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Items where Author is "Ruddle, JB"

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Number of items: 8.

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.

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.

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.

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.

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.

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.

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.

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