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Items where Author is "Ruddle, JB"

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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 .

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.

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.

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, 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.

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, 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, 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.

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 01:56:57 2023 AEST.
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