Research output per year
Research output per year
Personal profile
Expertises
Aortopathies, Marfan syndrom, genetic counseling.
Main research areas
Molecular characterization of the genetic etiology of aortopathies and related disorders. Ethical, legal, social implications of genetic counseling.
Current research
Molecular genetic characterization of a cohort with clinical suspicion of Marfan syndrome.
Phenotypic description and subclassification of vEDS patients.
Population use and attitudes to direct-to-consumer genetics.
Potential conflicts of interest
None
Research and teaching information
Associate clinical professor at Copenhagen University, Department of Clinical Medicine
Education and academic degrees
MD, PhD
Fingerprint
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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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Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures
Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, B. R., Sep 2022, In: Clinical Genetics. 102, 3, p. 191-200 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
Schönewolf-Greulich, B., Karstensen, H. G., Hjortshøj, T. D., Jørgensen, F. S., Harder, K. M., Frevert, S., Hove, H. & Diness, B. R., Oct 2022, In: European Journal of Medical Genetics. 65, 10, 104590.Research output: Contribution to journal › Journal article › Research › peer-review
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Hjertesygdomme
Translated title of the contribution :Heart diseases Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Communication
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Det danske screeningsprogram for hæmoglobinopatier
Translated title of the contribution :The Danish screening programme for haemoglobinopathies: Det danske screeningsprogram for hæmoglobinopatier Research output: Contribution to journal › Review › peer-review
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Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes
Gerdes, A-M., Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, B. R., May 2021, In: European journal of human genetics : EJHG. 29, 5, p. 851-860Research output: Contribution to journal › Journal article › Research › peer-review
7 Citations (Scopus)