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
External positions
University of Copenhagen
2005 → …
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Collaborations and top research areas from the last five years
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Diagnostic yield of whole exome sequencing in a cohort of 825 patients
Andersen, P. F., Ek, J., Karstensen, H. G., Bak, M., Grønborg, S., Hove, H. B., Diness, B., Hjortshøj, T. D., Hammer, T. B., Høi-Hansen, C., Greulich, B. S., Bisgaard, A.-M., Duno, M. & Østergaard, E., Dec 2025, In: European Journal of Medical Genetics. 78, p. 105043 105043.Research output: Contribution to journal › Journal article › Research › peer-review
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Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
Hammer-Hansen, S., Stoltze, U., Bartels, E., Hansen, T. V. O., Byrjalsen, A., Tybjærg-Hansen, A., Juul, K., Schmiegelow, K., Tfelt, J., Bundgaard, H., Wadt, K. & Diness, B. R., Jul 2024, In: European journal of human genetics : EJHG. 32, 7, p. 846-857 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK
Boelman, M. B., Hansen, T. V. O., Smith, M. N., Hammer-Hansen, S., Christensen, A. H. & Diness, B. R., 2024, In: American Journal of Medical Genetics. Part A. 194, 3, e63458.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus) -
Novel germline TP53 variant (p.(Phe109Ile)) confer high risk of cancer
Byrjalsen, A., Stoltze, U. K., Lautrup, C., Christensen, L. L., Mikkelsen, T., Hjalgrim, L., Brok, J. S., Dahl, C., Schmiegelow, K., Borgwardt, L., Diness, B. R., Hansen, T. V. O. & Wadt, K. A. W., 23 Oct 2024, In: Journal of Medical Genetics. 61, 11, p. 1023-1025 3 p., jmg-2024-110255.Research output: Contribution to journal › Journal article › Research › peer-review
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Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease
Lildballe, D. L., Markholt, S., Lyngholm, C. D., Hao, Q., Fagerberg, C., Nielsen, D. G., Svensmark, J. H., Diness, B. R. & Gregersen, P. A., Nov 2024, In: American Journal of Medical Genetics. Part A. 194, 11, e63795.Research output: Contribution to journal › Journal article › Research › peer-review