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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis SS; ABCA4-Study Group; Hoyng CB, Kämpjärvi K, Klaver CCW, Liskova P, Stöhr H, Weber BHF, Banfi S, Farrar GJ, Sharon D, Zernant J, Allikmets R, Dhaenens CM, Cremers FPM. Corradi Z, et al. Among authors: allikmets r. HGG Adv. 2023 Oct 12;4(4):100237. doi: 10.1016/j.xhgg.2023.100237. Epub 2023 Sep 12. HGG Adv. 2023. PMID: 37705246 Free PMC article.
Insights Into PROM1-Macular Disease Using Multimodal Imaging.
Paavo M, Lee W, Parmann R, Lima de Carvalho JR Jr, Zernant J, Tsang SH, Allikmets R, Sparrow JR. Paavo M, et al. Among authors: allikmets r. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):27. doi: 10.1167/iovs.64.4.27. Invest Ophthalmol Vis Sci. 2023. PMID: 37093133 Free PMC article.
iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.
Eade KT, Ansell BRE, Giles S, Fallon R, Harkins-Perry S, Nagasaki T, Tzaridis S, Wallace M, Mills EA, Farashi S, Johnson A, Sauer L, Hart B, Diaz-Rubio ME, Bahlo M, Metallo C, Allikmets R, Gantner ML, Bernstein PS, Friedlander M. Eade KT, et al. Among authors: allikmets r. J Clin Invest. 2023 May 1;133(9):e163771. doi: 10.1172/JCI163771. J Clin Invest. 2023. PMID: 37115691 Free PMC article.
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: allikmets r. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Systems genomics in age-related macular degeneration.
den Hollander AI, Mullins RF, Orozco LD, Voigt AP, Chen HH, Strunz T, Grassmann F, Haines JL, Kuiper JJW, Tumminia SJ, Allikmets R, Hageman GS, Stambolian D, Klaver CCW, Boeke JD, Chen H, Honigberg L, Katti S, Frazer KA, Weber BHF, Gorin MB. den Hollander AI, et al. Among authors: allikmets r. Exp Eye Res. 2022 Dec;225:109248. doi: 10.1016/j.exer.2022.109248. Epub 2022 Sep 13. Exp Eye Res. 2022. PMID: 36108770 Free PMC article.
The human ATP-binding cassette (ABC) transporter superfamily.
Dean M, Moitra K, Allikmets R. Dean M, et al. Among authors: allikmets r. Hum Mutat. 2022 Sep;43(9):1162-1182. doi: 10.1002/humu.24418. Epub 2022 Jun 22. Hum Mutat. 2022. PMID: 35642569 Free PMC article. Review.
257 results