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Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy.
Roshandel D, Thompson JA, Charng J, Zhang D, Chelva E, Arunachalam S, Attia MS, Lamey TM, McLaren TL, De Roach JN, Mackey DA, Wilton SD, Fletcher S, McLenachan S, Chen FK. Roshandel D, et al. Among authors: chelva e. Ophthalmic Genet. 2021 Feb;42(1):1-14. doi: 10.1080/13816810.2020.1827442. Epub 2020 Sep 27. Ophthalmic Genet. 2021. PMID: 32985313
A retinitis pigmentosa register for western Australia.
Chelva E, McLaren TL, Kay SM, Collins DW, Black JL, Candy DR. Chelva E, et al. Aust N Z J Ophthalmol. 1992 Nov;20(4):311-7. doi: 10.1111/j.1442-9071.1992.tb00743.x. Aust N Z J Ophthalmol. 1992. PMID: 1295526
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang D, Thompson JA, Charng J, Chelva E, McLenachan S, Chen SC, Zhang D, McLaren TL, Lamey TM, Constable IJ, De Roach JN, Aung-Htut MT, Adams A, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Among authors: chelva e. Mol Genet Genomic Med. 2020 Jul;8(7):e1259. doi: 10.1002/mgg3.1259. Epub 2020 Apr 23. Mol Genet Genomic Med. 2020. PMID: 32627976 Free PMC article.
23 results