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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
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, Craig JE. Siggs OM, et al. Among authors: edwards tl. Clin Genet. 2020 May;97(5):764-769. doi: 10.1111/cge.13722. Epub 2020 Mar 5. Clin Genet. 2020. PMID: 32052405 Free PMC article.
Telemedicine model to prevent blindness from familial glaucoma.
Staffieri SE, Ruddle JB, Kearns LS, Barbour JM, Edwards TL, Paul P, Mackey DA. Staffieri SE, et al. Among authors: edwards tl. Clin Exp Ophthalmol. 2011 Nov;39(8):760-5. doi: 10.1111/j.1442-9071.2011.02556.x. Epub 2011 Apr 27. Clin Exp Ophthalmol. 2011. PMID: 21749595
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK. Heath Jeffery RC, et al. Among authors: edwards tl. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):22. doi: 10.1167/iovs.65.5.22. Invest Ophthalmol Vis Sci. 2024. PMID: 38743414 Free PMC article.
Novel non-contiguous exon duplication in choroideremia.
Edwards TL, Williams J, Patrício MI, Simunovic MP, Shanks M, Clouston P, MacLaren RE. Edwards TL, et al. Clin Genet. 2018 Jan;93(1):144-148. doi: 10.1111/cge.13021. Epub 2017 Apr 19. Clin Genet. 2018. PMID: 28369842
331 results