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Items where Author is "Ruddle, JB"
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Article
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
.
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: 10.1001/jamaophthalmol.2018.4477.
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: 10.1001/jamaophthalmol.2018.4477.
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: 10.1038/s41588-018-0176-y.
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: 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: 10.1111/cge.13722.
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: 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: 10.1001/jamaophthalmol.2018.5646.
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: 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: 10.1016/j.ophtha.2019.12.024.
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: 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: 10.1038/ejhg.2017.59.
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: 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: 10.1016/j.ophtha.2016.11.011.
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: 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: 10.1371/journal.pone.0172427.
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: 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, 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: 10.1167/iovs.16-21049.
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: 10.1167/iovs.16-21049.