Research output per year
Research output per year
Personal profile
External positions
Vs osastonylilääkäri, HUS-kuntayhtymä HUS Diagnostiikkakeskus
Fields of Science
- 3111 Biomedicine
International and National Collaboration
Publications and projects within past five years.
-
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries
Hotakainen, R., Järvinen, T. T., Kettunen, K., Anttonen, A.-K. & Jakkula, E., Jan 2025, In: Genetics In medicine. 27, 1, 10 p., 101304.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma
Repo, P., Jakkula, E., Hiltunen, J., Putkuri, H., Staskiewicz-Tuikkanen, A., Järvinen, R.-S., Täll, M., Raivio, V., Al-Jamal, R., Kivelä, T. & Turunen, J., Jan 2025, In: Pigment Cell and Melanoma Research. 38, 1, 9 p., e13198.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Sikiö- ja alkiodiagnostiikka
Tanner, L. M. E., Salminen, E. & Stefanovic, V., 2025, Lääketieteellinen genetiikka. Kustannusosakeyhtiö Duodecim, p. 179-196Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional
-
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women
FinnGen, Mars, N., Kerminen, S., Tamlander, M., Pirinen, M., Jakkula, E., Aaltonen, K., Meretoja, T., Heinävaara, S., Widén, E., Ripatti, S., Hovatta, I. & Mäkitie, A., 1 May 2024, In: Journal of Clinical Oncology. 42, 13, p. 1477-1487 22 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations
Kandolin, M., Pöyhönen, M. & Jakkula, E., Jul 2024, In: American Journal of Medical Genetics, Part A. 194, 7, 11 p., e63588.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile
Projects
-
Carrier screening
Jakkula, E. (Project manager), Hotakainen, R. (Other) & Kandolin, M. (Other)
Project: Research project