Items where Author is "Elder, JE"

Dimasi, DP, Hewitt, AW, Straga, T, Pater, J, MacKinnon, JR, Elder, JE, Casey, T, Mackey, DA and Craig, JE 2007 , 'Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma' , Clinical Genetics, vol. 72, no. 3 , pp. 255-260 , doi: https://doi.org/10.1111/j.1399-0004.2007.00864.x.

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

and Burdon, KP

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

and Burdon, KP

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.

Jones, JL

, Corbett, MA, Yeaman, E, Zhao, D

, Gecz, J, Gasperini, RJ

, Charlesworth, JC

, Mackey, DA, Elder, JE, Craig, JE and Burdon, KP

2021 , 'A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract' , European Journal of Human Genetics , doi: https://doi.org/10.1038/s41431-021-00889-8.

Jones, JL

, Corbett, MA, Yeaman, E, Zhao, D, Gecz, J, Gasperini, RJ

, Charlesworth, JC

, Mackey, DA, Elder, JE, Craig, JE and Burdon, KP

2021 , 'A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract' , European Journal of Human Genetics , doi: https://doi.org/10.1038/s41431-021-00889-8.

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.

Shaaban, S, MacKinnon, S, Andrews, C, Staffieri, SE, Maconachie, GDE, Chan, W-M, Whitman, MC, Morton, SU, Yazar, S, MacGregor, S, Elder, JE, Traboulsi, EI, Gottlob, I, Hewitt, AW

, Hunter, DG, Mackey, DA and Engle, EC 2018 , 'Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect' , Investigative Ophthalmology & Visual Science, vol. 59, no. 10 , pp. 4054-4064 , doi: https://doi.org/10.1167/iovs.18-24082.

Shaaban, S, MacKinnon, S, Andrews, C, Staffieri, SE, Maconachie, GDE, Chan, W-M, Whitman, MC, Morton, SU, Yazar, S, MacGregor, S, Elder, JE, Traboulsi, EI, Gottlob, I, Hewitt, AW

, Hunter, DG, Mackey, DA and Engle, EC 2018 , 'Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect' , Investigative Ophthalmology & Visual Science, vol. 59, no. 10 , pp. 4054-4064 , doi: https://doi.org/10.1167/iovs.18-24082.

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.

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.

Whitman, MC, Di Gioia, SA, Chan, W-M, Gelber, A, Pratt, BM, Bell, JL, Collins, TE, Knowles, JA, Armoskus, C, Pato, M, Pato, C, Shaaban, S, Staffieri, S, MacKinnon, S, Maconachie, GDE, Elder, JE, Traboulsi, EI, Gottlob, I, Mackey, DA, Hunter, DG and Engle, EC 2020 , 'Recurrent rare copy number variants increase risk for esotropia' , Investigative Ophthalmology & Visual Science, vol. 61, no. 10 , pp. 1-11 , doi: https://doi.org/10.1167/iovs.61.10.22.

University of Tasmania

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