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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: de roach jn. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Reply.
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.
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.
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.
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: de roach jn. 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.
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