, Chen, CS, Dimasi, DP, Mackey, DA and Craig, JE 2007 , 'A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site' , Nature, vol. 28, no. 7 , p. 742 .

Bursle, C, Riney, K, Stringer, J, Moore, D, Gole, G, Kearns, LS, Mackey, DA and Coman, D 2017 , 'Leber Hereditary Optic Neuropathy and longitudinally extensive transverse myelitis' , JIMD reports, vol. 42 , pp. 53-60 , doi: https://doi.org/10.1007/8904_2017_79.

Charlesworth, JC, Stankovich, J, Mackey, DA, Craig, JE, Haybittel, M, Westmore, RN and Sale, MM 2006 , 'Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian family' , Ophthalmologica, vol. 220, no. 1 , pp. 23-30 , doi: https://doi.org/10.1159/000089271.

Cohn, AC, Toomes, C, Potter, C, Towns, KV, Hewitt, AW, Inglehearn, CF, Craig, JE and Mackey, DA 2007 , 'Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations' , American Journal of Ophthalmology, vol. 143, no. 4 , pp. 656-662 , doi: https://doi.org/10.1016/j.ajo.2006.12.038.

Cooke Bailey, JN, Gharahkhani, P, Kang, JH, Butkiewicz, M, Sullivan, DA, Weinreb, RN, Aschard, H, Allingham, RR, Ashley-Koch, A, Lee, RK, Moroi, SE, Brilliant, MH, Wollstein, G, Schuman, JS, Fingert, JH, Budenz, DL, Realini, T, Gaasterland, T, Scott, WK, Singh, K, Sit, AJ, Igo Jr, RP, Song, YE, Hark, L, Ritch, R, Rhee, DJ, Vollrath, D, Zack, DJ, Medeiros, F, Vajaranant, TS, Chasman, DI, Christen, WG, Pericak-Vance, MA, Liu, Y, Kraft, P, Richards, JE, Rosner, BA, Hauser, MA, Craig, JE, Burdon, KP ORCID: 0000-0001-8217-1249, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Haines, JL, MacGregor, S, Wiggs, JL and Pasquale, LR 2018 , 'Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: An analysis in two large datasets' , Investigative Ophthalmology and Visual Science, vol. 59, no. 2 , pp. 629-636 , doi: https://doi.org/10.1167/iovs.17-22708.

Craig, JE, Han, X, Qassim, A, Hassall, M, Cooke Bailey, JN, Kinzy, TG, Khawaja, AP, An, J, Marshall, H, Gharahkhani, P, Igo, RP, Graham, SL, Healey, PR, Ong, JS, Zhou, T, Siggs, O, Law, MH, Souzeau, E, Ridge, B, Hysi, PG, Burdon, KP ORCID: 0000-0001-8217-1249, Mills, RA, Landers, J, Ruddle, JB, Agar, A, Galanopoulos, A, White, AJR, Willoughby, CE, Andrew, NH, Best, S, Vincent, AL, Goldberg, I, Radford-Smith, G, Martin, NG, Montgomery, GW, Vitart, V, Hoehn, R, Wojciechowski, R, Jonas, JB, Aung, T, Pasquale, LR, Cree, AJ, Sivaprasad, S, Vallabh, NA, Viswanathan, AC, Pasutto, F, Haines, JL, Klaver, CCW, van Duijn, CM, Casson, RJ, Foster, PJ, Khaw, PT, Hammond, CJ, Mackey, DA, Mitchell, P, Lotery, AJ, Wiggs, JL, Hewitt, AW ORCID: 0000-0002-5123-5999 and MacGregor, S 2020 , 'Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression' , Nature Genetics, vol. 52, no. 2 , pp. 160-166 , doi: https://doi.org/10.1038/s41588-019-0556-y.

Cuellar-Partida, G, Williams, KM, Yazar, S, Guggenheim, JA, Hewitt, AW ORCID: 0000-0002-5123-5999, Williams, C, Wang, JJ, Kho, P-F, Saw, SM, Cheng, C-Y, Wong, TY, Aung, T, Young, TL, Tideman, JWL, Jonas, JB, Mitchell, P, Wojciechowski, R, Stambolian, D, Hysi, P, Hammond, CJ, Mackey, DA, Lucas, RM and MacGregor, S 2017 , 'Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study' , International Journal of Epidemiology, vol. 46, no. 6 , pp. 1882-1890 , doi: https://doi.org/10.1093/ije/dyx068.

Cuellar-Partida, G, Williams, KM, Yazar, S, Guggenheim, JA, Hewitt, AW ORCID: 0000-0002-5123-5999, Williams, C, Wang, JJ, Kho, PF, Saw, SM, Cheng, CY, Wong, TY, Aung, T, Young, TL, Tideman, JWL, Jonas, JB, Mitchell, P, Wojciechowski, R, Stambolian, D, Hysi, P, Hammond, CJ, Mackey, DA, Lucas, RM and MacGregor, S 2017 , 'Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study' , International Journal of Epidemiology, vol. 46, no. 6 , pp. 1882-1890 , doi: https://doi.org/10.1093/ije/dyx068.

Currant, H, Hysi, P, Fitzgerald, TW, Gharahkhani, P, Bonnemaijer, PWM, Senabouth, A, Hewitt, A ORCID: 0000-0002-5123-5999, Atan, D, Aung, T, Charng, J, Choquet, H, Craig, J, Khaw, PT, Klaver, CCW, Kubo, M, Ong, JS, Pasquale, LR, Reisman, CA, Daniszewski, M, Powell, JE, Pebay, A, Simcoe, MJ, Thiadens, AAHJ, van Duijn, CM, Yazar, S, Jorgenson, E, MacGregor, S, Hammond, CJ, Mackey, DA, Wiggs, JL, Foster, PJ, Patel, PJ, Birney, E and Khawaja, AP 2021 , 'Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images' , PLoS Genetics, vol. 17, no. 5 , pp. 1-27 , doi: https://doi.org/10.1371/journal.pgen.1009497.

Currant, H, Hysi, P, Fitzgerald, TW, Gharahkhani, P, Bonnemaijer, PWM, Senabouth, A, Hewitt, A ORCID: 0000-0002-5123-5999, Atan, D, Aung, T, Charng, J, Choquet, H, Craig, J, Khaw, PT, Klaver, CCW, Kubo, M, Ong, JS, Pasquale, LR, Reisman, CA, Daniszewski, M, Powell, JE, Pebay, A, Simcoe, MJ, Thiadens, AAHJ, van Duijn, CM, Yazar, S, Jorgenson, E, MacGregor, S, Hammond, CJ, Mackey, DA, Wiggs, JL, Foster, PJ, Patel, PJ, Birney, E and Khawaja, AP 2021 , 'Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images' , PLoS Genetics, vol. 17, no. 5 , pp. 1-27 , doi: https://doi.org/10.1371/journal.pgen.1009497.

Daniszewski, M, Nguyen, Q, Chy, HS, Singh, V ORCID: 0000-0003-4847-3643, Crombie, DE, Kulkarni, T, Liang, HH, Sivakumaran, P, Lidgerwood, GE, Hernandez, D, Conquest, A, Rooney, LA, Chevalier, S, Andersen, SB, Senabouth, A, Vickers, JC ORCID: 0000-0001-5671-4879, Mackey, DA, Craig, JE, Laslett, AL, Hewitt, AW ORCID: 0000-0002-5123-5999, Powell, JE and Pebay, A 2018 , 'Single-cell profiling identifies key pathways expressed by iPSCs cultured in different commercial media' , iScience, vol. 7 , pp. 30-39 , doi: https://doi.org/10.1016/j.isci.2018.08.016.

Dave, A, Craig, JE, Skrzypiec, K, Quinn, S, Barnes, M, Di Girolamo, N, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249, de Iongh, RU and Sharma, S 2019 , 'Epha2 genotype influences ultraviolet radiation induced cataract in mice' , Experimental Eye Research, vol. 188 , pp. 1-10 , doi: https://doi.org/10.1016/j.exer.2019.107806.

Dave, A, Craig, JE, Skrzypiec, K, Quinn, S, Barnes, M, Di Girolamo, N, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249, de Iongh, RU and Sharma, S 2019 , 'Epha2 genotype influences ultraviolet radiation induced cataract in mice' , Experimental Eye Research, vol. 188 , pp. 1-10 , doi: https://doi.org/10.1016/j.exer.2019.107806.

De Smit, E, Lukowski, SW, Anderson, L, Senabouth, A, Dauyey, K, Song, S, Wyse, B, Wheeler, L, Chen, CY, Cao, K, Wong Ten Yuen, A, Shuey, N, Clarke, L, Lopez Sanchez, I, Hung, SSC, Pebay, A, Mackey, DA, Brown, MA, Hewitt, AW ORCID: 0000-0002-5123-5999 and Powell, JE 2018 , 'Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis' , BMC Medical Genomics, vol. 11, no. 1 , pp. 1-16 , doi: https://doi.org/10.1186/s12920-018-0376-4.

Dickinson, JL, Sale, MM, Passmore, AJ, FitzGerald, LM, Wheatley, CM, Burdon, KP, Craig, JE, Tengtrisorn, S, Carden, SM, Franzco, HM and Mackey, DA 2006 , 'Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity' , Clinical and Experimental Ophthalmology, vol. 34, no. 7 , pp. 682-688 , doi: https://doi.org/10.1111/j.1442-9071.2006.01314.x.

Dimasi, DP, Hewitt, AW, Straga, T, Pater, J, MacKinnon, JR, Elder, JE, Casey, T, Mackey, DA and Craig, JE 2007 , 'Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma' , Clinical Genetics, vol. 72, no. 3 , pp. 255-260 , doi: https://doi.org/10.1111/j.1399-0004.2007.00864.x.

Fan, Q, Pozarickij, A, Tan, NYQ, Guo, X, Verhoeven, VJM, Vitart, V, Guggenheim, JA, Miyake, M, Tideman, JWL, Khawaja, AP, Zhang, L, MacGregor, S, Hohn, R, Chen, P, Biino, G, Wedenoja, J, Saffari, SE, Tedja, MS, Xie, J, Lanca, C, Wang, YX, Sahebjada, S, Mazur, J, Mirshahi, A, Martin, NG, Yazar, S, Pennell, CE, Yap, M, Haarman, AEG, Enthoven, CA, Polling, JR, Hewitt, AW ORCID: 0000-0002-5123-5999, Jaddoe, VWV, van Duijn, CM, Hayward, C, Polasek, O, Tai, E-S, Yoshikatsu, H, Hysi, PG, Young, TL, Tsujikawa, A, Wang, JJ, Mitchell, P, Pfeiffer, N, Parssinen, O, Foster, PJ, Fossarello, M, Yip, SP, Williams, C, Hammond, CJ, Jonas, JB, He, M, Mackey, DA, Wong, T-Y, Klaver, CCW, Saw, S-M, Baird, PN and Cheng, C-Y 2020 , 'Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error' , Communications Biology, vol. 3, no. 1 , pp. 1-14 , doi: https://doi.org/10.1038/s42003-020-0802-y.

Fan, Q, Pozarickij, A, Tan, NYQ, Guo, X, Verhoeven, VJM, Vitart, V, Guggenheim, JA, Miyake, M, Tideman, JWL, Khawaja, AP, Zhang, L, MacGregor, S, Hohn, R, Chen, P, Biino, G, Wedenoja, J, Saffari, SE, Tedja, MS, Xie, J, Lanca, C, Wang, YX, Sahebjada, S, Mazur, J, Mirshahi, A, Martin, NG, Yazar, S, Pennell, CE, Yap, M, Haarman, AEG, Enthoven, CA, Polling, JR, Hewitt, AW ORCID: 0000-0002-5123-5999, Jaddoe, VWV, van Duijn, CM, Hayward, C, Polasek, O, Tai, E-S, Yoshikatsu, H, Hysi, PG, Young, TL, Tsujikawa, A, Wang, JJ, Mitchell, P, Pfeiffer, N, Parssinen, O, Foster, PJ, Fossarello, M, Yip, SP, Williams, C, Hammond, CJ, Jonas, JB, He, M, Mackey, DA, Wong, T-Y, Klaver, CCW, Saw, S-M, Baird, PN and Cheng, C-Y 2020 , 'Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error' , Communications Biology, vol. 3, no. 1 , pp. 1-14 , doi: https://doi.org/10.1038/s42003-020-0802-y.

Fang Kho, P, Lea, RA, Benton, MC, Eccles, D, Haupt, LM, Hewitt, AW ORCID: 0000-0002-5123-5999, Sherwin, JC, Mackey, DA and Griffiths, LR 2018 , 'Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size' , Journal of Human Genetics, vol. 63, no. 1 , pp. 83-87 , doi: https://doi.org/10.1038/s10038-017-0374-y.

Fingert, JH, Alward, WLM, Kwon, YH, Shankar, SP, Andorf, JL, Mackey, DA, Sheffield, VC and Stone, EM 2007 , 'No association between variations in the WDR36 gene and primary open-angle glaucoma' , Archives of Ophthalmology, vol. 28, no. 3 , pp. 434-436 .

FitzGerald, LM, Patterson, B, Thomson, RJ, Polanowski, A, Quinn, SJ, Brohede, J, Thornton, T, Challis, D, Mackey, DA, Dwyer, T, Foote, SJ, Hannan, GN, Stankovich, J, McKay, JD and Dickinson, JL 2009 , 'Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease' , European Journal of Human Genetics, vol. 17, no. 3 , pp. 368-377 , doi: https://doi.org/10.1038/ejhg.2008.171.

Galloway, CA, Dalvi, S, Hung, SSC, MacDonald, LA, Latchney, LR, Wong, RCB, Guymer, RH, Mackey, DA, Williams, DS, Chung, MM, Gamm, DM, Pebay, A, Hewitt, AW ORCID: 0000-0002-5123-5999 and Singh, R 2017 , 'Drusen in patient-derived hiPSC-RPE models of macular dystrophies' , Proceedings of the National Academy of Sciences of The United States of America, vol. 114, no. 39 , E8214-E8223 , doi: https://doi.org/10.1073/pnas.1710430114.

Galloway, CA, Dalvi, S, Hung, SSC, MacDonald, LA, Latchney, LR, Wong, RCB, Guymer, RH, Mackey, DA, Williams, DS, Chung, MM, Gamm, DM, Pebay, A, Hewitt, AW ORCID: 0000-0002-5123-5999 and Singh, R 2017 , 'Drusen in patient-derived hiPSC-RPE models of macular dystrophies' , Proceedings of the National Academy of Sciences, vol. 114, no. 39 , E8214-E8223 , doi: https://doi.org/10.1073/pnas.1710430114.

Gharahkhani, P, Burdon, KP ORCID: 0000-0001-8217-1249, Cooke Bailey, JN, Hewitt, AW ORCID: 0000-0002-5123-5999, Law, MH, Pasquale, LR, Kang, JH, Haines, JL, Souzeau, E, Zhou, T, Siggs, OM, Landers, J, Awadalla, M, Sharma, Shiwani, Mills, RA, Ridge, B, Lynn, D, Casson, R, Graham, SL, Goldberg, I, White, A, Healey, PR, Grigg, J, Lawlor, M, Mitchell, P, Ruddle, J, Coote, M, Walland, M, Best, S, Vincent, A, Gale, J, RadfordSmith, G, Whiteman, DC, Montgomery, GW, Martin, NG, Mackey, DA, Wiggs, JL, MacGregor, S and Craig, JE 2018 , 'Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma' , Scientific Reports, vol. 8, no. 1 , pp. 1-12 , doi: https://doi.org/10.1038/s41598-018-20435-9.

Green, CM, Mackey, DA, Kearns, LS, Wu, J, Barbour, JM, Wilkinson, RM, Ring, M, Craig, JE, Wong, TL and Hewitt, AW 2007 , 'How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania' , Clinical and Experimental Ophthalmology, vol. 35, no. 9 , pp. 793-799 .

Green, CM, Kearns, LS, Wu, F, Barbour, JM, Wilkinson, RM, Ring, M, Craig, JE, Wong, Tiffany L, Hewitt, AW and Mackey, DA 2007 , 'How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania' , Clinical and Experimental Ophthalmology, vol. 35, no. 9 , pp. 793-799 , doi: https://doi.org/10.1111/j.1442-9071.2007.01612.x.

Han, X, Qassim, A, An, J, Marshall, H, Zhou, T, Ong, J-S, Hassall, MM, Hysi, PG, Foster, PJ, Khaw, PT, Mackey, DA, Gharahkhani, P, Khawaja, AP, Hewitt, AW ORCID: 0000-0002-5123-5999, Craig, JE and MacGregor, S 2019 , 'Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology' , Human Molecular Genetics, vol. 28, no. 21 , pp. 3680-3690 , doi: https://doi.org/10.1093/hmg/ddz193.

Han, X, Qassim, A, An, J, Marshall, H, Zhou, T, Ong, J-S, Hassall, MM, Hysi, PG, Foster, PJ, Khaw, PT, Mackey, DA, Gharahkhani, P, Khawaja, AP, Hewitt, AW ORCID: 0000-0002-5123-5999, Craig, JE and MacGregor, S 2019 , 'Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology' , Human Molecular Genetics, vol. 28, no. 21 , pp. 3680-3690 , doi: https://doi.org/10.1093/hmg/ddz193.

Han, X, Souzeau, E, Ong, J-S, An, J, Siggs, OM, Burdon, KP ORCID: 0000-0001-8217-1249, Best, S, Goldberg, I, Healey, PR, Graham, SL, Ruddle, JB, Mills, RA, Landers, J, Galanopoulos, A, White, AJR, Casson, R, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Gharahkhani, P, Craig, JE and MacGregor, S 2018 , 'Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies' , JAMA Ophthalmology , E1-E8 , doi: https://doi.org/10.1001/jamaophthalmol.2018.4477.

Han, X, Souzeau, E, Ong, J-S, An, J, Siggs, OM, Burdon, KP ORCID: 0000-0001-8217-1249, Best, S, Goldberg, I, Healey, PR, Graham, SL, Ruddle, JB, Mills, RA, Landers, J, Galanopoulos, A, White, AJR, Casson, R, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Gharahkhani, P, Craig, JE and MacGregor, S 2018 , 'Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies' , JAMA Ophthalmology , E1-E8 , doi: https://doi.org/10.1001/jamaophthalmol.2018.4477.

Hewitt, AW, Kearns, LS, Jamieson, RV, Williamson, KA, Heyningen, VV and Mackey, DA 2007 , 'PAX6 mutations may be associated with high myopia' , Ophthalmic Genetics, vol. 28, no. 3 , pp. 179-182 .

Hewitt, AW, Bennett, SL, Fingert, JH, Cooper, RL, Stone, EM, Craig, JE and Mackey, DA 2007 , 'The optic nerve head in myocilin glaucoma' , Investigative Ophthalmology & Visual Science, vol. 48, no. 1 , pp. 238-243 , doi: https://doi.org/10.1167/iovs.06-0611.

Hewitt, AW, Garway-Heath, DF, Green, CM, Hammond, CJ, Hayreb, SS, Jonas, JB, Kaufman, PL, Miller, NR, Morgan, WH, Newman, NJ, Quigley, HA, Poulsen, JP, Samples, JR, Spaeth, GL, Pesudovs, K, Mackey, DA, Alward, WLM, Bennett, SL, Budde, WM, Cooper, RL, Craig, JE, Fingert, JH and Foster, PJ 2007 , 'Heritable features of the optic disc: a novel twin method for determining genetic significance' , Investigative Ophthalmology & Visual Science, vol. 48, no. 6 , pp. 2469-2475 , doi: https://doi.org/10.1167/iovs.06-1470.

Hewitt, AW, Heon, E, Craig, JE, Mackey, DA, Bennett, SL, Richards, JE, Dimasi, DP, Booth, AP, Inglehearn, CF, Anwar, R, Yamamoto, T and Fingert, JH 2007 , 'Myocilin Gly252Arg mutation and glaucoma of intermediate severity in caucasioan individuals' , Archives of Ophthalmology, vol. 125, no. 1 , pp. 98-104 .

Hewitt, AW, Mackey, DA and Craig, JE 2007 , 'Myocilin Allele-Specific Glaucoma Phenotype Database' , Human Mutation, vol. 29, no. 2 , pp. 207-211 , doi: https://doi.org/10.1002/humu.20634.

Hewitt, AW, Sundaresan, P, Wiggs, JL, Mackey, DA, Wirtz, MK, Samples, JR, Allingham, RR, Jarvela, I, Kitsos, G, Krishnadas, SR, Richards, JE, Lichter, PR and Petersen, MB 2007 , 'Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds' , Molecular Vision, vol. 13 , pp. 487-492 .

Hewitt, AW, Sharma, Shiwani, Burdon, KP, Wang, JJ, Baird, PN, Dimasi, DP, Mackey, DA, Mitchell, P and Craig, JE 2007 , 'Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people' , Human Molecular Genetics, vol. 17, no. 5 , pp. 710-716 , doi: https://doi.org/10.1093/hmg/ddm342.

Hogarty, DT, Mackey, DA and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Current state and future prospects of artificial intelligence in ophthalmology: a review' , Clinical and Experimental Ophthalmology , pp. 1-29 , doi: https://doi.org/10.1111/ceo.13381.

Hogarty, DT, Mackey, DA and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Current state and future prospects of artificial intelligence in ophthalmology: a review' , Clinical and Experimental Ophthalmology, vol. 47, no. 1 , pp. 128-139 , doi: https://doi.org/10.1111/ceo.13381.

Hysi, PG, Valdes, AM, Liu, F, Furlotte, NA, Evans, DM, Bataille, V, Visconti, A, Hemani, G, McMahon, G, Ring, SM, Smith, GD, Duffy, DL, Zhu, G, Gordon, SD, Medland, SE, Lin, BD, Willemsen, G, Jan Hottenga, J, Vuckovic, D, Girotto, G, Gandin, I, Sala, C, Concas, MP, Brumat, M, Gasparini, P, Toniolo, D, Cocca, M, Robino, A, Yazar, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Chen, Y, Zeng, C, Uitterlinden, AG, Ikram, MA, Hamer, MA, Van Duijn, CM, Nijsten, T, Mackey, DA, Falchi, M, Boomsma, DI, Martin, NG, Hinds, DA, Kayser, M and Spector, TD 2018 , 'Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability' , Nature Genetics, vol. 50, no. 5 , pp. 652-656 , doi: https://doi.org/10.1038/s41588-018-0100-5.

Iglesias, AI, Mishra, A, Vitart, V, Bykhovskaya, Y, Hohn, R, Springelkamp, H, Cuellar-Partida, G, Gharahkhani, P, Bailey, JNC, Willoughby, CE, Li, X, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, van Leeuwen, EM, Taylor, KD, Bonnemaijer, P, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SE ORCID: 0000-0003-0104-5406, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, AG, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW ORCID: 0000-0002-5123-5999, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, CCW, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, C-Y, Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP ORCID: 0000-0001-8217-1249, van Duijn, CM and MacGregor, S 2018 , 'Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases' , Nature Communications, vol. 9, no. 1 , pp. 1-11 , doi: https://doi.org/10.1038/s41467-018-03646-6.

Iglesias, AI, Mishra, A, Vitart, V, Bykhovskaya, Y, Hohn, R, Springelkamp, H, Cuellar-Partida, G, Gharahkhani, P, Cooke Bailey, JN, Willoughby, CE, Li, Xiaohui, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, van Leeuwen, EM, Taylor, KD, Bonnemaijer, P, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SEM ORCID: 0000-0003-0104-5406, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, AG, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW ORCID: 0000-0002-5123-5999, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, CCW, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, CY, Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP ORCID: 0000-0001-8217-1249, van Duijn, CM and MacGregor, S 2018 , 'Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases' , Nature Communications, vol. 9, no. 1 , pp. 1-11 , doi: https://doi.org/10.1038/s41467-018-03646-6.

Iglesias, AI, van der Lee, SJ, Bonnemaijer, PWM, Hohn, R, Nag, A, Gharahkhani, P, Khawaja, AP, Broer, L, Foster, PJ, Hammond, CJ, Hysi, PG, van Leeuwen, EM, MacGregor, S, Mackey, DA, Mazur, J, Nickels, S, Uitterlinden, AG, Klaver, CCW, Amin, N and van Duijn, CM 2017 , 'Haplotype reference consortium panel: Practical implications of imputations with large reference panels' , Human Mutation, vol. 38, no. 8 , pp. 1025-1032 , doi: https://doi.org/10.1002/humu.23247.

Javadiyan, S, Craig, JE, Souzeau, E, Sharma, S, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia' , G3: Genes, Genomes, Genetics, vol. 7, no. 10 , pp. 3257-3268 , doi: https://doi.org/10.1534/g3.117.300109.

Javadiyan, S, Craig, JE, Souzeau, E, Sharma, Shiwani, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia' , G3: Genes, Genomes, Genetics, vol. 7, no. 10 , pp. 3257-3268 , doi: https://doi.org/10.1534/g3.117.300109.

Jones, JL ORCID: 0000-0002-6475-9134, Corbett, MA, Yeaman, E, Zhao, D ORCID: 0000-0003-0137-9529, Gecz, J, Gasperini, RJ ORCID: 0000-0001-6859-1247, Charlesworth, JC ORCID: 0000-0001-6201-3518, Mackey, DA, Elder, JE, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2021 , 'A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract' , European Journal of Human Genetics , doi: https://doi.org/10.1038/s41431-021-00889-8.

Jones, JL ORCID: 0000-0002-6475-9134, Corbett, MA, Yeaman, E, Zhao, D, Gecz, J, Gasperini, RJ ORCID: 0000-0001-6859-1247, Charlesworth, JC ORCID: 0000-0001-6201-3518, Mackey, DA, Elder, JE, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2021 , 'A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract' , European Journal of Human Genetics , doi: https://doi.org/10.1038/s41431-021-00889-8.

Jong, M, Jonas, JB, Wolffsohn, JS, Berntsen, DA, Cho, P, Clarkson-Townsend, D, Flitcroft, DI, Gifford, KL, Haarman, AEG, Pardue, MT, Richdale, K, Sankaridurg, P, Tedja, MS, Wildsoet, CF, Bailey-Wilson, JE, Guggenheim, JA, Hammond, CJ, Kaprio, J, MacGregor, S, Mackey, DA, Musolf, AM, Klaver, CCW, Verhoeven, VJM, Vitart, V and Smith, EL 2021 , 'IMI 2021 yearly digest' , Investigative Ophthalmology and Visual Science, vol. 62, no. 5 , pp. 1-22 , doi: https://doi.org/10.1167/iovs.62.5.7.

Knight, LSW, Ruddle, JB, Taranath, DA, Goldberg, I, Smith, JEH, Gole, G, Chiang, MY, Willett, F, D'Mellow, G, Breen, J, Qassim, A, Mullany, S, Elder, JE, Vincent, AL, Staffieri, SE, Kearns, LS, Mackey, DA, Luu, S, Siggs, OM, Souzeau, E and Craig, JE 2021 , 'Childhood and early onset glaucoma classification and genetic profile in a large Australasian disease registry' , Ophthalmology , pp. 1-12 , doi: https://doi.org/10.1016/j.ophtha.2021.04.016.

Laville, V, Kang, JH, Cousins, CC, Iglesias, AI, Nagy, R, Cooke Bailey, JN, Igo Jr, RP, Song, YE, Chasman, DI, Christen, WG, Kraft, P, Rosner, BA, Hu, F, Wilson, JF, Gharahkhani, P, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Hysi, PG, Hammond, CJ, vanDuijn, CM, Haines, JL, Vitart, V, Fingert, JH, Hauser, MA, Aschard, H, Wiggs, JL, Khawaja, AP, MacGregor, S and Pasquale, LR 2019 , 'Genetic correlations between diabetes and glaucoma: an analysis of continuous and dichotomous phenotypes' , American Journal of Ophthalmology , pp. 1-21 , doi: https://doi.org/10.1016/j.ajo.2019.05.015.

Laville, V, Kang, JH, Cousins, CC, Iglesias, AI, Nagy, R, Cooke Bailey, JN, Igo Jr, RP, Song, YE, Chasman, DI, Christen, WG, Kraft, P, Rosner, BA, Hu, F, Wilson, JF, Gharahkhani, P, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Hysi, PG, Hammond, CJ, vanDuijn, CM, Haines, JL, Vitart, V, Fingert, JH, Hauser, MA, Aschard, H, Wiggs, JL, Khawaja, AP, MacGregor, S and Pasquale, LR 2019 , 'Genetic correlations between diabetes and glaucoma: an analysis of continuous and dichotomous phenotypes' , American Journal of Ophthalmology, vol. 206 , pp. 245-255 , doi: https://doi.org/10.1016/j.ajo.2019.05.015.

Law, MH, Medland, SE, Zhu, G, Yazar, S, Vinuela, A, Wallace, L, Shekar, SN, Duffy, DL, Bataille, V, Glass, D, Spector, TD, Wood, Diane, Gordon, SD, Barbour, JM, Henders, AK, Hewitt, AW ORCID: 0000-0002-5123-5999, Montgomery, GW, Sturm, RA, Mackey, DA, Green, AC, Martin, NG and MacGregor, S 2017 , 'Genome-wide association shows that pigmentation genes play a role in skin aging' , The Journal of Investigative Dermatology, vol. 137, no. 9 , pp. 1887-1894 , doi: https://doi.org/10.1016/j.jid.2017.04.026.

Lee, SS-Y, Sanfilippo, PG, Hunter, M, Yazar, S, James, A and Mackey, DA 2020 , 'Optic disc measures in obstructive sleep apnea: a community-based study of middle-aged and older adults' , Journal of Glaucoma, vol. 29, no. 5 , pp. 337-343 , doi: https://doi.org/10.1097/IJG.0000000000001485.

Lee, SS-Y, Sanfilippo, PG, Hunter, M, Yazar, S, James, A and Mackey, DA 2020 , 'Optic disc measures in obstructive sleep apnea: a community-based study of middle-aged and older adults' , Journal of Glaucoma, vol. 29, no. 5 , pp. 337-343 , doi: https://doi.org/10.1097/IJG.0000000000001485.

Lee, SSY, Beales, DJ, Chen, FK, Yazar, S, Alonso-Caneiro, D and Mackey, DA 2021 , 'Associations between seven-year C-reactive protein trajectory or pack-years smoked with choroidal or retinal thicknesses in young adults' , Scientific Reports, vol. 11, no. 1 , pp. 1-12 , doi: https://doi.org/10.1038/s41598-021-85626-3.

Lee, SSY, Lingham, G, Alonso-Caneiro, D, Charng, J, Chen, FK, Yazar, S and Mackey, DA 2021 , 'Macular thickness profile and its association with best-corrected visual acuity in healthy young adults' , Translational Vision Science and Technology, vol. 10, no. 3 , pp. 1-11 , doi: https://doi.org/10.1167/tvst.10.3.8.

Lee, SSY, Lingham, G, Alonso-Caneiro, D, Chen, FK, Yazar, S, Hewitt, AW ORCID: 0000-0002-5123-5999 and Mackey, DA 2020 , 'Choroidal thickness in young adults and its association with visual acuity' , American Journal of Ophthalmology, vol. 214 , pp. 40-51 , doi: https://doi.org/10.1016/j.ajo.2020.02.012.

Lee, SSY, Mackey, DA, Lingham, G, Crewe, JM, Richards, MD, Chen, FK, Charng, J, Ng, F, Flitcroft, I, Loughman, JJ, Azuara-Blanco, A, Logan, NS, Hammond, CJ, Chia, A, Truong, TT and Clark, A 2020 , 'Western Australia Atropine for the Treatment of Myopia (WA-ATOM) study: Rationale, methodology and participant baseline characteristics' , Clinical and Experimental Ophthalmology, vol. 48 , pp. 569-579 , doi: https://doi.org/10.1111/ceo.13736.

Lee, SSY, McArdle, N, Sanfilippo, PG, Yazar, S, Eastwood, PR, Hewitt, AW ORCID: 0000-0002-5123-5999, Li, Q and Mackey, DA 2019 , 'Associations between optic disc measures and obstructive sleep apnea in young adults' , Ophthalmology , pp. 1-13 , doi: https://doi.org/10.1016/j.ophtha.2019.04.041.

Lee, SSY, McArdle, N, Sanfilippo, PG, Yazar, S, Eastwood, PR, Hewitt, AW ORCID: 0000-0002-5123-5999, Li, Q and Mackey, DA 2019 , 'Associations between optic disc measures and obstructive sleep apnea in young adults' , Ophthalmology, vol. 126, no. 10 , pp. 1372-1384 , doi: https://doi.org/10.1016/j.ophtha.2019.04.041.

Lee, SSY, Yazar, S, Pasquale, LR, Sanfilippo, PG, Hewitt, AW ORCID: 0000-0002-5123-5999, Hickey, M, Skinner, R and Mackey, DA 2018 , 'The relationship between optic disc parameters and female reproductive factors in young women' , Asia-Pacific Journal of Ophthalmology , pp. 1-5 , doi: https://doi.org/10.22608/APO.2018329.

Lee, SSY, Yazar, S, Pasquale, LR, Sanfilippo, PG, Hewitt, AW ORCID: 0000-0002-5123-5999, Hickey, M, Skinner, R and Mackey, DA 2018 , 'The relationship between optic disc parameters and female reproductive factors in young women' , Asia-Pacific Journal of Ophthalmology , pp. 1-5 , doi: https://doi.org/10.22608/APO.2018329.

Lingham, G, Yazar, S, Lucas, RM, Milne, E, Hewitt, AW ORCID: 0000-0002-5123-5999, Hammond, CJ, MacGregor, S, Rose, KA, Chen, FK, He, M, Guggenheim, JA, Clarke, MW, Saw, SM, Williams, C, Coroneo, MT, Straker, L and Mackey, DA 2021 , 'Time spent outdoors in childhood is associated with reduced risk of myopia as an adult' , Scientific Reports, vol. 11, no. 1 , pp. 1-11 , doi: https://doi.org/10.1038/s41598-021-85825-y.

Lopez Sanchez, MIG, Van Bergen, NJ, Kearns, LS, Ziemann, M, Liang, H, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA and Trounce, IA 2020 , 'OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy' , Mitochondrion, vol. 54 , pp. 113-121 , doi: https://doi.org/10.1016/j.mito.2020.07.003.

Lopez Sanchez, MIG, Van Bergen, NJ, Kearns, LS, Ziemann, M, Liang, H, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA and Trounce, IA 2020 , 'OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy' , Mitochondrion, vol. 54 , pp. 113-121 , doi: https://doi.org/10.1016/j.mito.2020.07.003.

MacGregor, S, Ong, J-S, An, J, Han, X, Zhou, T, Siggs, OM, Law, MH, Souzeau, E, Sharma, S, Lynn, DJ, Beesley, J, Sheldrick, B, Mills, RA, Landers, J, Ruddle, JB, Graham, SL, Healey, PR, White, AJR, Casson, RJ, Best, S, Grigg, JR, Goldberg, I, Powell, JE, Whiteman, DC, Radford-Smith, GL, Martin, NG, Montgomery, GW, Burdon, KP ORCID: 0000-0001-8217-1249, Mackey, DA, Gharahkhani, P, Craig, JE and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma' , Nature Genetics, vol. 50, no. 8 , pp. 1067-1071 , doi: https://doi.org/10.1038/s41588-018-0176-y.

MacGregor, S, Ong, J-S, An, J, Han, X, Zhou, T, Siggs, OM, Law, MH, Souzeau, E, Sharma, Shiwani, Lynn, DJ, Beesley, J, Sheldrick, B, Mills, RA, Landers, J, Ruddle, JB, Graham, SL, Healey, PR, White, AJR, Casson, RJ, Best, S, Grigg, JR, Goldberg, I, Powell, JE, Whiteman, DC, Radford-Smith, GL, Martin, NG, Montgomery, GW, Burdon, KP ORCID: 0000-0001-8217-1249, Mackey, DA, Gharahkhani, P, Craig, JE and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma' , Nature Genetics, vol. 50, no. 8 , pp. 1067-1071 , doi: https://doi.org/10.1038/s41588-018-0176-y.

Mackey, DA 2007 , 'Central corneal thickness and glaucoma in the Australian Aboriginal population' , Clinical and Experimental Ophthalmology, vol. 35, no. -- , pp. 691-692 .

Matovinovic, E, Kho, PF, Lea, RA, Benton, MC, Eccles, DA, Haupt, LM, Hewitt, AW ORCID: 0000-0002-5123-5999, Sherwin, JC, Mackey, DA and Griffiths, LR 2017 , 'Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate' , Molecular Vision, vol. 23 , pp. 660-665 .

Matovinovic, E, Kho, PF, Lea, RA, Benton, MC, Eccles, DA, Haupt, LM, Hewitt, AW ORCID: 0000-0002-5123-5999, Sherwin, JC, Mackey, DA and Griffiths, LR 2017 , 'Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate' , Molecular Vision, vol. 23 , pp. 660-665 .

McComish, BJ ORCID: 0000-0003-1940-0007, Sahebjada, S, Bykhovskaya, Y, Willoughby, CE, Richardson, AJ, Tenen, A, Charlesworth, JC ORCID: 0000-0001-6201-3518, MacGregor, S, Mitchell, P, Lucas, SEM ORCID: 0000-0003-0104-5406, Mills, RA, Mackey, DA, Li, X, Wang, JJ, Jensen, RA, Rotter, JI, Taylor, KD, Hewitt, AW ORCID: 0000-0002-5123-5999, Rabinowitz, YS, Baird, PN, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2019 , 'Association of genetic variation with keratoconus' , JAMA Ophthalmology , pp. 1-8 , doi: https://doi.org/10.1001/jamaophthalmol.2019.5293.

Ng, FJ, Mackey, DA, O'Sullivan, TA, Oddy, WH ORCID: 0000-0002-6119-7017 and Yazar, S 2020 , 'Is dietary vitamin A associated with myopia from adolescence to young adulthood?' , Translational Vision Science & Technology, vol. 9, no. 6 , pp. 1-11 , doi: https://doi.org/10.1167/tvst.9.6.29.

Nicol, D ORCID: 0000-0002-6553-2839, Eckstein, L ORCID: 0000-0002-7161-7521, Morrison, M, Sherkow, JS, Otlowski, M ORCID: 0000-0003-4707-4325, Whitton, T, Bubela, T, Burdon, KP ORCID: 0000-0001-8217-1249, Chalmers, D ORCID: 0000-0002-7925-8818, Chan, S, Charlesworth, J ORCID: 0000-0001-6201-3518, Critchley, C, Crossley, M, de Lacey, S, Dickinson, JL ORCID: 0000-0003-4621-1703, Hewitt, AW ORCID: 0000-0002-5123-5999, Kamens, J, Kato, K, Kleiderman, E, Kodama, S, Liddicoat, J, Mackey, DA, Newson, AJ, Nielsen, J ORCID: 0000-0002-3005-0047, Wagner, JK and McWhirter, RE ORCID: 0000-0002-9409-8074 2017 , 'Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic' , Genome Medicine, vol. 9, no. 1 , pp. 1-4 , doi: https://doi.org/10.1186/s13073-017-0475-4.

Ponsonby, AL, Brown, SA, Kearns, LS, MacKinnon, JR, Scotter, LW, Cochrane, JA and Mackey, DA 2007 , 'The Association Between Maternal Smoking in Pregnancy, Other Early Life Characteristics and Childhood Vision: The Twins Eye Study in Tasmania' , Ophthalmic Epidemiology, vol. 14, no. Nov - Dec 2007 , pp. 351-359 .

Ponsonby, AL, Brown, SA, Kearns, LS, MacKinnon, JR, Scotter, LW, Cochrane, JA and Mackey, DA 2007 , 'The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: the twins eye study in Tasmania' , Ophthalmic Epidemiology, vol. 14, no. Nov-De , pp. 351-359 , doi: https://doi.org/10.1080/01658100701486467.

Ponsonby, AL, Brown, SA, Kearns, LS, MacKinnon, JR, Scotter, LW, Cochrane, JA and Mackey, DA 2007 , 'The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: The twins eye study in Tasmania' , Ophthalmic Epidemiology, vol. 14, no. 6 , pp. 351-359 , doi: https://doi.org/10.1080/01658100701486467.

Shaaban, S, MacKinnon, S, Andrews, C, Staffieri, SE, Maconachie, GDE, Chan, W-M, Whitman, MC, Morton, SU, Yazar, S, MacGregor, S, Elder, JE, Traboulsi, EI, Gottlob, I, Hewitt, AW ORCID: 0000-0002-5123-5999, Hunter, DG, Mackey, DA and Engle, EC 2018 , 'Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect' , Investigative Ophthalmology & Visual Science, vol. 59, no. 10 , pp. 4054-4064 , doi: https://doi.org/10.1167/iovs.18-24082.

Shaaban, S, MacKinnon, S, Andrews, C, Staffieri, SE, Maconachie, GDE, Chan, W-M, Whitman, MC, Morton, SU, Yazar, S, MacGregor, S, Elder, JE, Traboulsi, EI, Gottlob, I, Hewitt, AW ORCID: 0000-0002-5123-5999, Hunter, DG, Mackey, DA and Engle, EC 2018 , 'Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect' , Investigative Ophthalmology & Visual Science, vol. 59, no. 10 , pp. 4054-4064 , doi: https://doi.org/10.1167/iovs.18-24082.

Shiga, Y, Akiyama, M, Nishiguchi, KM, Sato, K, Shimozawa, N, Takahashi, A, Momozawa, Y, Hirata, M, Matsuda, K, Yamaji, T, Iwasaki, M, Tsugane, S, Oze, I, Mikami, H, Naito, M, Wakai, K, Yoshikawa, M, Miyake, M, Yamashiro, K, Kashiwagi, K, Iwata, T, Mabuchi, F, Takamoto, M, Ozaki, M, Kawase, K, Aihara, M, Araie, M, Yamamoto, T, Kiuchi, Y, Nakamura, M, Ikeda, Y, Sonoda, KH, Ishibashi, T, Nitta, K, Iwase, A, Shirato, S, Oka, Y, Satoh, M, Sasaki, M, Fuse, N, Suzuki, Y, Cheng, CY, Khor, CC, Baskaran, M, Perera, S, Aung, T, Vithana, EN, Cooke Bailey, JN, Kang, JH, Pasquale, LR, Haines, JL, Wiggs, JL, Burdon, KP ORCID: 0000-0001-8217-1249, Gharahkhani, P, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, MacGregor, S, Craig, JE, Allingham, RR, Hauser, M, Ashaye, A, Budenz, DL, Akafo, S, Williams, SEI, Kamatani, Y, Nakazawa, T and Kubo, M 2018 , 'Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma' , Human Molecular Genetics, vol. 27, no. 8 , 1486–1496 , doi: https://doi.org/10.1093/hmg/ddy053.

Siggs, OM, Han, X, Qassim, A, Souzeau, E, Kuruvilla, S, Marshall, HN, Mullany, S, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Gharahkhani, P, MacGregor, S and Craig, JE 2021 , 'Association of monogenic and polygenic risk with the prevalence of open-angle glaucoma' , JAMA Ophthalmology, vol. 139, no. 9 , pp. 1023-1028 , doi: https://doi.org/10.1001/jamaophthalmol.2021.2440.

Siggs, OM, Han, X, Qassim, A, Souzeau, E, Kuruvilla, S, Marshall, HN, Mullany, S, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Gharahkhani, P, MacGregor, S and Craig, JE 2021 , 'Association of monogenic and polygenic risk with the prevalence of open-angle glaucoma' , JAMA Ophthalmology, vol. 139, no. 9 , pp. 1023-1028 , doi: https://doi.org/10.1001/jamaophthalmol.2021.2440.

Siggs, OM, Souzeau, E, Pasutto, F, Dubowsky, A, Smith, JEH, Taranath, D, Pater, J, Rait, JL, Narita, A, Mauri, L, Del Longo, A, Reis, A, Chappell, A, Kearns, LS, Staffieri, SE, Elder, JE, Ruddle, JB, Hewitt, AW ORCID: 0000-0002-5123-5999, Burdon, KP ORCID: 0000-0001-8217-1249, Mackey, DA and Craig, JE 2019 , 'Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma' , JAMA Ophthalmology, no. Januar , E1-E8 , doi: https://doi.org/10.1001/jamaophthalmol.2018.5646.

Siggs, OM, Souzeau, E, Taranath, DA, Dubowsky, A, Chappell, A, Zhou, T, Javadiyan, S, Nicholl, J, Kearns, LS, Staffieri, SE, Narita, A, Smith, JEH, Pater, J, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Elder, JE, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2020 , 'Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma' , Ophthalmology, vol. 127, no. 6 , pp. 758-766 , doi: https://doi.org/10.1016/j.ophtha.2019.12.024.

Simcoe, M, Valdes, A, Liu, F, Furlotte, NA, Evans, DM, Hemani, G, Ring, SM, Smith, GD, Duffy, DL, Zhu, G, Gordon, SD, Medland, SE, Vuckovic, D, Girotto, G, Sala, C, Catamo, E, Concas, MP, Brumat, M, Gasparini, P, Toniolo, D, Cocca, M, Robino, A, Yazar, S, Hewitt, A ORCID: 0000-0002-5123-5999, Wu, W, Kraft, P, Hammond, CJ, Shi, Y, Chen, Y, Zeng, C, Klaver, CCW, Uitterlinden, AG, Ikram, MA, Hamer, MA, van Duijn, CM, Nijsten, T, Han, J, Mackey, DA, Martin, NG, Cheng, CY, Hinds, DA, Spector, TD, Kayser, M and Hysi, PG 2021 , 'Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color' , Science Advances, vol. 7, no. 11 , pp. 1-11 , doi: https://doi.org/10.1126/sciadv.abd1239.

Simcoe, M, Valdes, A, Liu, F, Furlotte, NA, Evans, DM, Hemani, G, Ring, SM, Smith, GD, Duffy, DL, Zhu, G, Gordon, SD, Medland, SE, Vuckovic, D, Girotto, G, Sala, C, Catamo, E, Concas, MP, Brumat, M, Gasparini, P, Toniolo, D, Cocca, M, Robino, A, Yazar, S, Hewitt, A ORCID: 0000-0002-5123-5999, Wu, W, Kraft, P, Hammond, CJ, Shi, Y, Chen, Y, Zeng, C, Klaver, CCW, Uitterlinden, AG, Ikram, MA, Hamer, MA, van Duijn, CM, Nijsten, T, Han, J, Mackey, DA, Martin, NG, Cheng, CY, Hinds, DA, Spector, TD, Kayser, M and Hysi, PG 2021 , 'Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color' , Science Advances, vol. 7, no. 11 , pp. 1-11 , doi: https://doi.org/10.1126/sciadv.abd1239.

Singh, LN, Crowston, JG, Lopez Sanchez, MIG, Van Bergen, NJ, Kearns, LS, Hewitt, AW ORCID: 0000-0002-5123-5999, Yazar, S, Mackey, DA, Wallace, DC and Trounce, IA 2018 , 'Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma' , Investigative Ophthalmology & Visual Science, vol. 59, no. 11 , pp. 4598-4602 , doi: https://doi.org/10.1167/iovs.18-25085.

Singh, LN, Crowston, JG, Lopez Sanchez, MIG, Van Bergen, NJ, Kearns, LS, Hewitt, AW ORCID: 0000-0002-5123-5999, Yazar, S, Mackey, DA, Wallace, DC and Trounce, IA 2018 , 'Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma' , Investigative Ophthalmology and Visual Science, vol. 59, no. 11 , pp. 4598-4602 , doi: https://doi.org/10.1167/iovs.18-25085.

Souzeau, E, Siggs, OM, Zhou, T, Galanopoulos, A, Hodson, T, Taranath, D, Mills, RA, Landers, J, Pater, J, Smith, JE, Elder, JE, Rait, JL, Giles, P, Phakey, V, Staffieri, SE, Kearns, LS, Dubowsky, A, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants' , European Journal of Human Genetics, vol. 25, no. 7 , pp. 839-847 , doi: https://doi.org/10.1038/ejhg.2017.59.

Souzeau, E, Siggs, OM, Zhou, T, Galanopoulos, A, Hodson, T, Taranath, D, Mills, RA, Landers, J, Pater, J, Smith, JE, Elder, JE, Rait, JL, Giles, P, Phakey, V, Staffieri, SE, Kearns, LS, Dubowsky, A, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants' , European Journal of Human Genetics, vol. 25, no. 7 , pp. 839-847 , doi: https://doi.org/10.1038/ejhg.2017.59.

Souzeau, E, Tram, KH, Witney, M, Ruddle, JB, Graham, SL, Healey, PR, Goldberg, I, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals' , Ophthalmology, vol. 124, no. 3 , pp. 303-309 , doi: https://doi.org/10.1016/j.ophtha.2016.11.011.

Souzeau, E, Tram, KH, Witney, M, Ruddle, JB, Graham, SL, Healey, PR, Goldberg, I, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals' , Ophthalmology, vol. 124, no. 3 , pp. 303-309 , doi: https://doi.org/10.1016/j.ophtha.2016.11.011.

Springelkamp, H, Iglesias, AI, Mishra, A, Hohn, R, Wojciechowski, R, Khawaja, AP, Nag, A, Wang, YX, Wang, JJ, Cuellar-Partida, G, Gibson, J, Cooke Bailey, JN, Vithana, EN, Gharahkhani, P, Boutin, T, Ramdas, WD, Zeller, T, Luben, RN, Yonova-Doing, E, Viswanathan, AC, Yazar, S, Cree, AJ, Haines, JL, Koh, JY, Souzeau, E, Wilson, JF, Amin, N, Muller, C, Venturini, C, Kearns, LS, Kang, JH, Tham, YC, Zhou, T, van Leeuwen, EM, Nickels, S, Sanfilippo, P, Liao, J, van der Linde, H, Zhao, W, van Koolwijk, LME, Zheng, L, Rivadeneira, F, Baskaran, M, van der Lee, SJ, Perera, S, de Jong, PTVM, Oostra, BA, Uitterlinden, AG, Fan, Q, Hofman, A, Tai, ES, Vingerling, JR, Sim, X, Wolfs, RCW, Teo, YY, Lemij, HG, Khor, CC, Willemsen, R, Lackner, KJ, Aung, T, Jansonius, NM, Montgomery, G, Wild, PS, Young, TL, Burdon, KP ORCID: 0000-0001-8217-1249, Hysi, PG, Pasquale, LR, Wong, TY, Klaver, CCW, Hewitt, AW ORCID: 0000-0002-5123-5999, Jonas, JB, Mitchell, P, Lotery, AJ, Foster, PJ, Vitart, V, Pfeiffer, N, Craig, JE, Mackey, DA, Hammond, CJ, Wiggs, JL, Cheng, CY, van Duijn, CM and MacGregor, S 2017 , 'New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics' , Human Molecular Genetics, vol. 26, no. 2 , pp. 438-453 , doi: https://doi.org/10.1093/hmg/ddw399.

Springelkamp, H, Iglesias, AI, Mishra, A, Hohn, R, Wojciechowski, R, Khawaja, AP, Nag, A, Wang, YX, Wang, JJ, Cuellar-Partida, G, Gibson, J, Cooke Bailey, JN, Vithana, EN, Gharahkhani, P, Boutin, T, Ramdas, WD, Zeller, T, Luben, RN, Yonova-Doing, E, Viswanathan, AC, Yazar, S, Cree, AJ, Haines, JL, Koh, JY, Souzeau, E, Wilson, JF, Amin, N, Muller, C, Venturini, C, Kearns, LS, Kang, JH, Tham, YC, Zhou, T, van Leeuwen, EM, Nickels, S, Sanfilippo, P, Liao, J, van der Linde, H, Zhao, W, van Koolwijk, LME, Zheng, L, Rivadeneira, F, Baskaran, M, van der Lee, SJ, Perera, S, de Jong, PTVM, Oostra, BA, Uitterlinden, AG, Fan, Q, Hofman, A, Tai, E-S, Vingerling, JR, Sim, X, Wolfs, RCW, Teo, YY, Lemij, HG, Khor, CC, Willemsen, R, Lackner, KJ, Aung, T, Jansonius, NM, Montgomery, G, Wild, PS, Young, TL, Burdon, KP ORCID: 0000-0001-8217-1249, Hysi, PG, Pasquale, LR, Wong, TY, Klaver, CCW, Hewitt, AW ORCID: 0000-0002-5123-5999, Jonas, JB, Mitchell, P, Lotery, AJ, Foster, PJ, Vitart, V, Pfeiffer, N, Craig, JE, Mackey, DA, Hammond, CJ, Wiggs, JL, Cheng, C-Y, van Duijn, CM and MacGregor, S 2017 , 'New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics' , Human Molecular Genetics, vol. 26, no. 2 , pp. 438-453 , doi: https://doi.org/10.1093/hmg/ddw399.

Staffieri, SE, Kearns, LS, Sanfilippo, PG, Craig, JE, Mackey, DA and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Crowd-sourced ontology for photoleukocoria: Identifying common internet search terms for a potentially important pediatric ophthalmic sign' , Translational Vision Science and Technology, vol. 7, no. 1 , pp. 1-9 , doi: https://doi.org/10.1167/tvst.7.1.18.

Staffieri, SE, Kearns, LS, Sanfilippo, PG, Craig, JE, Mackey, DA and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Crowd-sourced ontology for photoleukocoria: Identifying common internet search terms for a potentially important pediatric ophthalmic sign' , Translational Vision Science and Technology, vol. 7, no. 1 , pp. 1-9 , doi: https://doi.org/10.1167/tvst.7.1.18.

Staffieri, SE, Rees, G, Sanfilippo, PG, Cole, S, Mackey, DA and Hewitt, AW ORCID: 0000-0002-5123-5999 2020 , 'Improving parents' knowledge of early signs of paediatric eye disease: a double-blind randomized controlled trial' , Clinical and Experimental Ophthalmology , pp. 1-11 , doi: https://doi.org/10.1111/ceo.13866.

Symons, RCA, Turakulov, R, Foote, SJ, Craig, JE, McCartney, PJ and Mackey, DA 2007 , 'No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma' , Ophthalmic Genetics, vol. 28, no. 1 , pp. 39-41 .

Symons, RCA, Turakulov, R, Foote, SJ, Craig, JE, McCartney, PJ and Mackey, DA 2007 , 'No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma' , Ophthalmic Genetics, vol. 28, no. 1 , pp. 39-41 .

Symons, RCA, Turakulov, R, Foote, SJ, Craig, JE, McCartney, PJ and Mackey, DA 2007 , 'No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma' , Ophthalmic Genetics, vol. 28, no. 1 , pp. 39-41 , doi: https://doi.org/10.1080/13816810701201971.

Tedja, MS, Haarman, AEG, Meester-Smoor, MA, Kaprio, J, Mackey, DA, Guggenheim, JA, Hammond, CJ, Verhoeven, VJM and Klaver, CCW 2019 , 'IMI- Myopia genetics report' , Investigative Ophthalmology & Visual Science, vol. 60, no. 3 , M89-M105 , doi: https://doi.org/10.1167/iovs.18-25965.

Tedja, MS, Wojciechowski, R, Hysi, PG, Eriksson, N, Furlotte, NA, Verhoeven, VJM, Iglesias, AI, Meester-Smoor, MA, Tompson, SW, Fan, Q, Khawaja, AP, Cheng, CY, Hohn, R, Yamashiro, K, Wenocur, A, Grazal, C, Haller, T, Metspalu, A, Wedenoja, J, Jonas, JB, Wang, YX, Xie, J, Mitchell, P, Foster, PJ, Klein, BEK, Klein, R, Paterson, AD, Hosseini, SM, Shah, RL, Williams, C, Teo, YY, Tham, YC, Gupta, P, Zhao, W, Shi, Y, Saw, WY, Tai, ES, Sim, XL, Huffman, JE, Polasek, O, Hayward, C, Bencic, G, Rudan, I, Wilson, JF, Joshi, PK, Tsujikawa, A, Matsuda, F, Whisenhunt, KN, van der Spek, P, Haak, R, Meijers-Heijboer, H, van Leeuwen, EM, Iyengar, SK, Lass, JH, Hoffman, A, Rivadeneira, F, Uitterlinden, AG, V, JR, Lehtimaki, T, Raitakari, OT, Biino, G, Concas, MP, Haarman, AEG, Schwantes-An, TH, Igo JR, RP, Cuellar-Partida, G, Jhanji, V, Martin, NG, Craig, JE, Gharahkhani, P, Williams, KM, Nag, A, Rahi, JS, Cumberland, PM, Delcourt, C, Bellenguez, C, Ried, JS, Bergen, AA, Meitinger, T, Gieger, C, Wong, TY, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Simpson, NP, Parssinen, O, Baird, PN, Vitart, Vi, Amin, N, van Duijn, CM, Bailey-Wilson, JE, Saw, SM, Stambolian, D, MacGregor, S, Guggenheim, JA, Tung, JY, Hammond, CJ and Klaver, CWC 2018 , 'Genome wide association meta analysis highlights light induced signaling as a driver for refractive error' , Nature Genetics, vol. 50, no. 6 , pp. 834-848 , doi: https://doi.org/10.1038/s41588-018-0127-7.

Thomson, BR, Souma, T, Tompson, SW, Onay, T, Kizhatil, K, Siggs, OM, Feng, L, Whisenhunt, KN, Yanovitch, TL, Kalaydjieva, L, Azmanov, DN, Finzi, S, Tanna, CE, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Bradfield, YS, Souzeau, E, Javadiyan, S, Wiggs, JL, Pasutto, F, Liu, X, John, SWM, Craig, JE, Jin, J, Young, TL and Quaggin, SE 2017 , 'Angiopoietin-1 is required for Schlemm's canal development in mice and humans' , Journal of Clinical Investigation , pp. 1-16 , doi: https://doi.org/10.1172/JCI95545.

Thomson, BR, Souma, T, Tompson, SW, Onay, T, Kizhatil, K, Siggs, OM, Feng, L, Whisenhunt, KN, Yanovitch, TL, Kalaydjieva, L, Azmanov, DN, Finzi, S, Tanna, CE, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Bradfield, YS, Souzeau, E, Javadiyan, S, Wiggs, JL, Pasutto, F, Liu, X, John, SWM, Craig, JE, Jin, J, Young, TL and Quaggin, SE 2017 , 'Angiopoietin-1 is required for Schlemm's canal development in mice and humans' , Journal of Clinical Investigation, vol. 127, no. 12 , pp. 4421-4436 , doi: https://doi.org/10.1172/JCI95545.

Whitman, MC, Di Gioia, SA, Chan, W-M, Gelber, A, Pratt, BM, Bell, JL, Collins, TE, Knowles, JA, Armoskus, C, Pato, M, Pato, C, Shaaban, S, Staffieri, S, MacKinnon, S, Maconachie, GDE, Elder, JE, Traboulsi, EI, Gottlob, I, Mackey, DA, Hunter, DG and Engle, EC 2020 , 'Recurrent rare copy number variants increase risk for esotropia' , Investigative Ophthalmology & Visual Science, vol. 61, no. 10 , pp. 1-11 , doi: https://doi.org/10.1167/iovs.61.10.22.

Wong, RCB, Lim, SY, Hung, SSC, Jackson, S, Khan, Shahnaz, Van Bergen, NJ, De Smit, E, Liang, HH, Kearns, LS, Clarke, L, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Trounce, IA and Pebay, A 2017 , 'Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy' , Aging, vol. 9, no. 4 , pp. 1341-1350 , doi: https://doi.org/10.18632/aging.101231.

Zhou, T, Souzeau, E, Sharma, Shiwani, Landers, J, Mills, R, Goldberg, I, Healey, PR, Graham, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Galanopoulos, A, Casson, RJ, Ruddle, JB, Ellis, J, Leo, P, Brown, MA, MacGregor, S, Lynn, DJ, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma' , PLoS ONE, vol. 12, no. 3 , pp. 1-18 , doi: https://doi.org/10.1371/journal.pone.0172427.

Zhou, T, Souzeau, E, Siggs, OM, Landers, J, Mills, R, Goldberg, I, Healey, PR, Graham, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Galanopoulos, A, Casson, RJ, Ruddle, JB, Ellis, J, Leo, P, Brown, MA, MacGregor, S, Sharma, S, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma' , Investigative Ophthalmology and Visual Science, vol. 58, no. 3 , pp. 1537-1544 , doi: https://doi.org/10.1167/iovs.16-21049.

Zhou, T, Souzeau, E, Siggs, OM, Landers, J, Mills, R, Goldberg, I, Healey, PR, Graham, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Galanopoulos, A, Casson, RJ, Ruddle, JB, Ellis, J, Leo, P, Brown, MA, MacGregor, S, Sharma, Shiwani, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma' , Investigative Ophthalmology and Visual Science, vol. 58, no. 3 , pp. 1537-1544 , doi: https://doi.org/10.1167/iovs.16-21049.

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