ePrints

Items where Author is "Craig, JE"

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | No Grouping
Jump to: Article
Number of items: 108.

Article

Afshari, NA, Igo Jr, RP, Morris, NJ, Stambolian, D, Sharma, Shiwani, Pulagam, VL, Dunn, S, Stamler, JF, Truitt, BJ, Rimmler, J, Kuot, A, Croasdale, CR, Qin, X, Burdon, KP ORCID: 0000-0001-8217-1249, Riazuddin, SA, Mills, R, Klebe, S, Minear, MA, Zhao, J, Balajonda, E, Rosenwasser, GO, Baratz, KH, Mootha, VV, Patel, SV, Gregory, SG, Bailey-Wilson, JE, Price, MO, Price, FW, Craig, JE, Fingert, JH, Gottsch, JD, Aldave, AJ, Klintworth, GK, Lass, JH, Li, YJ and Iyengar, SK 2017 , 'Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy' , Nature Communications, vol. 8 , pp. 1-8 , doi: https://doi.org/10.1038/ncomms14898.

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 .

Burdon, KP ORCID: 0000-0001-8217-1249, Awadalla, MS, Mitchell, P, Wang, JJ, White, A, Keane, MC, Souzeau, E, Graham, SL, Goldberg, I, Healey, PR, Landers, J, Mills, RAD, Best, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Sharma, S and Craig, JE 2018 , 'DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma' , Ophthalmic Genetics, vol. 39, no. 2 , pp. 221-227 , doi: https://doi.org/10.1080/13816810.2017.1413659.

Burdon, KP ORCID: 0000-0001-8217-1249, Awadalla, MS, Mitchell, P, Wang, JJ, White, A, Keane, MC, Souzeau, E, Graham, SL, Goldberg, I, Healey, PR, Landers, J, Mills, RAD, Best, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Sharma, Shiwani and Craig, JE 2018 , 'DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma' , Ophthalmic Genetics, vol. 39, no. 2 , pp. 221-227 , doi: https://doi.org/10.1080/13816810.2017.1413659.

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.

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, Alamein, M, Skrzypiec, K, Beltz, J, Pfaff, A, Burdon, KP ORCID: 0000-0001-8217-1249, Ercal, N, de Iongh, RU and Sharma, S 2021 , 'Genotype, age, genetic background, and sex influence Epha2-related cataract development in mice' , Investigative Ophthalmology and Visual Science, vol. 62, no. 12 , pp. 1-16 , doi: https://doi.org/10.1167/iovs.62.12.3.

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.

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.

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.

Graham, PS ORCID: 0000-0002-8317-510X, Kaidonis, G, Abhary, S, Gillies, MC, Daniell, M, Essex, RW, Chang, JH, Lake, SR, Pal, B, Jenkins, AJ, Hewitt, AW ORCID: 0000-0002-5123-5999, Lamoureux, EL, Hykin, PG, Petrovsky, N, Brown, MA, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy' , BMC Medical Genetics, vol. 19, no. 1 , pp. 1-8 , doi: https://doi.org/10.1186/s12881-018-0587-8.

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.

Gurung, RL, FitzGerald, LM ORCID: 0000-0002-6882-2698, Liu, E, McComish, BJ ORCID: 0000-0003-1940-0007, Kaidonis, G, Ridge, B, Hewitt, AW ORCID: 0000-0002-5123-5999, Vote, BJ, Verma, N, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2022 , 'Identifying genetic biomarkers predicting response to anti-vascular endothelial growth factor injections in diabetic macular edema' , International Journal of Molecular Sciences, vol. 23, no. 7 , doi: https://doi.org/10.3390/ijms23074042.

Gurung, RL, FitzGerald, LM ORCID: 0000-0002-6882-2698, Liu, E, McComish, BJ ORCID: 0000-0003-1940-0007, Kaidonis, G, Ridge, B, Hewitt, AW ORCID: 0000-0002-5123-5999, Vote, BJT, Verma, N, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2022 , 'The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus' , BMC Ophthalmology, vol. 22 , p. 94 , doi: https://doi.org/10.1186/s12886-022-02325-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.

Han, X, Steven, K, Qassim, A, Marshall, HN, Bean, C, Tremeer, M, An, J, Siggs, OM, Gharahkhani, P, Craig, JE, Hewitt, AW ORCID: 0000-0002-5123-5999, Trzaskowski, M and MacGregor, S 2021 , 'Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA' , American Journal of Human Genetics, vol. 108, no. 7 , pp. 1204-1216 , doi: https://doi.org/10.1016/j.ajhg.2021.05.005.

Hardcastle, AJ, Liskova, P, Bykhovskaya, Y, McComish, BJ ORCID: 0000-0003-1940-0007, Davidson, AE, Inglehearn, CF, Li, X, Choquet, H, Habeeb, M, Lucas, SEM ORCID: 0000-0003-0104-5406, Sahebjada, S, Pontikos, N, Lopez, KER, Khawaja, AP, Ali, M, Dudakova, L, Skalicka, P, Van Dooren, BTH, Geerards, AJM, Haudum, CW, Faro, VL, Tenen, A, Simcoe, MJ, Patasova, K, Yarrand, D, Yin, J, Siddiqui, S, Rice, A, Farraj, LA, Chen, YDI, Rahi, JS, Krauss, RM, Theusch, E, Charlesworth, JC ORCID: 0000-0001-6201-3518, Szczotka-Flynn, L, Toomes, C, Meester-Smoor, MA, Richardson, AJ, Mitchell, PA, Taylor, KD, Melles, RB, Aldave, AJ, Mills, RA, Cao, K, Chan, E, Daniell, MD, Wang, JJ, Rotter, JI, Hewitt, AW ORCID: 0000-0002-5123-5999, MacGregor, S, Klaver, CCW, Ramdas, WD, Craig, JE, Iyengar, SK, O'Brart, D, Jorgenson, E, Baird, PN, Rabinowitz, YS, Burdon, KP ORCID: 0000-0001-8217-1249, Hammond, CJ, Tuft, SJ and Hysi, PG 2021 , 'A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus' , Communications Biology, vol. 4, no. 1 , pp. 1-13 , doi: https://doi.org/10.1038/s42003-021-01784-0.

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 ORCID: 0000-0002-5123-5999, Januar, V, Sexton-Oates, A, Joo, JE, Franchina, M, Wang, JJ, Liang, H, Craig, JE and Saffery, R 2017 , 'DNA methylation landscape of ocular tissue relative to matched peripheral blood' , Scientific Reports, vol. 7 , pp. 1-8 , doi: https://doi.org/10.1038/srep46330.

Hewitt, AW ORCID: 0000-0002-5123-5999, Januar, V, Sexton-Oates, A, Joo, JE, Franchina, M, Wang, JJ, Liang, H, Craig, JE and Saffery, R 2017 , 'DNA methylation landscape of ocular tissue relative to matched peripheral blood' , Scientific Reports, vol. 7 , pp. 1-8 , doi: https://doi.org/10.1038/srep46330.

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.

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.

Javadiyan, S, Craig, JE, Sharma, S, Lower, KM, Casey, T, Haan, E, Souzeau, E and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)' , BMC Medical Genetics, vol. 18, no. 1 , pp. 1-6 , doi: https://doi.org/10.1186/s12881-017-0414-7.

Javadiyan, S, Craig, JE, Sharma, Shiwani, Lower, KM, Casey, T, Haan, E, Souzeau, E and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)' , BMC Medical Genetics, vol. 18, no. 1 , pp. 1-6 , doi: https://doi.org/10.1186/s12881-017-0414-7.

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.

Javadiyan, S, Lucas, SEM ORCID: 0000-0003-0104-5406, Wangmo, D, Ngy, M, Edussuriya, K, Craig, JE, Rudkin, A, Casson, R, Selva, D, Sharma, Shiwani, Lower, KM, Meucke, J and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka' , Molecular Genetics & Genomic Medicine , pp. 1-10 , doi: https://doi.org/10.1002/mgg3.406.

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.

Kaidonis, G, Hassall, MM, Phillips, R, Raymond, G, Saha, N, Wong, GH, Gilhotra, JS, Liu, E, Burdon, KP ORCID: 0000-0001-8217-1249, Henderson, T, Newland, H, Lake, SR and Craig, JE 2017 , 'Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non-Indigenous Australians in South Australia and the Northern Territory' , Clinical and Experimental Ophthalmology , pp. 1-7 , doi: https://doi.org/10.1111/ceo.13083.

Kaidonis, G, Hassall, MM, Phillips, R, Raymond, G, Saha, N, Wong, GH, Gilhotra, JS, Liu, E, Burdon, KP ORCID: 0000-0001-8217-1249, Henderson, T, Newland, H, Lake, SR and Craig, JE 2017 , 'Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non-Indigenous Australians in South Australia and the Northern Territory' , Clinical and Experimental Ophthalmology, vol. 46, no. 4 , pp. 417-423 , doi: https://doi.org/10.1111/ceo.13083.

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.

Kuot, A, Corbett, MA, Mills, RA, Snibson, G, Wiffen, S, Loh, R, Burdon, KP ORCID: 0000-0001-8217-1249, Craig, JE and Sharma, S 2021 , 'Differential gene expression analysis of corneal endothelium indicates involvement of phagocytic activity in Fuchs’ endothelial corneal dystrophy' , Experimental Eye Research, vol. 210 , pp. 1-10 , doi: https://doi.org/10.1016/j.exer.2021.108692.

Kuot, A, Hewitt, AW ORCID: 0000-0002-5123-5999, Snibson, GR, Souzeau, E, Mills, R, Craig, JE, Burdon, KP ORCID: 0000-0001-8217-1249 and Sharma, S 2017 , 'TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases' , PLoS One, vol. 12, no. 8 , pp. 1-13 , doi: https://doi.org/10.1371/journal.pone.0183719.

Kuot, A, Hewitt, AW ORCID: 0000-0002-5123-5999, Snibson, GR, Souzeau, E, Mills, R, Craig, JE, Burdon, KP ORCID: 0000-0001-8217-1249 and Sharma, Shiwani 2017 , 'TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases' , PLoS One, vol. 12, no. 8 , pp. 1-13 , doi: https://doi.org/10.1371/journal.pone.0183719.

Kuot, A, Ronci, M, Mills, R, Klebe, S, Snibson, G, Wiffen, S, Loh, R, Corbett, M, Zhou, T, Chataway, T, Burdon, KP ORCID: 0000-0001-8217-1249, Craig, JE, Urbani, A and Sharma, S 2019 , 'Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy' , Clinical and Experimental Ophthalmology, vol. 47, no. 8 , pp. 1028-1042 , doi: https://doi.org/10.1111/ceo.13569.

Kuot, A, Ronci, M, Mills, R, Klebe, S, Snibson, G, Wiffen, S, Loh, R, Corbett, M, Zhou, T, Chataway, T, Burdon, KP ORCID: 0000-0001-8217-1249, Craig, JE, Urbani, A and Sharma, Shiwani 2019 , 'Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy' , Clinical and Experimental Ophthalmology , pp. 1-15 , doi: https://doi.org/10.1111/ceo.13569.

Landi, MT, Bishop, DT, MacGregor, S, Machiela, MJ, Stratigos, AJ, Ghiorzo, P, Brossard, M, Calista, D, Choi, J, Fargnoli, MC, Zhang, T, Rodolfo, M, Trower, AJ, Menin, C, Martinez, J, Hadjisavvas, A, Song, L, Stefanaki, I, Scolyer, R, Yang, R, Goldstein, AM, Potrony, M, Kypreou, KP, Pastorino, L, Queirolo, P, Pellegrini, C, Cattaneo, L, Zawistowski, M, Gimenez-Xavier, P, Rodriguez, A, Elefanti, L, Manoukian, S, Rivoltini, L, Smith, BH, Loizidou, MA, Del Regno, L, Massi, D, Mandala, M, Khosrotehrani, K, Akslen, LA, Amos, CI, Andresen, PA, Avril, MF, Azizi, E, Soyer, HP, Bataille, V, Dalmasso, B, Bowdler, LM, Burdon, KP ORCID: 0000-0001-8217-1249, Chen, WV, Codd, V, Craig, JE, Debniak, T, Falchi, M, Fang, S, Friedman, E, Simi, S, Galan, P, Garcia-Casado, Z, Gillanders, EM, Gordon, S, Green, A, Gruis, NA, Hansson, J, Harland, M, Harris, J, Helsing, P, Henders, A, Hocevar, M, Hoiom, V, Hunter, D, Ingvar, C, Kumar, R, Lang, J, Lathrop, GM, Lee, JE, Li, X, Lubinski, J, Mackie, RM, Malt, M, Malvehy, J, McAloney, K, Mohamdi, H, Molven, A, Moses, EK, Neale, RE, Novakovic, S, Nyholt, DR, Olsson, H, Orr, N, Fritsche, LG, Puig-Butille, JA, Qureshi, AA, Radford-Smith, GL, Randerson-Moor, J, Requena, C, Rowe, C, Samani, NJ, Sanna, M and Schadendorf, D 2020 , 'Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility' , Nature Genetics, vol. 52, no. 5 , pp. 494-504 , doi: https://doi.org/10.1038/s41588-020-0611-8.

Landi, MT, Bishop, DT, MacGregor, S, Machiela, MJ, Stratigos, AJ, Ghiorzo, P, Brossard, M, Calista, D, Choi, J, Fargnoli, MC, Zhang, T, Rodolfo, M, Trower, AJ, Menin, C, Martinez, J, Hadjisavvas, A, Song, L, Stefanaki, I, Scolyer, R, Yang, R, Goldstein, AM, Potrony, M, Kypreou, KP, Pastorino, L, Queirolo, P, Pellegrini, C, Cattaneo, L, Zawistowski, M, Gimenez-Xavier, P, Rodriguez, A, Elefanti, L, Manoukian, S, Rivoltini, L, Smith, BH, Loizidou, MA, Del Regno, L, Massi, D, Mandala, M, Khosrotehrani, K, Akslen, LA, Amos, CI, Andresen, PA, Avril, MF, Azizi, E, Soyer, HP, Bataille, V, Dalmasso, B, Bowdler, LM, Burdon, KP ORCID: 0000-0001-8217-1249, Chen, WV, Codd, V, Craig, JE, Debniak, T, Falchi, M, Fang, S, Friedman, E, Simi, S, Galan, P, Garcia-Casado, Z, Gillanders, EM, Gordon, S, Green, A, Gruis, NA, Hansson, J, Harland, M, Harris, J, Helsing, P, Henders, A, Hocevar, M, Hoiom, V, Hunter, D, Ingvar, C, Kumar, R, Lang, J, Lathrop, GM, Lee, JE, Li, X, Lubinski, J, Mackie, RM, Malt, M, Malvehy, J, McAloney, K, Mohamdi, H, Molven, A, Moses, EK ORCID: 0000-0001-7781-4465, Neale, RE, Novakovic, S, Nyholt, DR, Olsson, H, Orr, N, Fritsche, LG, Puig-Butille, JA, Qureshi, AA, Radford-Smith, GL, Randerson-Moor, J, Requena, C, Rowe, C, Samani, NJ, Sanna, M and Schadendorf, D 2020 , 'Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility' , Nature Genetics, vol. 52, no. 5 , pp. 494-504 , doi: https://doi.org/10.1038/s41588-020-0611-8.

Liu, E, Craig, JE and Burdon, K ORCID: 0000-0001-8217-1249 2017 , 'Diabetic macular oedema: clinical risk factors and emerging genetic influences' , Clinical and Experimental Optometry, vol. 100, no. 6 , pp. 569-576 , doi: https://doi.org/10.1111/cxo.12552.

Liu, E, Craig, JE and Burdon, K ORCID: 0000-0001-8217-1249 2017 , 'Diabetic macular oedema: clinical risk factors and emerging genetic influences' , Clinical and Experimental Optometry, vol. 100, no. 6 , pp. 569-576 , doi: https://doi.org/10.1111/cxo.12552.

Liu, E, Estevez, J, Kaidonis, G, Hassall, M, Phillips, R, Raymond, G, Saha, N, Wong, GHC, Gilhotra, J, Burdon, K ORCID: 0000-0001-8217-1249, Landers, J, Henderson, T, Newland, H, Lake, S and Craig, JE 2019 , 'Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: a population-based audit' , Clinical and Experimental Ophthalmology, vol. 47, no. 5 , pp. 598-604 , doi: https://doi.org/10.1111/ceo.13466.

Liu, E, Estevez, J, Kaidonis, G, Hassall, M, Phillips, R, Raymond, G, Saha, N, Wong, GHC, Gilhotra, J, Burdon, K ORCID: 0000-0001-8217-1249, Landers, J, Henderson, T, Newland, H, Lake, S and Craig, JE 2019 , 'Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: a population-based audit' , Clinical and Experimental Ophthalmology, vol. 47, no. 5 , pp. 598-604 , doi: https://doi.org/10.1111/ceo.13466.

Liu, E, Kaidonis, G, Gillies, MC, Abhary, S, Essex, RW, Chang, JH, Pal, B, Daniell, M, Lake, S, Gilhotra, J, Petrovsky, N, Hewitt, AW, Jenkins, A, Lamoureux, EL, Gleadle, JM, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2019 , 'Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample' , Scientific Reports, vol. 9, no. 1 , pp. 1-7 , doi: https://doi.org/10.1038/s41598-018-37388-8.

Liu, E, Kaidonis, G, McComish, BJ ORCID: 0000-0003-1940-0007, Gillies, MC, Abhary, S, Essex, RW, Chang, JH, Pal, B, Daniell, M, Lake, S, Petrovsky, N, Hewitt, AW ORCID: 0000-0002-5123-5999, Jenkins, A, Lamoureux, EL, Gleadle, JM, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2019 , 'MicroRNA-related genetic variants are associated with diabetic retinopathy in type 1 diabetes mellitus' , Investigative Ophthalmology & Visual Science, vol. 60, no. 12 , pp. 3937-3942 , doi: https://doi.org/10.1167/iovs.18-25570.

Lucas, SE ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB ORCID: 0000-0002-9774-1539, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Brown, MA, Lindsay, RC, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent' , Investigative Ophthalmology and Visual Science (Iovs), vol. 58, no. 14 , pp. 6248-6256 , doi: https://doi.org/10.1167/iovs.17-22417.

Lucas, SE ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB ORCID: 0000-0002-9774-1539, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Lindsay, R, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent' , PLoS One, vol. 13, no. 6 , pp. 1-15 , doi: https://doi.org/10.1371/journal.pone.0199178.

Lucas, SEM ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Brown, MA, Lindsay, RC, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent' , Investigative Ophthalmology and Visual Science (Iovs), vol. 58, no. 14 , pp. 6248-6256 , doi: https://doi.org/10.1167/iovs.17-22417.

Lucas, SEM ORCID: 0000-0003-0104-5406, Zhou, T, Blackburn, NB, Mills, RA, Ellis, J, Leo, P, Souzeau, E, Ridge, B, Charlesworth, JC ORCID: 0000-0001-6201-3518, Lindsay, R, Craig, JE and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent' , PLoS One, vol. 13, no. 6 , pp. 1-15 , doi: https://doi.org/10.1371/journal.pone.0199178.

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.

Marshall, H, Mullany, S, Qassim, A, Siggs, O, Hassall, M, Ridge, B, Nguyen, T, Awadalla, M, Andrew, NH, Healey, PR, Agar, A, Galanopoulos, A, Hewitt, AW ORCID: 0000-0002-5123-5999, MacGregor, S, Graham, SL, Mills, R, Shulz, A, Landers, J, Casson, RJ and Craig, JE 2021 , 'Cardiovascular disease predicts structural and functional progression in early glaucoma' , Ophthalmology, vol. 128, no. 1 , pp. 58-69 , doi: https://doi.org/10.1016/j.ophtha.2020.06.067.

Marshall, HN, Andrew, NH, Hassall, M, Qassim, A, Souzeau, E, Ridge, B, Nguyen, T, Fitzgerald, J, Awadalla, MS, Burdon, KP ORCID: 0000-0001-8217-1249, Healey, PR, Agar, A, Galanopoulos, A, Hewitt, AW ORCID: 0000-0002-5123-5999, Graham, SL, Landers, J, Casson, RJ and Craig, JE 2019 , 'Macular ganglion cell-inner plexiform layer loss precedes peripapillary retinal nerve fiber layer loss in glaucoma with lower intraocular pressure' , Ophthalmology , pp. 1-12 , doi: https://doi.org/10.1016/j.ophtha.2019.03.016.

Marshall, HN, Andrew, NH, Hassall, M, Qassim, A, Souzeau, E, Ridge, B, Nguyen, T, Fitzgerald, J, Awadalla, MS, Burdon, KP ORCID: 0000-0001-8217-1249, Healey, PR, Agar, A, Galanopoulos, A, Hewitt, AW ORCID: 0000-0002-5123-5999, Graham, SL, Landers, J, Casson, RJ and Craig, JE 2019 , 'Macular ganglion cell-inner plexiform layer loss precedes peripapillary retinal nerve fiber layer loss in glaucoma with lower intraocular pressure' , Ophthalmology, vol. 126, no. 8 , pp. 1119-1130 , doi: https://doi.org/10.1016/j.ophtha.2019.03.016.

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.

Meng, W, Shah, KP, Pollack, S, Toppila, I, Hebert, HL, McCarthy, MI, Groop, L, Ahlqvist, E, Lyssenko, V, Agardh, E, Daniell, M, Kaidonis, G, Craig, JE, Mitchell, P, Liew, G, Kifley, A, Wang, JJ, Christiansen, MW, Jensen, RA, Penman, A, Hancock, HA, Chen, CJ, Correa, A, Kuo, JZ, Li, Xiaohui, Chen, Y-der I, Rotter, JI, Klein, R, Klein, B, Wong, TY, Morris, AD, Doney, ASF, Colhoun, HM, Price, AL, Burdon, KP ORCID: 0000-0001-8217-1249, Groop, P-H, Sandholm, N, Grassi, MA, Sobrin, L and Palmer, CNA 2018 , 'A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes' , Acta Ophthalmologica, vol. 96, no. 7 , e811-e819 , doi: https://doi.org/10.1111/aos.13769.

Nguyen Tran, MT, Mohd Khalid, MKN, Pebay, A, Cook, AL ORCID: 0000-0003-1770-7910, Liang, HH, Wong, RCB, Craig, JE, Liu, G-S ORCID: 0000-0003-3379-724X, Hung, SS and Hewitt, AW ORCID: 0000-0002-5123-5999 2019 , 'Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant' , Molecular Vision, vol. 25 , pp. 174-182 .

Nguyen Tran, MT, Mohd Khalid, MKN, Pebay, A, Cook, AL ORCID: 0000-0003-1770-7910, Liang, HH, Wong, RCB, Craig, JE, Liu, G-S ORCID: 0000-0003-3379-724X, Hung, SS and Hewitt, AW ORCID: 0000-0002-5123-5999 2019 , 'Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant' , Molecular Vision, vol. 25 , pp. 174-182 .

Pollack, S, Igo Jr, RP, Jensen, RA, Christiansen, M, Li, X, Cheng, CY, Ng, MCY, Smith, AV, Rossin, EJ, Segre, AV, Davoudi, S, Tan, GS, Chen, Y-DI, Kuo, JZ, Dimitrov, LM, Stanwyck, LK, Meng, W, Hosseini, SM, Imamura, M, Nousome, D, Kim, J, Hai, Y, Jia, Y, Ahn, J, Leong, A, Shah, K, Park, KH, Guo, X, Ipp, E, Taylor, KD, Adler, SG, Sedor, JR, Freedman, BI, Lee, I-T, Sheu, WH-H, Kubo, M, Takahashi, A, Hadjadj, S, Marre, M, Tregouet, D-A, Mckean-Cowdin, R, Varma, R, McCarthy, MI, Groop, L, Ahlqvist, E, Lyssenko, V, Agardh, E, Morris, A, Doney, ASF, Colhoun, HM, Toppila, I, Sandholm, N, Groop, P-H, Maeda, S, Hanis, CL, Penman, A, Chen, CJ, Hancock, H, Mitchell, P, Craig, JE, Chew, EY, Paterson, AD, Grassi, MA, Palmer, C, Bowden, DW, Yaspan, BL, Siscovick, D, Cotch, MF, Wang, JJ, Burdon, KP ORCID: 0000-0001-8217-1249, Wong, TY, Klein, BEK, Klein, R, Rotter, JI, Iyengar, SK, Price, AL and Sobrin, L 2018 , 'Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control' , Diabetes, vol. 68, no. 2 , pp. 441-456 , doi: https://doi.org/10.2337/db18-0567.

Pollack, S, Igo Jr, RP, Jensen, RA, Christiansen, M, Li, X, Cheng, CY, Ng, MCY, Smith, AV, Rossin, EJ, Segre, AV, Davoudi, S, Tan, GS, Chen, Y-DI, Kuo, JZ, Dimitrov, LM, Stanwyck, LK, Meng, W, Hosseini, SM, Imamura, M, Nousome, D, Kim, J, Hai, Y, Jia, Y, Ahn, J, Leong, A, Shah, K, Park, KH, Guo, X, Ipp, E, Taylor, KD, Adler, SG, Sedor, JR, Freedman, BI, Lee, I-T, Sheu, WH-H, Kubo, M, Takahashi, A, Hadjadj, S, Marre, M, Tregouet, D-A, Mckean-Cowdin, R, Varma, R, McCarthy, MI, Groop, L, Ahlqvist, E, Lyssenko, V, Agardh, E, Morris, A, Doney, ASF, Colhoun, HM, Toppila, I, Sandholm, N, Groop, P-H, Maeda, S, Hanis, CL, Penman, A, Chen, CJ, Hancock, H, Mitchell, P, Craig, JE, Chew, EY, Paterson, AD, Grassi, MA, Palmer, C, Bowden, DW, Yaspan, BL, Siscovick, D, Cotch, MF, Wang, JJ, Burdon, KP ORCID: 0000-0001-8217-1249, Wong, TY, Klein, BEK, Klein, R, Rotter, JI, Iyengar, SK, Price, AL and Sobrin, L 2018 , 'Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control' , Diabetes, vol. 68, no. 2 , pp. 441-456 , doi: https://doi.org/10.2337/db18-0567.

Qassim, A, Souzeau, E, Siggs, OM, Hassall, MM, Han, X, Griffiths, HL, Frost, NA, Vallabh, NA, Kirwan, JF, Menon, G, Cree, AJ, Galanopoulos, A, Agar, A, Healey, PR, Graham, SL, Landers, J, Casson, RJ, Gharahkhani, P, Willoughby, CE, Hewitt, AW ORCID: 0000-0002-5123-5999, Lotery, AJ, MacGregor, S and Craig, JE 2020 , 'An intraocular pressure polygenic risk score stratifies multiple primary open-angle glaucoma parameters including treatment intensity' , Ophthalmology, vol. 127, no. 7 , pp. 901-907 , doi: https://doi.org/10.1016/j.ophtha.2019.12.025.

Qassim, A, Walland, MJ, Landers, J, Awadalla, M, Nguyen, T, Loh, J, Schulz, AM, Ridge, B, Galanopoulos, A, Agar, A, Hewitt, AW ORCID: 0000-0002-5123-5999, Graham, SL, Healey, PR, Casson, RJ and Craig, JE 2020 , 'Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: a prospective multi-site study' , Clinical and Experimental Ophthalmology , pp. 1-8 , doi: https://doi.org/10.1111/ceo.13724.

Qassim, A, Walland, MJ, Landers, J, Awadalla, M, Nguyen, T, Loh, J, Schulz, AM, Ridge, B, Galanopoulos, A, Agar, A, Hewitt, AW ORCID: 0000-0002-5123-5999, Graham, SL, Healey, PR, Casson, RJ and Craig, JE 2020 , 'Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: a prospective multi-site study' , Clinical and Experimental Ophthalmology, vol. 48, no. 4 , 442–449 , doi: https://doi.org/10.1111/ceo.13724.

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, Awadalla, MS, Souzeau, E, Staffieri, SE, Kearns, LS, Laurie, K, Kuot, A, Qassim, A, Edwards, TL, Coote, MA, Mancel, E, Walland, MJ, Dondey, J, Galanopoulous, A, Casson, RJ, Mills, RA, MacArthur, DG, Ruddle, JB, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2020 , 'The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort' , Clinical Genetics, vol. 97, no. 5 , pp. 764-769 , doi: https://doi.org/10.1111/cge.13722.

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, Javadiyan, S, Sharma, S, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract' , European Journal of Human Genetics, vol. 25, no. 6 , pp. 711-718 , doi: https://doi.org/10.1038/ejhg.2017.33.

Siggs, OM, Javadiyan, S, Sharma, Shiwani, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract' , European Journal of Human Genetics, vol. 25, no. 6 , pp. 711-718 , doi: https://doi.org/10.1038/ejhg.2017.33.

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.

Sobrin, L, Chong, YH, Fan, Q, Gan, A, Stanwyck, LK, Kaidonis, G, Craig, JE, Kim, J, Liao, W-L, Huang, Y-C, Lee, W-J, Hung, Y-J, Guo, X, Hai, Y, Ipp, E, Pollack, S, Hancock, H, Price, A, Penman, A, Mitchell, P, Liew, G, Smith, AV, Gudnason, V, Tan, G, Klein, BEK, Kuo, J, Li, X, Christiansen, MW, Psaty, BM, Sandow, K, Jensen, RA, Klein, R, Cotch, MF, Wang, JJ, Jia, Y, Chen, CJ, Chen, Y-DI, Rotter, JL, Tsai, F-J, Hanis, CL, Burdon, KP ORCID: 0000-0001-8217-1249, Wong, TY and Cheng, C-Y 2017 , 'Genetically determined plasma lipid levels and risk of diabetic retinopathy: A mendelian randomization study' , Diabetes, vol. 66, no. 12 , pp. 3130-3141 , doi: https://doi.org/10.2337/db17-0398.

Sobrin, L, Chong, YH, Fan, Q, Gan, A, Stanwyck, LK, Kaidonis, G, Craig, JE, Kim, J, Liao, WL, Huang, YC, Lee, WJ, Hung, YJ, Guo, X, Hai, Y, Ipp, E, Pollack, S, Hancock, H, Price, A, Penman, A, Mitchell, P, Liew, G, Smith, AV, Gudnason, V, Tan, G, Klein, BEK, Kuo, J, Li, Xiaohui, Christiansen, MW, Psaty, BM, Sandow, K, Jensen, RA, Klein, R, Cotch, MF, Wang, JJ, Jia, Y, Chen, CJ, Chen, YDI, Rotter, JL, Tsai, FJ, Hanis, CL, Burdon, KP ORCID: 0000-0001-8217-1249, Wong, TY and Cheng, CY 2017 , 'Genetically determined plasma lipid levels and risk of diabetic retinopathy: A mendelian randomization study' , Diabetes, vol. 66, no. 12 , pp. 3130-3141 , doi: https://doi.org/10.2337/db17-0398.

Souzeau, E, Rudkin, AK, Dubowsky, A, Casson, RJ, Muecke, JS, Mancel, E, Whiting, M, Mills, RAD, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2018 , 'PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia' , Molecular Vision, vol. 24 , pp. 261-273 .

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.

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, 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.

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.

This list was generated on Thu Jun 1 01:41:14 2023 AEST.
TOP