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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: lee w. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.
Allikmets R, Zernant J, Lee W. Allikmets R, et al. Among authors: lee w. Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5564-5565. doi: 10.1167/iovs.18-25579. Invest Ophthalmol Vis Sci. 2018. PMID: 30480703 Free PMC article. No abstract available.
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.
Nõupuu K, Lee W, Zernant J, Greenstein VC, Tsang S, Allikmets R. Nõupuu K, et al. Among authors: lee w. Graefes Arch Clin Exp Ophthalmol. 2016 May;254(5):865-72. doi: 10.1007/s00417-015-3142-8. Epub 2015 Aug 28. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 26311262 Free PMC article.
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