Research output per year
Research output per year
International and National Collaboration
Publications and projects within past five years.
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Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Lehtonen, J., Sulonen, A-M., Almusa, H., Lehtokari, V-L., Johari, M., Palva, A., Hakonen, A. H., Wartiovaara, K., Lehesjoki, A-E., Udd, B., Wallgren-Pettersson, C., Pelin, K., Savarese, M. & Saarela, J., Dec 2024, In: Scientific Reports. 14, 1, 4306.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation
Eskici, N., Madhusudan, S., Vaaralahti, K., Yellapragada, V., Gomez-Sanchez, C., Kärkinen, J., Almusa, H., Brandstack, N., Miettinen, P. J., Wang, Y. & Raivio, T., 2 Aug 2023, In: European Journal of Endocrinology. 189, 2, p. 271-280 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci
Laaksonen, J., Mishra, P. P., Seppälä, I., Raitoharju, E., Marttila, S., Mononen, N., Lyytikäinen, L-P., Kleber, M. E., Delgado, G. E., Lepistö, M., Almusa, H., Ellonen, P., Lorkowski, S., März, W., Hutri-Kähönen, N., Raitakari, O., Kähönen, M., Salonen, J. T. & Lehtimäki, T., May 2022, In: Human Molecular Genetics. 31, 10, p. 1720–1732 13 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years
Hietamäki, J., Kärkinen, J., Iivonen, A. P., Vaaralahti, K., Tarkkanen, A., Almusa, H., Huopio, H., Hero, M., Miettinen, P. J. & Raivio, T., Sept 2022, In: EClinicalMedicine. 51, 21 p., 101556.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts
Laaksonen, J., Mishra, P. P., Seppälä, I., Lyytikäinen, L-P., Raitoharju, E., Mononen, N., Lepistö, M., Almusa, H., Ellonen, P., Hutri-Kähönen, N., Juonala, M., Raitakari, O., Kähönen, M., Salonen, J. T. & Lehtimäki, T., 12 Jan 2021, In: Scientific Reports. 11, 1, 8 p., 611.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile