Research output per year
Research output per year
Fingerprint
Dive into the research topics where KI, OUH, Clinical Genome Center (Odense) is active. These topic labels come from the works of this organisation's researchers. Together they form a unique fingerprint.
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
Researchers
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Susanne Eriksen Boonen
- Department of Clinical Research
- KI, OUH, Research unit of Clinical Genetics (Odense) - Clinical Associate Professor
- KI, OUH, Clinical Genome Center (Odense) - Visiting researcher
Person: VIP
Research output
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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
Bradbrook, S. M., Graham, G., Carter, M. T., Kibaek, M., Fagerberg, C., Larsen, M. J., Dawson, K., Meuter, C., Pepler, A., Besnard, T., Vincent, M., Isidor, B., Bezieau, S., Cogne, B., Bjørgo, K., Amundsen, S. S., Courtin, T., Emrick, L., Rosenfeld, J. A. & Weisz-Hubshman, M. & 22 others, , Jan 2026, In: American Journal of Medical Genetics Part A. 200, 1, p. 244-252Research output: Contribution to journal › Journal article › Research › peer-review
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A Case-Driven Multi-Omics Analysis for Longitudinal Ibrutinib Response Evaluation of Patients With Chronic Lymphocytic Leukemia
Veyhe, S. R., Hansen, M. H., Cédile, O., Møller, M. B., Nielsen, M. K., Thomassen, M., Juul-Jensen, K., Frederiksen, H., Dybkær, K. & Nyvold, C. G., Jun 2025, In: European Journal of Haematology. 114, 6, p. 973-981Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile28 Downloads (Pure) -
Advances in single-cell omics: Transformative applications in basic and clinical research
Inayatullah, M., Dwivedi, A. K. & Tiwari, V. K., Aug 2025, In: Current Opinion in Cell Biology. 95, 10 p., 102548.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile19 Downloads (Pure) -
Aortic Aneurysm Risk and the Somatic JAK2 V617F Mutation: Insights From a Multicenter, Population-Based Cardiovascular Screening Study
Obel, L. M., Skovbo, J. S., Diederichsen, A. C. P., Thomassen, M., Kjær, L., Larsen, M. K., Knudsen, T. A., Skov, V., Kruse, T. A., Burton, M., Dembic, M., Wienecke, T., Sabater-Lleal, M., Gerke, O., Bruun, N. E., Ellervik, C., Brabrand, M., Steffensen, F. H., Frost, L. & Lambrechtsen, J. & 8 others, , 5. Aug 2025, In: Circulation. 152, 5, p. 300-312Research output: Contribution to journal › Journal article › Research › peer-review
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
Nicastro, M., Vermeer, A. M. C., Postema, P. G., Tadros, R., Bowling, F. Z., Aegisdottir, H. M., Tragante, V., Mach, L., Postma, A. V., Lodder, E. M., van Duijvenboden, K., Zwart, R., Beekman, L., Wu, L., Jurgens, S. J., van der Zwaag, P. A., Alders, M., Allouba, M., Aguib, Y. & Santome, J. L. & 51 others, , 3. Jul 2025, In: American Journal of Human Genetics. 112, 7, p. 1681-1698Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile4 Downloads (Pure)
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Præsentation: Præliminære resultater af Sammenligning af HRDetect og ShallowHRD
Jensen, L. A. (Guest lecturer)
8. Nov 2025Activity: Talks and presentations › Conference presentations
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Ugeskrift for Læger (Journal)
Bygum, A. (Peer reviewer)
8. Nov 2025Activity: Editorial work and peer review › Peer review of manuscripts › Research
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The Lancet (Journal)
Bygum, A. (Peer reviewer)
3. Aug 2025Activity: Editorial work and peer review › Peer review of manuscripts › Research
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The Lancet (Journal)
Bygum, A. (Peer reviewer)
3. Aug 2025Activity: Editorial work and peer review › Peer review of manuscripts › Research
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Presentation: Preliminary Results of Long-read RNA-seq Project
Jensen, L. A. (Guest lecturer)
18. Jun 2025Activity: Talks and presentations › Conference presentations
Projects
- 2 Active
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kConfab long-read: Comparison of Long-read sequencing methods and bioinformatics pipelines for splicing analysis of breast cancer genes in BRCA1/2 spliceogenic variant cell lines
Jensen, L. A. (Project participant), Thomassen, M. (Project manager), Hansen, T. V. O. (Working partner), Feliubadaló, L. (Working partner), Terrón, P. R. (Project participant), Katzke, A.-L. (Project participant), Birkedal, U. (Project participant), Thomsen, J. H. D. (Project participant), Moreno-Cabrera, J. M. (Project participant), Burton, M. (Project participant), Bøttger, S. M. (Project participant), Hikmat, Z. (Project participant), Forster, J. (Project participant), Schmidt, G. (Working partner), Hauke, J. (Working partner), Lazaro, C. (Working partner), Baralle, D. (Working partner) & Pedersen, I. S. (Working partner)
15/08/2022 → 30/06/2026
Project: Research
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BRCAX: Molekylær Tumorprofilering af Arvelig Brystkræft til Forbedring af Rådgivning og Behandling
Jensen, L. A. (PhD student), Thomassen, M. (Principal supervisor) & Hansen, T. V. O. (Co-supervisor)
01/01/2023 → 10/03/2026
Project: PhD Project
Press/Media
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De frygtede at give arvelig sygdom videre – nu er otte raske børn født
20/07/2025
1 Media contribution
Press/Media: Press / Media
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Giver det dårligere gener, når mor er fars kusine?
25/10/2024
1 Media contribution
Press/Media: Press / Media
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Giver det dårligere gener, når mor er fars kusine?
16/10/2024
1 Media contribution
Press/Media: Press / Media
Teaching & Supervision
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ISA: Comparison of long-read and short-read sequencing of familial breast cancer patients to verify mutational signatures
Thomassen, M. & Jensen, L. A. 01/02/2025 → 31/07/2025
Course: Teaching and supervision › Supervision
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Splicing effect of BRCA1 and BRCA2 mutations in patient samples by comparison of short- and long-read RNA sequencing data
Thomassen, M. & Jensen, L. A. 01/02/2024 → 31/07/2024
Course: Teaching and supervision › Supervision