ePrints

Items where Author is "Souzeau, E"

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: 41.

Article

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.

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.

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.

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.

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.

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, 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.

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, 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.

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.

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.

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.

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 01:52:15 2023 AEST.
TOP