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Year Number of Results
2012 2
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2018 6
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2020 11
2021 14
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Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, De Roach JN, Ayton LN, Vincent AL, Sharma A, Chen FK. Heath Jeffery RC, et al. Among authors: de roach jn. Ophthalmol Retina. 2023 Dec;7(12):e20-e21. doi: 10.1016/j.oret.2023.07.028. Epub 2023 Aug 28. Ophthalmol Retina. 2023. PMID: 37642631 No abstract available.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: roach jn. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK. Heath Jeffery RC, et al. Ophthalmic Genet. 2023 Aug;44(4):352-360. doi: 10.1080/13816810.2023.2196338. Epub 2023 Apr 4. Ophthalmic Genet. 2023. PMID: 37013444
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Heath Jeffery RC, Thompson JA, Lo J, Lamey TM, McLaren TL, McAllister IL, Constable IJ, De Roach JN, Chen FK. Heath Jeffery RC, et al. Among authors: de roach jn. Genes (Basel). 2021 Dec 14;12(12):1981. doi: 10.3390/genes12121981. Genes (Basel). 2021. PMID: 34946930 Free PMC article.
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Huang D, Thompson JA, Chen SC, Adams A, Pitout I, Lima A, Zhang D, Jeffery RCH, Attia MS, McLaren TL, Lamey TM, De Roach JN, McLenachan S, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Among authors: de roach jn. Exp Eye Res. 2022 Dec;225:109276. doi: 10.1016/j.exer.2022.109276. Epub 2022 Oct 6. Exp Eye Res. 2022. PMID: 36209838 Free 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: de roach jn. Ophthalmic Genet. 2021 Feb;42(1):1-14. doi: 10.1080/13816810.2020.1827442. Epub 2020 Sep 27. Ophthalmic Genet. 2021. PMID: 32985313
46 results