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Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.
McLenachan S, Zhang D, Grainok J, Zhang X, Huang Z, Chen SC, Zaw K, Lima A, Jennings L, Roshandel D, Moon SY, Heath Jeffery RC, Attia MS, Thompson JA, Lamey TM, McLaren TL, De Roach J, Fletcher S, Chen FK. McLenachan S, et al. Among authors: fletcher s. Genes (Basel). 2021 Sep 28;12(10):1542. doi: 10.3390/genes12101542. Genes (Basel). 2021. PMID: 34680937 Free PMC article.
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: fletcher s. 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.
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: fletcher s. Ophthalmic Genet. 2021 Feb;42(1):1-14. doi: 10.1080/13816810.2020.1827442. Epub 2020 Sep 27. Ophthalmic Genet. 2021. PMID: 32985313
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene.
Zaw K, Wong EYM, Zhang X, Zhang D, Chen SC, Thompson JA, Lamey T, McLaren T, De Roach JN, Wilton SD, Fletcher S, Mitrpant C, Atlas MD, Chen FK, McLenachan S. Zaw K, et al. Among authors: fletcher s. Stem Cell Res. 2020 Dec 16;50:102129. doi: 10.1016/j.scr.2020.102129. Online ahead of print. Stem Cell Res. 2020. PMID: 33360097 Free article.
Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.
Huang D, Zhang D, Chen SC, Aung-Htut MT, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Fletcher S, Wilton SD, Chen FK, McLenachan S. Huang D, et al. Among authors: fletcher s. Stem Cell Res. 2021 Jul;54:102448. doi: 10.1016/j.scr.2021.102448. Epub 2021 Jun 24. Stem Cell Res. 2021. PMID: 34198153 Free article.
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Huang D, Zhang D, Chen SC, Thandar Aung-Htut M, Lamey TM, Thompson JA, McLaren TL, De Roach JN, Fletcher S, Wilton SD, McLenachan S, Chen FK. Huang D, et al. Among authors: fletcher s. Stem Cell Res. 2021 Jul;54:102439. doi: 10.1016/j.scr.2021.102439. Epub 2021 Jun 24. Stem Cell Res. 2021. PMID: 34214897 Free article.
1,484 results