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Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene.
McLenachan S, Wong EYM, Zhang X, Leith F, Moon SY, Zhang D, Chen SC, Thompson JA, McLaren T, Lamey T, De Roach JN, Atlas MD, Dilley RJ, Chen FK. McLenachan S, et al. Among authors: zhang d, zhang x. Stem Cell Res. 2019 Apr;36:101420. doi: 10.1016/j.scr.2019.101420. Epub 2019 Mar 16. Stem Cell Res. 2019. PMID: 30904819 Free article.
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
Chen FK, Zhang X, Eintracht J, Zhang D, Arunachalam S, Thompson JA, Chelva E, Mallon D, Chen SC, McLaren T, Lamey T, De Roach J, McLenachan S. Chen FK, et al. Among authors: zhang d, zhang x. Doc Ophthalmol. 2019 Feb;138(1):55-70. doi: 10.1007/s10633-018-9665-7. Epub 2018 Nov 16. Doc Ophthalmol. 2019. PMID: 30446867
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants.
Zhang X, Thompson JA, Zhang D, Charng J, Arunachalam S, McLaren TL, Lamey TM, De Roach JN, Jennings L, McLenachan S, Chen FK. Zhang X, et al. Among authors: zhang d. Mol Genet Genomic Med. 2020 Nov;8(11):e1489. doi: 10.1002/mgg3.1489. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931148 Free PMC article.
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: zhang d, zhang x. 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 recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200.
Zhang D, McLenachan S, Chen SC, Zaw K, Alziyadat Y, Zhang X, Lamey TM, Thompson JA, McLaren TL, Mellough C, De Roach JN, Chen FK. Zhang D, et al. Among authors: zhang x. Stem Cell Res. 2021 Mar;51:102154. doi: 10.1016/j.scr.2020.102154. Epub 2021 Jan 5. Stem Cell Res. 2021. PMID: 33429167 Free article.
168,154 results
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