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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. Cancers (Basel). 2023 Jul 18;15(14):3663. doi: 10.3390/cancers15143663. Cancers (Basel). 2023. PMID: 37509324 Free PMC article. Review.
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. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171