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Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Beck DB, et al. Among authors: talvik i. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan. Sci Adv. 2021. PMID: 33523931 Free PMC article.
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: talvik i. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann GF, Kotzaeridou U, Lichvarova L, Liiv M, Makowski C, Mandel M, Meitinger T, Pajusalu S, Rodenburg RJ, Safiulina D, Strom TM, Talvik I, Vaarmann A, Wilson C, Kaasik A, Haack TB, Õunap K. Puusepp S, et al. Among authors: talvik i. Eur J Hum Genet. 2018 Mar;26(3):407-419. doi: 10.1038/s41431-017-0001-6. Epub 2018 Jan 17. Eur J Hum Genet. 2018. PMID: 29343804 Free PMC article.
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Pajusalu S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T. Pajusalu S, et al. Among authors: talvik i, talvik t. Neuromuscul Disord. 2016 Mar;26(3):236-9. doi: 10.1016/j.nmd.2015.11.011. Epub 2015 Dec 3. Neuromuscul Disord. 2016. PMID: 26782017
The live-birth prevalence of mucopolysaccharidoses in Estonia.
Krabbi K, Joost K, Zordania R, Talvik I, Rein R, Huijmans JG, Verheijen FV, Õunap K. Krabbi K, et al. Among authors: talvik i. Genet Test Mol Biomarkers. 2012 Aug;16(8):846-9. doi: 10.1089/gtmb.2011.0307. Epub 2012 Apr 5. Genet Test Mol Biomarkers. 2012. PMID: 22480138 Free PMC article.
65 results