Research output per year
Research output per year
Personal profile
External positions
Co-PI, Administrative leader, Folkhälsan Research Centre, Folkhälsan Institute of Genetics
2012 → …
Fields of Science
- 1184 Genetics, developmental biology, physiology
- human genetics
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report
Laarne, M., Oghabian, A., Laitila, J., Isohanni, P., Tynninen, O., Zhao, F., Rostedt, F., Sarparanta, J., Sagath, L., Lawlor, M. W., Wallgren-Pettersson, C., Lehtokari, V.-L. & Pelin, K., 21 May 2025, In: Journal of neuromuscular diseases. 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Ross, J. E., Flowers, M., McNulty, S., Patel, M., Yang, H., Palus, B., Elnagheeb, M. A., Eng, L., Owens, E., Beggs, A. H., Bertini, E., D'Amico, A., Donkervoort, S., Dowling, J., Fattori, F., Ferreiro, A., Genetti, C. A., Gonorazky, H., Lek, M. & Lindy, A. & 11 others, , 10 Jun 2025, In: Journal of neuromuscular diseases. 15 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Sagath, L., Kiiski, K., Naidu, K., Patel, K., Jonson, P. H., Laarne, M., Djordjevic, D., Yoon, G., LaGroon, A., Rogers, C., Galindo, M. K., Scherer, K., Kunstmann, E., Koparir, E., Ho, D., Davis, M., Joshi, P., Zygmunt, A., Orbach, R. & Donkervoort, S. & 11 others, , 14 Jun 2025, In: European Journal of Human Genetics. 10 p.Research output: Contribution to journal › Review Article › peer-review
Open AccessFile -
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
Lehtokari, V.-L., Sagath, L., Davis, M., Ho, D., Kiiski, K., Kettunen, K., Demczko, M., Stein, R., Vatta, M., Winder, T. L., Shohet, A., Orenstein, N., Krcho, P., Bohuš, P., Huovinen, S., Udd, B., Pelin, K., Laing, N. G. & Wallgren-Pettersson, C., Jan 2024, In: Neuromuscular Disorders. 34, p. 32-40 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Genetics of the congenital myopathies
Pelin, K., 30 Nov 2024, eLS. John Wiley & Sons Ltd., Vol. 3. p. 1-11 11 p.Research output: Chapter in Book/Report/Conference proceeding › Entry for encyclopedia / dictionary › Scientific › peer-review
Projects
- 1 Active
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Nemaline myopathy and other neuromuscular disorders
Wallgren-Pettersson, C. (Principal Investigator), Pelin, K. (Participant), Lehtokari, V.-L. (Participant), Hanif, M. (Participant), Marttila, M. (Participant), Kiiski, K. (Participant) & Laitila, J. (Participant)
01/01/1985 → …
Project: Research project
Activities
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Acta Neurologica Belgica (Journal)
Pelin, K. (Reviewer)
27 May 2025Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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BMC Pediatrics (Journal)
Pelin, K. (Reviewer)
13 Mar 2025Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Science translational medicine (Journal)
Pelin, K. (Reviewer)
12 Jun 2025Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Acta Neuropathologica (Journal)
Pelin, K. (Reviewer)
15 Jan 2024Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Supervision of doctoral dissertation
Pelin, K. (Co-supervisor)
22 Nov 2024Activity: Examination types › Supervisor or co-supervisor of doctoral thesis