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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: matynia a. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Long wavelength light reduces the negative consequences of dim light at night.
Wang HB, Zhou D, Luk SHC, In Cha H, Mac A, Chae R, Matynia A, Harrison B, Afshari S, Block GD, Ghiani CA, Colwell CS. Wang HB, et al. Among authors: matynia a. Neurobiol Dis. 2023 Jan;176:105944. doi: 10.1016/j.nbd.2022.105944. Epub 2022 Dec 6. Neurobiol Dis. 2023. PMID: 36493974 Free PMC article.
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. Wen S, et al. Among authors: matynia a. bioRxiv [Preprint]. 2023 Jan 3:2023.01.02.522522. doi: 10.1101/2023.01.02.522522. bioRxiv. 2023. PMID: 36789417 Free PMC article. Updated. Preprint.
56 results