Research Output per year
Research Output per year
Personal profile
External positions
Professor, University of Oslo
1 Jan 2019 → …Fields of Science
- 3111 Biomedicine
International and National Collaboration
Publications and projects within past five years.
Publications
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Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
Partanen, T., Chen, J., Lehtonen, J., Kuismin, O., Rusanen, H., Vapalahti, O., Vaheri, A., Anttila, V-J., Bode, M., Hautala, N., Vuorinen, T., Glumoff, V., Kraatari, M., Åström, P., Saarela, J., Kauma, H., Lorenzo, L., Casanova, J-L., Zhang, S-Y., Seppänen, M. & 1 others, , Nov 2020, In : Journal of Clinical Immunology. 40, 8, p. 1156-1162 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation
Hannula-Jouppi, K., Harjama, L., Einarsdottir, E., Elomaa, O., Kettunen, K., Saarela, J., Soronen, M., Bouchard, L., Lappalainen, K., Heikkilä, H., Kivirikko, S., Seppänen, M. R. J., Kere, J. & Ranki, A., Aug 2020, In : Journal of the American Academy of Dermatology. 83, 2, p. 643-645 4 p.Research output: Contribution to journal › Letter › Scientific › peer-review
Open AccessFile -
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency
Tuovinen, E. A., Grönholm, J., Öhman, T., Pöysti, S., Toivonen, R., Kreutzman, A., Heiskanen, K., Trotta, L., Toiviainen-Salo, S., Routes, J. M., Verbsky, J., Mustjoki, S., Saarela, J., Kere, J., Varjosalo, M., Hänninen, A. & Seppänen, M. R. J., Apr 2020, In : Journal of Clinical Immunology. 40, 3, p. 503-514 12 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
Harjama, L., Kettunen, K., Elomaa, O., Einarsdottir, E., Heikkilä, H., Kivirikko, S., Lappalainen, K., Saarela, J., Alby, C., Ranki, A., Kere, J., Hadj-Rabia, S. & Hannula-Jouppi, K., Feb 2020, In : Acta Dermato-Venereologica. 100, 2, 2 p., 00060.Research output: Contribution to journal › Editorial › Scientific › peer-review
Open AccessFile -
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome
Hakonen, A. H., Lehtonen, J., Kivirikko, S., Keski-Filppula, R., Moilanen, J., Kivisaari, R., Almusa, H., Jakkula, E., Saarela, J., Avela, K. & Aittomäki, K., Nov 2020, In : American journal of medical genetics. Part A. 182, 11, p. 2605-2610 6 p.Research output: Contribution to journal › Article › Scientific › peer-review
Projects
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MultipleMS: Multiple manifestations of genetic and non-genetic factors in Multiple Sclerosis disentangled with a multi-omics approach to accelerate personalised medicine
01/01/2017 → 31/12/2021
Project: Research project
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FIMM Doctoral Training Committee
Repasky, G., Saarela, J. & Verschuren, E.
31/03/2014 → …
Project: Other project
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Rare Disease Diagnostic Awareness Project collaboration with Sanofi Oy
01/01/2016 → 31/12/2017
Project: Research project
Prizes
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2008 Kappa Delta Elisabeth Winston Lanier Award for Outstanding Orthopaedic Research
Saarela, Janna (Recipient), 5 Mar 2008
Prize: Prizes and awards
Activities
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Nordic symposium on synthetic data
Janna Saarela (Attendee)
18 Mar 2019Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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Nordic Alliance for Clinical Genomics workshop
Janna Saarela (Attendee)
6 May 2019 → 7 May 2019Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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EATRIS (External organisation)
Janna Saarela (Board member)
3 Dec 2019Activity: Membership types › Membership or other role in national/international committee, council, board
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Sanofi meeting
Janna Saarela (Attendee)
3 Sep 2019 → 4 Sep 2019Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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NACG symposium and workshop
Janna Saarela (Attendee)
19 Nov 2019 → 21 Nov 2019Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars