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Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Jürgens H, Roht L, Leitsalu L, Nõukas M, Palover M, Nikopensius T, Reigo A, Kals M, Kallak K, Kütner R, Budrikas K, Kuusk S, Valvere V, Laidre P, Toome K, Rekker K, Tooming M, Ülle Murumets, Kahre T, Kruuv-Käo K, Õunap K, Padrik P, Metspalu A, Esko T, Fischer K, Tõnisson N. Jürgens H, et al. Among authors: nikopensius t. Front Genet. 2022 Jul 22;13:881100. doi: 10.3389/fgene.2022.881100. eCollection 2022. Front Genet. 2022. PMID: 35938029 Free PMC article.
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. Among authors: nikopensius t. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161
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: nikopensius 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
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
Alver M, Palover M, Saar A, Läll K, Zekavat SM, Tõnisson N, Leitsalu L, Reigo A, Nikopensius T, Ainla T, Kals M, Mägi R, Gabriel SB, Eha J, Lander ES, Irs A, Philippakis A, Marandi T, Natarajan P, Metspalu A, Kathiresan S, Esko T. Alver M, et al. Among authors: nikopensius t. Genet Med. 2019 May;21(5):1173-1180. doi: 10.1038/s41436-018-0311-2. Epub 2018 Oct 1. Genet Med. 2019. PMID: 30270359 Free PMC article.
41 results