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Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T. Rots D, et al. Among authors: fjodorova o. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Roht L, Laidre P, Tooming M, Tõnisson N, Nõukas M, Nurm M, Estonian Biobank Research Team, Roomere H, Rekker K, Toome K, Fjodorova O, Murumets Ü, Šamarina U, Pajusalu S, Aaspõllu A, Salumäe L, Muhu K, Soplepmann J, Õunap K, Kahre T. Roht L, et al. Among authors: fjodorova o. Cancers (Basel). 2023 Jul 18;15(14):3663. doi: 10.3390/cancers15143663. Cancers (Basel). 2023. PMID: 37509324 Free PMC article. Review.
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Linders PTA, Gerretsen ECF, Ashikov A, Vals MA, de Boer R, Revelo NH, Arts R, Baerenfaenger M, Zijlstra F, Huijben K, Raymond K, Muru K, Fjodorova O, Pajusalu S, Õunap K, Ter Beest M, Lefeber D, van den Bogaart G. Linders PTA, et al. Among authors: fjodorova o. Nat Commun. 2021 Oct 28;12(1):6227. doi: 10.1038/s41467-021-26534-y. Nat Commun. 2021. PMID: 34711829 Free PMC article.
TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting.
Teder H, Koel M, Paluoja P, Jatsenko T, Rekker K, Laisk-Podar T, Kukuškina V, Velthut-Meikas A, Fjodorova O, Peters M, Kere J, Salumets A, Palta P, Krjutškov K. Teder H, et al. Among authors: fjodorova o. NPJ Genom Med. 2018 Dec 18;3:34. doi: 10.1038/s41525-018-0072-5. eCollection 2018. NPJ Genom Med. 2018. PMID: 30588329 Free PMC article.