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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: staffieri se. G3 (Bethesda). 2017 Oct 5;7(10):3257-3268. doi: 10.1534/g3.117.300109. G3 (Bethesda). 2017. PMID: 28839118 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. 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
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA. Edwards TL, et al. Among authors: staffieri se. Clin Exp Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19. Clin Exp Ophthalmol. 2012. PMID: 22574936
Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.
Sanfilippo PG, Hammond CJ, Staffieri SE, Kearns LS, Melissa Liew SH, Barbour JM, Hewitt AW, Ge D, Snieder H, Mackinnon JR, Brown SA, Lorenz B, Spector TD, Martin NG, Wilmer JB, Mackey DA. Sanfilippo PG, et al. Among authors: staffieri se. Twin Res Hum Genet. 2012 Oct;15(5):624-30. doi: 10.1017/thg.2012.22. Epub 2012 Jun 13. Twin Res Hum Genet. 2012. PMID: 22877876
Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
Lim SH, St Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL. Lim SH, et al. Ophthalmic Genet. 2014 Mar;35(1):1-6. doi: 10.3109/13816810.2012.752017. Epub 2013 Jun 26. Ophthalmic Genet. 2014. PMID: 23802135 Free PMC article.
62 results