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Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL, McComish BJ, Staffieri SE, Souzeau E, Kearns LS, Elder JE, Charlesworth JC, Mackey DA, Ruddle JB, Taranath D, Pater J, Casey T, Craig JE, Burdon KP. Jones JL, et al. Among authors: taranath d. BMJ Open Ophthalmol. 2022 Aug;7(1):e001064. doi: 10.1136/bmjophth-2022-001064. BMJ Open Ophthalmol. 2022. PMID: 36161833 Free PMC article.
Classic features of multiple endocrine neoplasia type 2B.
Chen JY, Taranath DA, Chappell AJ, McMellon AE, Craig JE. Chen JY, et al. Arch Ophthalmol. 2007 Feb;125(2):280-1. doi: 10.1001/archopht.125.2.280. Arch Ophthalmol. 2007. PMID: 17296909 No abstract available.
Spontaneously resolved infantile glaucoma.
Hsu TT, Cugati S, Craig JE, Taranath D, Hodson T. Hsu TT, et al. Among authors: taranath d. Clin Exp Ophthalmol. 2014 Nov;42(8):800-2. doi: 10.1111/ceo.12327. Epub 2014 Apr 15. Clin Exp Ophthalmol. 2014. PMID: 24641779 No abstract available.
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
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, Craig JE. Souzeau E, et al. Among authors: taranath d. Eur J Hum Genet. 2017 Jun;25(7):839-847. doi: 10.1038/ejhg.2017.59. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513611 Free PMC article.
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
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, Burdon KP. Javadiyan S, et al. Among authors: taranath d. G3 (Bethesda). 2017 Oct 5;7(10):3257-3268. doi: 10.1534/g3.117.300109. G3 (Bethesda). 2017. PMID: 28839118 Free PMC article.
40 results