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.
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A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign
Karvonen, V., Harjama, L., Heliö, K., Kettunen, K., Elomaa, O., Koskenvuo, J. W., Kere, J., Weckström, S., Holmström, M., Saarela, J., Ranki, A., Heliö, T. & Hannula-Jouppi, K., Aug 2022, In: Journal of the European Academy of Dermatology and Venereology. 36, 8, p. 1349-1358 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I. J Clin Immunol. 2022 Oct;42(7):1580-1581. doi: 10.1007/s10875-022-01280-y.
Saarela, J., 1 Oct 2022, In: Journal of Clinical Immunology.Research output: Contribution to journal › Article › Scientific › peer-review
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Genetics of multiple sclerosis: lessons from polygenicity. Goris A, Vandebergh M, McCauley JL, Saarela J, Cotsapas C. Lancet Neurol. 2022 Sep;21(9):830-842. doi: 10.1016/S1474-4422(22)00255-1.
Saarela, J., 21 Sep 2022, In: Lancet Neurology.Research output: Contribution to journal › Article › Scientific › peer-review
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Implementing a Functional Precision Medicine Tumor Board for Acute Myeloid Leukemia
Malani, D., Kumar, A., Brück, O., Kontro, M., Yadav, B., Hellesoy, M., Kuusanmäki, H., Dufva, O., Kankainen, M., Eldfors, S., Potdar, S., Saarela, J., Turunen, L., Parsons, A., Västrik, I., Kivinen, K., Saarela, J., Räty, R., Lehto, M., Wolf, M., & 7 others, Feb 2022, In: Cancer Discovery. 12, 2, p. 388-401 14 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, Saarela J, Varjosalo M, Kere J, Hautala T, Seppänen MRJ.
Saarela, J., 8 Nov 2022, In: Clinical Immunology. 246Research output: Contribution to journal › Article › Scientific › peer-review
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Novel IEI genes: MAP4K1
University of Oslo Finse forskningssenter
01/01/2023 → 31/12/2023
Project: Other funder
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FIMM Doctoral Training Committee
Repasky, G., Saarela, J. & Verschuren, E.
31/03/2014 → …
Project: Other project
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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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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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Opponent for PhD thesis defence, Lies Van Horebeek, University of Leuven, Netherlands
Janna Saarela (Participant)
17 Mar 2022Activity: Other activity types › Types for other activities - Other
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Nordic Alliance for Clinical Genomics workshop
Janna Saarela (Scientific Committee Member)
28 Apr 2022 → 29 Apr 2022Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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EMBL Partnership meeting, Heidelberg, Germany
Janna Saarela (Scientific Committee Member)
22 Sep 2022 → 23 Sep 2022Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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Sanofi seminar for Gaucher’s disease
Janna Saarela (Speaker: Keynote)
7 Nov 2022Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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2nd Annual Meeting of Finnish Immunodeficiency Physicians 2022
Janna Saarela (Speaker: Presenter)
19 May 2022 → 20 May 2022Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars