Oskari Timonen
Doctoral Researcher
Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences
[email protected] | +358 50 384 5404
PhD student in Doctoral Program in Molecular Medicine (DPMM) in Reetta Kälviäinen’s Clinical Epileptology research group. Supervisors are Jussi Paananen and Reetta Kälviäinen.
Research in epilepsy genetics: clinical exome sequencing data analysis and management, analysis pipeline development and REDCap management (phenotype data collection).
Publications
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Mar. 2024. Nature neuroscience. 27: 1864-1879 A1 Journal article (refereed), original research -
Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy
Saarela, Anni; Timonen, Oskari; Kirjavainen, Jarkko; Liu, Yawu; Silvennoinen, Katri; Mervaala, Esa; Kälviäinen, Reetta. 2024. Epileptic disorders. 26: 498-509 A1 Journal article (refereed), original research -
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
International League Against Epilepsy Consortium on Complex Epilepsies. 2023. Nature genetics. 55: 1471-1482 A1 Journal article (refereed), original research -
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Epi25 Collaborative [incl. Kälviäinen, Reetta; Timonen, Oskari]. 2021. American journal of human genetics. 108: 965-982 A1 Journal article (refereed), original research -
Varanto: variant enrichment analysis and annotation
Timonen, O; Särkkä, M; Fülöp, T; Mattsson, A; Kekäläinen, J; Paananen, J. 2019. Bioinformatics. 35: 3154-3156 A1 Journal article (refereed), original research -
Lentiviral protein transduction with genome-modifying HIV-1 integrase-I-PpoI fusion proteins: studies on specificity and cytotoxicity
Turkki Vesa, Schenkwein Diana, Timonen Oskari, Husso Tiia, Lesch Hanna P, Ylä-Herttuala Seppo. 2014. Biomed research international. 2014;2014:379340.: Article ID 379340 A1 Journal article (refereed), original research -
The postprandial plasma rye fingerprint includes benzoxazinoid-derived phenylacetamide sulfates
Hanhineva Kati, Keski-Rahkonen Pekka, Lappi Jenni, Katina Kati, Pekkinen Jenna, Savolainen Otto, Timonen Oskari, Paananen Jussi, Mykkänen Hannu, Poutanen Kaisa. 2014. Journal of nutrition. 144: 1016-22 A1 Journal article (refereed), original research -
rDNA-directed integration by an HIV-1 integrase--I-PpoI fusion protein
Schenkwein D, Turkki V, Ahlroth MK, Timonen O, Airenne KJ, Ylä-Herttuala S. 2012. Nucleic acids research. : -- A1 Journal article (refereed), original research