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Page 1
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: zara f. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background.
Tomati V, Costa S, Capurro V, Pesce E, Pastorino C, Lena M, Sondo E, Di Duca M, Cresta F, Cristadoro S, Zara F, Galietta LJV, Bocciardi R, Castellani C, Lucanto MC, Pedemonte N. Tomati V, et al. Among authors: zara f. J Cyst Fibros. 2023 May;22(3):525-537. doi: 10.1016/j.jcf.2022.12.005. Epub 2022 Dec 19. J Cyst Fibros. 2023. PMID: 36543707
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Among authors: zara f. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: zara f. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
511 results