Research output per year
Research output per year
Personal profile
Fields of Science
- 3112 Neurosciences
- 3111 Biomedicine
- 1184 Genetics, developmental biology, physiology
International and National Collaboration
Publications and projects within past five years.
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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 -
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma
Brandt, E., Harjama, L., Elomaa, O., Saarela, J., Donner, K., Lappalainen, K., Kivirikko, S., Ranki, A., Kere, J., Kettunen, K. & Hannula-Jouppi, K., Feb 2024, In: Journal of the European Academy of Dermatology and Venereology. 38, 2, p. 413-418 6 p.Research output: Contribution to journal › Article › Scientific › 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 -
Early-Onset Common Variable Immunodeficiency in a Patient with Heterozygous Variants in Interferon Response-Associated Genes TRAF3 and IRF4
Le, K. M., Mamia, N., Kaustio, M., Keskitalo, S., Kettunen, K., Kere, J., Varjosalo, M., Seppänen, M., Martelius, T., Saarela, J. & Grönholm, J., May 2024, In: Clinical Immunology. 262, 3 p., 109991.Research output: Contribution to journal › Meeting Abstract › peer-review
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Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features
Hyvönen, H., Kettunen, K., Avela, K., Kivirikko, S., Jeskanen, L., Suominen, S., Salminen, P. & Hannula-Jouppi, K., 7 Dec 2024, In: Pediatric Dermatology. 5 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile
Projects
- 2 Finished
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Digital Health Revolution 2
Sallinen, R. J. (Project manager), Kaunisto, M. (Participant), Kettunen, K. (Participant) & Kallioniemi, O. (Principal Investigator)
01/12/2016 → 31/03/2019
Project: Research project
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Digital Health Revolution
Sallinen, R. J. (Project manager), Kallioniemi, O. (Project manager), Kettunen, K. (Project manager) & Kaunisto, M. (Project manager)
01/08/2014 → 30/11/2016
Project: Research project
Prizes
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Award for Nordic Obesity Excellence in Nordic Obesity Meeting, 2007.
Kettunen, K. (Recipient), 2007
Prize: Prizes and awards
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Best poster in Eating behaviour and obesity ‐workshop and Neuroendocrinological regulation of food intake –course, 2006.
Kettunen, K. (Recipient), 2006
Prize: Prizes and awards
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Suomen Endokrinologiyhdistys, Nuoren tutkijan palkinto 2004.
Kettunen, K. (Recipient), 2004
Prize: Prizes and awards
Activities
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Nordic Alliance for Clinical Genomics (NACG), working group co-leader "Benchmarking, Harmonization and Standardization" (External organisation)
Kettunen, K. (Expert member)
21 Nov 2018 → …Activity: Membership types › Membership or other role in national/international committee, council, board
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Nordic Alliance for Clinical Genomics (NACG) 6th Clincal Workshop
Kettunen, K. (Attendee)
21 Nov 2018Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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Insinöörityön ohjaus
Kettunen, K. (Supervisor)
2016 → …Activity: Examination types › Supervision of other thesis (Master's, Licentiate)
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Luento: Germline mutation analysis of clinical samples
Kettunen, K. (Speaker)
6 Jun 2016Activity: Talk or presentation types › Oral presentation
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Luento: Eksomisekvensointi harvinaissairauksien diagnostiikassa
Kettunen, K. (Speaker)
14 Oct 2016Activity: Talk or presentation types › Oral presentation