KI, OUH, Research unit of Clinical Genetics (Odense)

Katrine Saldern Aagaard
- kaagaardhealth.sdudk
- Department of Clinical Research
- KI, OUH, Research unit of Clinical Genetics (Odense) - Ph.D. Student
Person: VIP
Charlotte Brasch Andersen
- cbandersenhealth.sdudk
- Department of Clinical Research
- KI, OUH, Research unit of Clinical Genetics (Odense) - Associate Professor
Person: VIP
Caroline Hey Bækgaard
- carohbhealth.sdudk
- Department of Clinical Research
- KI, OUH, Research unit of Clinical Genetics (Odense) - Guest Researcher
Person: VIP
Susanne Eriksen Boonen
- sboonenhealth.sdudk
- susanne.eriksen.boonenrsyddk
- 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
Mark Burton
- maburtonhealth.sdudk
- Department of Clinical Research
- KI, OUH, Research unit of Clinical Genetics (Odense) - Assistant Professor
- KI, OUH, Clinical Genome Center (Odense) - VIP
Person: VIP

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. 973-981
Research output: Contribution to journal › Journal article › Research › peer-review

Open Access
File
26 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 Access
File
18 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, Busk, M., Urbonaviciene, G., Egstrup, K., Karon, M., Feddersen, S., Rasmussen, L. M., Hasselbalch, H. C. & Lindholt, J. S., 5. Aug 2025, In: Circulation. 152, 5, p. 300-312
Research output: Contribution to journal › Journal article › Research › peer-review
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
Vulto-van Silfhout, A. T., Jazet, I. M., Yzer, S., Pas, J., Demirdas, S., van Rossum, E. F. C., Thiadens, A. A. H. J., van Beek, R., Haer-Wigman, L., Barge-Schaapveld, D. Q. C. M., Brasch-Andersen, C., Frost, S., Bauwens, M., De Baere, E., Balikova, I., Van den Broeck, F., Weisz-Hubshman, M., Joset, P., Miny, P. & Filges, I. & 24 others, Kohl, S., De Angeli, P., Kühlewein, L., Bodenbender, J. P., Haack, T., Poths, K., Fernandez-Caballero, L., Corton, M., Blanco Kelly, F., Ayuso, C., Martínez-Esteban, P., Vissing, J., Díaz-Manera, J., Straub, V., Töpf, A., Lin, S., Arno, G., Macken, W. L., Spillane, J., Ramachandran, R., de Vrieze, E., van Ham, T., Roosing, S. & Oud, M. M., Oct 2025, In: Genetics in Medicine. 27, 10, 15 p., 101513.
Research output: Contribution to journal › Journal article › Research › peer-review

Open Access
File
2 Downloads (Pure)
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, de Una, D., Monserrat, L., Miranda, A. M. A., Kanemaru, K., Cranley, J., van Zeggeren, I. E., Aronica, E. M. A., Ripolone, M., Zanotti, S., Sveinbjornsson, G., Ivarsdottir, E. V., Hólm, H., Guðbjartsson, D. F., Skúladóttir, Á. T., Stefánsson, K., Nadauld, L., Knowlton, K. U., Ostrowski, S. R., Sørensen, E., Vesterager Pedersen, O. B., Ghouse, J., Rand, S. A., Bundgaard, H., Ullum, H., Erikstrup, C., Aagaard, B., Bruun, M. T., Christiansen, M., Jensen, H. K., Carere, D. A., Cummings, C. T., Fishler, K., Tørring, P. M., Brusgaard, K., Juul, T. M., Saaby, L., Winkel, B. G., Mogensen, J., Fortunato, F., Comi, G. P., Ronchi, D., van Tintelen, J. P., Noseda, M., Airola, M. V., Christiaans, I., Wilde, A. A. M., Wilders, R., Clur, S. A., Verkerk, A. O., Bezzina, C. R. & Lahrouchi, N., 3. Jul 2025, In: American Journal of Human Genetics. 112, 7, p. 1681-1698
Research output: Contribution to journal › Journal article › Research › peer-review

Open Access
File
3 Downloads (Pure)

Opportunities and challenges in an aging society - how can aging research help?
Christensen, K. (Lecturer)
13. Nov 2025
Activity: Talks and presentations › Conference presentations
Præsentation: Præliminære resultater af Sammenligning af HRDetect og ShallowHRD
Jensen, L. A. (Guest lecturer)
8. Nov 2025
Activity: Talks and presentations › Conference presentations
Ugeskrift for Læger (Journal)
Bygum, A. (Peer reviewer)
8. Nov 2025
Activity: Editorial work and peer review › Peer review of manuscripts › Research
Age-integrated Housing and Neighbourhoods-symposium: panel of approaches
Christensen, K. (Panel member)
22. Oct 2025
Activity: Talks and presentations › Conference presentations
Hvor længe kan vi leve? Presentation of new scientific knowledge
Christensen, K. (Participant)
11. Sept 2025
Activity: Other activities › Other

1 Not started
3 Active
15 Finished

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
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
Epigenetic signature of early-life exposure to the Great Chinese Famine 1959-1961
Tan, Q. (PI) & Li, S. (Project participant)
01/07/2016 → 30/06/2020
Project: Research Councils
Epigenetic signature of early-life exposure to the Great Chinese Faming
Tan, Q. (PI)
01/01/2015 → 31/12/2019
Project: Private Foundations
Epigenetic biomarkers as indicator and predictor of late-life mortality in the elderly
Tan, Q. (PI) & Li, S. (Project participant)
01/01/2016 → 31/12/2019
Project: Private Foundations

Genome-wide DNA methylation analysis in monozygotic twins identifies potential biomarkers of fasting plasma glucose
Wang, W. (Creator), Yao, W. (Creator), Tan, Q. (Creator), Li, S. (Creator), Duan, H. (Creator), Tian, X. (Creator), Xu, C. (Creator) & Zhang, D. (Creator), Dryad Digital Repository, 18. Jul 2022
DOI: 10.5061/dryad.xsj3tx9hd
Dataset

Giv dit hudplejeordforråd et eftersyn – start med A for anti-age #2
Christensen, K.
04/12/2025
1 Media contribution
Press/Media: Press / Media
Sådan mærker hospitalerne, at alderdommen har ændret sig
Christensen, K.
31/10/2025
1 Media contribution
Press/Media: Press / Media
Synet på alderdom har ændret sig – og det kan mærkes på hospitalsgangene
Christensen, K.
27/10/2025
1 Media contribution
Press/Media: Press / Media
Jeg blev overrasket, da professor kom med befriende budskab om farligt mavefedt: Det er nemmere, end vi tror
Christensen, K.
30/09/2025
1 Media contribution
Press/Media: Press / Media
Han ved alt om 100-årige og tordner mod hurtige løsninger i jagten på et meget langt liv
Christensen, K.
27/09/2025
1 Media contribution
Press/Media: Press / Media

Best PhD Poster Presentation
Gram, S. B. (Recipient), Nov 2023
Prize: Prizes, scholarships, distinctions
Syddansk Universitets Innovationspris
Thiele, M. (Recipient), Mai, A. M. (Recipient), Simonsen, P. (Recipient), Maagaard, C. A. A. (Recipient), Wohlmann, A. (Recipient), Rasmussen, A. J. (Recipient), Schwartz, C. (Recipient), Sodemann, M. (Recipient), Nielsen, A. S. (Recipient), Folker, A. P. (Recipient), Kristensen, M. M. (Recipient), Hansen, H. P. (Recipient), Andersen, M. K. (Recipient) & Bygum, A. (Recipient), Nov 2023
Prize: Prizes, scholarships, distinctions
Syddansk Universitets Innovationspris 2023
Bygum, A. (Recipient), 27. Oct 2023
Prize: Prizes, scholarships, distinctions
The 44th annual Dobzhansky Award for outstanding lifetime contributions to the field of behavior genetics
Christensen, K. (Recipient), 2022
Prize: Prizes, scholarships, distinctions
The Sohlberg Nordic Prize in Gerontology
Christensen, K. (Recipient), 22. Jun 2016
Prize: Prizes, scholarships, distinctions

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
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
Biostatistics in R part II at BMB, SDU
Tan, Q.
20/12/2021 → 20/12/2021
Course: Teaching and supervision › Teaching
Epigenome-wide association analysis of bone resorption and clinical factors (Master thesis, 60 ECTS)
Tan, Q.
01/09/2020 → 31/08/2021
Course: Teaching and supervision › Supervision
Sundhedsstyrelsens kursus i Genetisk epidemiologi og populationsgenetik Speciallægeuddannelsen i klinisk genetik for 2021
Tan, Q.
08/06/2021 → 11/06/2021
Course: Teaching and supervision › Teaching

KI, OUH, Research unit of Clinical Genetics (Odense)

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Collaborations and top research areas from the last five years

Dive into details

Katrine Saldern Aagaard

Charlotte Brasch Andersen

Caroline Hey Bækgaard

Susanne Eriksen Boonen

Mark Burton

A Case-Driven Multi-Omics Analysis for Longitudinal Ibrutinib Response Evaluation of Patients With Chronic Lymphocytic Leukemia

Advances in single-cell omics: Transformative applications in basic and clinical research

Aortic Aneurysm Risk and the Somatic JAK2 ^V617F Mutation: Insights From a Multicenter, Population-Based Cardiovascular Screening Study

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy

Opportunities and challenges in an aging society - how can aging research help?

Præsentation: Præliminære resultater af Sammenligning af HRDetect og ShallowHRD

Ugeskrift for Læger (Journal)

Age-integrated Housing and Neighbourhoods-symposium: panel of approaches

Hvor længe kan vi leve? Presentation of new scientific knowledge

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

BRCAX: Molekylær Tumorprofilering af Arvelig Brystkræft til Forbedring af Rådgivning og Behandling

Epigenetic signature of early-life exposure to the Great Chinese Famine 1959-1961

Epigenetic signature of early-life exposure to the Great Chinese Faming

Epigenetic biomarkers as indicator and predictor of late-life mortality in the elderly

Genome-wide DNA methylation analysis in monozygotic twins identifies potential biomarkers of fasting plasma glucose

Giv dit hudplejeordforråd et eftersyn – start med A for anti-age #2

Sådan mærker hospitalerne, at alderdommen har ændret sig

Synet på alderdom har ændret sig – og det kan mærkes på hospitalsgangene

Jeg blev overrasket, da professor kom med befriende budskab om farligt mavefedt: Det er nemmere, end vi tror

Han ved alt om 100-årige og tordner mod hurtige løsninger i jagten på et meget langt liv

Best PhD Poster Presentation

Syddansk Universitets Innovationspris

Syddansk Universitets Innovationspris 2023

The 44th annual Dobzhansky Award for outstanding lifetime contributions to the field of behavior genetics

The Sohlberg Nordic Prize in Gerontology

ISA: Comparison of long-read and short-read sequencing of familial breast cancer patients to verify mutational signatures

Splicing effect of BRCA1 and BRCA2 mutations in patient samples by comparison of short- and long-read RNA sequencing data

Biostatistics in R part II at BMB, SDU

Epigenome-wide association analysis of bone resorption and clinical factors (Master thesis, 60 ECTS)

Sundhedsstyrelsens kursus i Genetisk epidemiologi og populationsgenetik Speciallægeuddannelsen i klinisk genetik for 2021

KI, OUH, Research unit of Clinical Genetics (Odense)

Fingerprint

Collaborations and top research areas from the last five years

Researchers

Research output

Activities

Projects

Datasets

Press/Media

Prizes

Teaching & Supervision