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Page 1
Vitelliform maculopathy in MELAS syndrome.
Jahrig C, Ku CA, Marra M, Pennesi ME, Yang P. Jahrig C, et al. Among authors: marra m. Am J Ophthalmol Case Rep. 2023 Apr 6;30:101842. doi: 10.1016/j.ajoc.2023.101842. eCollection 2023 Jun. Am J Ophthalmol Case Rep. 2023. PMID: 37096132 Free PMC article.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: marra m. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free 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: marra m. 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.
14 results