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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: allikmets r. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Stargardt disease in a patient with retinoblastoma.
Margalit E, Sunness JS, Green WR, Kelman SE, Schachat AP, Fiergang D, Allikmets R. Margalit E, et al. Among authors: allikmets r. Arch Ophthalmol. 2003 Nov;121(11):1643-6. doi: 10.1001/archopht.121.11.1643. Arch Ophthalmol. 2003. PMID: 14609928 No abstract available.
Identification of a potential susceptibility locus for macular telangiectasia type 2.
Parmalee NL, Schubert C, Figueroa M, Bird AC, Peto T, Gillies MC, Bernstein PS, Kiryluk K, Terwilliger JD, Allikmets R; MacTel Project. Parmalee NL, et al. Among authors: allikmets r. PLoS One. 2012;7(8):e24268. doi: 10.1371/journal.pone.0024268. Epub 2012 Aug 31. PLoS One. 2012. PMID: 22952568 Free PMC article.
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.
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.
257 results