Research Output per year
Personal profile
Keywords
- 3111 Biomedicine
International and National Collaboration
Publications and projects within past five years.
Publications 1995 2018
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients
Trotta, L., Martelius, T., Siitonen, T., Hautala, T., Hämäläinen, S., Juntti, H., Taskinen, M., Ilander, M., Andersson, E. I., Zavialov, A., Kaustio, M., Keski-Filppula, R., Hershfield, M., Mustjoki, S., Tapiainen, T., Seppänen, M. & Saarela, J., Apr 2018, In : Journal of Allergy and Clinical Immunology. 141, 4, p. 1534-+ 12 p.Research output: Contribution to journal › Letter › Scientific › peer-review
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
Trotta, L., Norberg, A., Taskinen, M., Beziat, V., Degerman, S., Wartiovaara-Kautto, U., Välimaa, H., Jahnukainen, K., Casanova, J-L., Seppänen, M., Saarela, J., Koskenvuo, M. & Martelius, T., 17 Aug 2018, In : Orphanet journal of rare diseases. 13, 9 p., 139.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access
File
Germline alterations in a consecutive series of acute myeloid leukemia
Wartiovaara-Kautto, U., Hirvonen, E. A. M., Pitkänen, E., Heckman, C., Saarela, J., Kettunen, K., Porkka, K. & Kilpivaara, O., Oct 2018, In : Leukemia. 32, 10, p. 2282-2285 4 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes
Kaustio, M., Haapaniemi, E., Göös, H., Hautala, T., Park, G., Syrjänen, J., Einarsdottir, E., Sahu, B., Kilpinen, S., Rounioja, S., Fogarty, C. L., Glumoff, V., Kulmala, P., Katayama, S., Tamene, F., Trotta, L., Morgunova, E., Krjutskov, K., Nurmi, K., Eklund, K. & 9 others, Sep 2017, In : Journal of Allergy and Clinical Immunology. 140, 3, p. 782-796 15 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access
File
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2
Hashem, H., Kumar, A. R., Muller, I., Babor, F., Bredius, R., Dalal, J., Hsu, A. P., Holland, S. M., Hickstein, D. D., Jolles, S., Krance, R., Sasa, G., Taskinen, M., Koskenvuo, M., Saarela, J., van Montfrans, J., Wilson, K., Bosch, B., Moens, L., Hershfield, M. & 2 others, 14 Dec 2017, In : Blood. 130, 24, p. 2682-2688 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
Projects 2014 2021
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
FIMM Doctoral Training Committee
Repasky, G., Saarela, J. S. & Verschuren, E. W.
31/03/2014 → …
Project: Other project
Rare Disease Diagnostic Awareness Project collaboration with Sanofi Oy
01/01/2016 → 31/12/2017
Project: Research project
Prizes
2008 Kappa Delta Elisabeth Winston Lanier Award for Outstanding Orthopaedic Research
Janna Saija Saarela (Recipient), 5 Mar 2008
Prize: Prizes and awards
Activities 2003 2017
Biopankkilainsäädännön ohjausryhmäkokous (Event)
Janna Saarela (Expert member)16 Jun 2017
Activity: Membership types › Membership or other role in national/international committee, council, board
The Laboratory for Molecular Infection Medicine Sweden (MIMS) committee member (Event)
Janna Saarela (Expert member)22 Nov 2017
Activity: Membership types › Membership or other role in national/international committee, council, board
Nordic clinical genomics data sharing workshop III/Copenhagen
Janna Saarela (Attendee)18 Apr 2017 → 19 Apr 2017
Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
EU-Life community meeting
Janna Saarela (Attendee)6 Nov 2017 → 7 Nov 2017
Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
BioMedical Engineering student's visit, FIMM
Janna Saarela (Participant)3 Mar 2017
Activity: Other activity types › Types for other activities - Other