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Keywords

  • 3111 Biomedicine

International and National Collaboration Publications and projects within past five years.

Publications 2016 2019

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., Karhu, A., Taira, A., Tanskanen, T., Alkodsi, A., Taipale, M., Morgunova, E., Franssila, K., Lehtonen, R., Mäkinen, M., Aittomäki, K. & 15 othersPalotie, A., Kurki, M., Pietiläinen, O., Hilpert, M., Saarentaus, E., Niinimäki, J., Junttila, J., Kaikkonen, K., Vahteristo, P., Skoda, R. C., Seppänen, M. R. J., Eklund, K. K., Taipale, J., Kilpivaara, O. & Aaltonen, L. A., 19 Mar 2019, In : Nature Communications. 10, 17 p., 1252.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

Rajamäki, K., Keskitalo, S., Seppänen, M., Kuismin, O., Vähäsalo, P., Trotta, L., Väänänen, A., Glumoff, V., Keskitalo, P., Kaarteenaho, R., Jartti, A., Hautala, N., Jackson, P., Nordström, D. C., Saarela, J., Hautala, T., Eklund, K. K. & Varjosalo, M., 1 Oct 2018, In : RMD open. 4, 2, e000740.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M. & 15 othersKlinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkila, S., Pietilainen, O., Palotie, A., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B., Kortuem, F. & Undiagnosed Dis Network, 6 Oct 2016, In : American Journal of Human Genetics. 99, 4, p. 991-999 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access