Personlig profil
CV
- Education:
1980 High School, Odense Katadralskole, Mat. Biol. branch.
1981: Immatriculated at Odense University, natural sciences.
1990: Cand. Scient. degree, Experimental cell biology, molecular biology.
1999: Ph. D. from Aarhus University; “A preliminary genomic map of the American mink (Mustela vison)
2019: Clinical Laboratory Geneticist, European Board of Medical Genetics.
II Positions:
1990: Research assistant, Department of Pharmacology, IMB., Odense University.
1991: Military service.
1991: Research assistant, Department of Medical Microbiology, IMB, Odense University.
1992: Research scientist, Department of Animal Physiology and biochemistry, Danish Institute of Animal Science.
1996: Research scientist, Department of Breeding and Genetics, Danish Institute of Animal Science.
1997: Research scientist, Department of Biochemistry, Pharmacology and Genetics, OUH, Odense.
2006-: Founder of Amplexa Genetics A/S
2010-: Senior researcher, Department of Clinical Genetics, Odense University Hospital, Odense.
2011-: Associate professor, Institute of Health, University of Southern Denmark
2017-: Visiting Professor, Near East University, Faculty of Medicine, Department of Medical Genetics, Nicosia, Cyprus
Supervision function
Supervisor on 19 PhD projects, 40 science thesis projects, bachelor projects or other projects.
Editor and Review positions
Editor on PlosOne (more than 100 manuscripts) and Advances in Endocrinology, ContROL– Genetics
Review for PlosOne, Lipidology, European Journal of Endocrinology, SciTechnol, BioMed Central, Clinical Biochemistry, Frontiers in Genetics, Clinical Biochemistry, Frontiers in Genetics, SciTecTool.
Member of the National Genom Center Advisory board on Endocrinology, EndoGenNet.
Member of the National Genom Center Advisory board on interpretation.
CRN Genetics Workstream and CRN Council, the CHI Collaborative Research Network (CRN).
Research councils
The Norwegian Research Council
The French Research Council
Membership of organisations
Since 2019 member of Illumina sequencing expert panel.
Nordic Alliance for Clinical Genomics (NACG)
Danish Sociaty of Clinical Academics (DSKA)
Danish Sociaty of Clinical Genetecist (DSMG)
Odense Pancreas Center (OPAC)
Fingeraftryk
- 1 Lignende profiler
Samarbejde og topforskningsområder i de sidste fem år
Publikationer
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Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans
Bonardi, C. M., Møller, R. S., Ruiz-Reig, N., Chai, G., Madsen, C. G., Bayat, A., Hammer, T. B., Fenger, C. D., Gardella, E., Gawlinski, P., Dawidziuk, M., Wiszniewski, W., Bekiesinska-Figatowska, M., Cabet, S., Rossi, M., Lesca, G., Gouy, E., Jepsen, B., Mieszczanek, T. S. & Sanchez Russo, R. & 8 flere, , 13. jan. 2026, I: Nature Communications. 17, 1, 862.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia
Darre Haahr, P., Hao, Q., Brusgaard, K., Larsen, M. J., Lange, B., Fialla, A. D., Kofoed, M. S., Kjeldsen, J., Schultz, N. A., Kjeldsen, A. D. & Tørring, P. M., feb. 2026, I: European Journal of Human Genetics. 34, 2, s. 236-242Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › 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 flere, , 3. jul. 2025, I: American Journal of Human Genetics. 112, 7, s. 1681-1698Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma
Gram, S. B., Brusgaard, K., Lei, U., Sommerlund, M., Vinding, G. R., Sleire, S. O. K., Christensen, A. H., Fast, S. P., Bach, R., Bygum, A. & Ousager, L. B., 1. feb. 2025, I: JAMA Dermatology. 161, 2, s. 157-166Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger
Granhøj, J., Aagaard, M. M., Pedersen, K. V., Lildballe, D. L., Ørskov, B., Tougaard, B. G., Pausgaard, R. H., Brusgaard, K., Svenningsen, P., Birn, H. & Rasmussen, M., nov. 2025, I: Kidney International Reports. 10, 11, s. 3984-3997Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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Aktiviteter
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NGS 2016 Nordic
Brusgaard, K. (Arrangør)
8. nov. 2016 → 9. nov. 2016Aktivitet: Deltagelse i faglig begivenhed › Organisering af eller deltagelse i konference
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NGS 2015 Nordic
Brusgaard, K. (Arrangør)
27. okt. 2015 → 28. okt. 2015Aktivitet: Deltagelse i faglig begivenhed › Organisering af eller deltagelse i konference
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Neonatal high none mass with heterozygous ”de novo” missense mutation i RELA/(RelA/p65)
Frederiksen, A. L. (Underviser), Larsen, M. J. (Underviser), Brusgaard, K. (Underviser), Novack, D. (Underviser), Knudsen, P. J. T. (Underviser), Schrøder, H. D. (Underviser), Eckhardt, C. (Underviser), McAlister, W. H. (Underviser), Kassem, M. (Underviser), Frost, M. (Underviser) & Whyte, M. P. (Underviser)
26. apr. 2015Aktivitet: Foredrag og mundtlige bidrag › Konferenceoplæg
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Histological features of the pancreas in a patient with congenital hyperinsulinism due to Beckwith-Wiedemann syndrome
Christensen, L. (Underviser), Thybo Christesen, H. (Underviser), Brusgaard, K. (Underviser), Petersen, H. (Underviser), Rasmussen, L. (Underviser) & Hovendal, C. (Underviser)
13. mar. 2015Aktivitet: Foredrag og mundtlige bidrag › Konferenceoplæg
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SciTechnol (Tidsskrift)
Brusgaard, K. (Peer reviewer)
26. nov. 2014Aktivitet: Redaktionelt arbejde og fagfællebedømmelse › Peer reviewer/fagfællebedømmer af manuskripter › Forskning
Projekter
- 1 Afsluttet
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RHINOLOGY and VASCULAR MALFORMATIONS: Genotyping and Gene Expression Profiling in Hereditary Haemorrhagic Telangiectasia
Tørring, P. M. (Ph.d.-studerende), Brusgaard, K. (Bivejleder), Ousager, L. B. (Bivejleder), Tan, Q. (Bivejleder) & Kjeldsen, A. D. (Vejleder)
01/06/2010 → 29/08/2014
Projekter: Projekt › Ph.d-projekt