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Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R, Efthymiou S, Suri M, Rahman F, Zaki MS, Maqbool S, Anwa N, Ruiz-Pérez VL, Yanovsky-Dagan S, Elpeleg O, Sudhakar S, Mankad K, Harel T, Houlden H. Maroofian R, et al. Among authors: yanovsky dagan s. J Med Genet. 2023 Aug;60(8):791-796. doi: 10.1136/jmg-2022-108566. Epub 2022 Dec 29. J Med Genet. 2023. PMID: 36581449 Free PMC article.
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing.
Mor-Shaked H, Paz-Ebstein E, Basal A, Ben-Haim S, Grobe H, Heymann S, Israel Z, Namnah M, Nitzan A, Rosenbluh C, Saada A, Tzur T, Yanovsky-Dagan S, Zaidel-Bar R, Harel T, Arkadir D. Mor-Shaked H, et al. Among authors: yanovsky dagan s. Brain Commun. 2021 Sep 6;3(3):fcab197. doi: 10.1093/braincomms/fcab197. eCollection 2021. Brain Commun. 2021. PMID: 34514401 Free PMC article.
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs.
Yanovsky-Dagan S, Frumkin A, Lupski JR, Harel T. Yanovsky-Dagan S, et al. HGG Adv. 2022 Jan 25;3(2):100092. doi: 10.1016/j.xhgg.2022.100092. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35199044 Free PMC article.
DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
Yanovsky-Dagan S, Cohen E, Megalli P, Altarescu G, Schonberger O, Eldar-Geva T, Epsztejn-Litman S, Eiges R. Yanovsky-Dagan S, et al. Eur J Hum Genet. 2022 Aug;30(8):980-983. doi: 10.1038/s41431-021-00999-3. Epub 2021 Nov 15. Eur J Hum Genet. 2022. PMID: 34776509 Free PMC article.
Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus.
Handal T, Juster S, Abu Diab M, Yanovsky-Dagan S, Zahdeh F, Aviel U, Sarel-Gallily R, Michael S, Bnaya E, Sebban S, Buganim Y, Drier Y, Mouly V, Kubicek S, van den Broek WJAA, Wansink DG, Epsztejn-Litman S, Eiges R. Handal T, et al. Among authors: yanovsky dagan s. Nat Commun. 2024 Apr 16;15(1):3270. doi: 10.1038/s41467-024-47217-4. Nat Commun. 2024. PMID: 38627364 Free PMC article.
15 results