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Number of items: 15.

Article

Gharahkhani, P, Burdon, KP

, Cooke Bailey, JN, Hewitt, AW

, 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.

Han, X, Souzeau, E, Ong, J-S, An, J, Siggs, OM, Burdon, KP

, Best, S, Goldberg, I, Healey, PR, Graham, SL, Ruddle, JB, Mills, RA, Landers, J, Galanopoulos, A, White, AJR, Casson, R, Mackey, DA, Hewitt, AW

, 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

, 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.

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.

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

, Mackey, DA, Gharahkhani, P, Craig, JE and Hewitt, AW

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.

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

, 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.

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

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

, 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, Shiwani, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP

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

, Burdon, KP

, 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

, Ruddle, JB, Elder, JE, Mackey, DA, Burdon, KP

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.

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

, Ruddle, JB, Burdon, KP

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.

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

, 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.

Zammit, NW, Siggs, OM, Gray, PE, Horikawa, K, Langley, DB, Walters, SN, Daley, SR, Loetsch, C, Warren, J, Yap, JY, Cultrone, D, Russell, A, Malle, EK, Villanueva, JE, Cowley, MJ, Gayevskiy, V, Dinger, ME, Brink, R, Zahra, D, Chaudhri, G, Karupiah, G

, Whittle, B, Roots, C, Bertram, E, Yamada, M, Jeelall, Y, Enders, A, Clifton, BE, Mabbitt, PD, Jackson, CJ, Watson, SR, Jenne, CN, Lanier, LL, Wiltshire, T, Spitzer, MH, Nolan, GP, Schmitz, F, Aderem, A, Porebski, BT, Buckle, AM, Abbott, DW, Ziegler, JB, Craig, ME, Benitez-Aguirre, P, Teo, J, Tangye, SG, King, C, Wong, M, Cox, MP, Phung, W, Tang, J, Sandoval, W, Wertz, IE, Christ, D, Goodnow, CC and Grey, ST 2019 , 'Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity' , Nature Immunology, vol. 20, no. 10 , pp. 1299-1310 , doi: https://doi.org/10.1038/s41590-019-0492-0.

Zhou, T, Souzeau, E, Siggs, OM, Landers, J, Mills, R, Goldberg, I, Healey, PR, Graham, S, Hewitt, AW

, Mackey, DA, Galanopoulos, A, Casson, RJ, Ruddle, JB, Ellis, J, Leo, P, Brown, MA, MacGregor, S, Sharma, Shiwani, Burdon, KP

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 Tue Mar 21 02:02:27 2023 AEDT.

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