Research output per year
Research output per year
Personal profile
Expertises
- Molecular genetic diagnostic technologies
- Human molecular and medical genetics
- Genetic basis of neuromuscular disorders
- Mitochondrial genetics
- Non-invasive prenatal testing
- Preimplantation genetic diagnostics
- Quality assurance of laboratory genetics.
Main research areas
Molecular basis of genetic disorders. Variant classification.
Current research
Novel methods for preimplantation genetic diagnostics
Potential conflicts of interest
None
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Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study
Schlaikjær Hartwig, T., Ambye, L., Gruhn, J. R., Petersen, J. F., Wrønding, T., Amato, L., Chi-Ho Chan, A., Ji, B., Bro-Jørgensen, M. H., Werge, L., Petersen, M. M. B. S., Brinkmann, C., Petersen, J. B., Dunø, M., Bache, I., Herrgård, M. J., Jørgensen, F. S., Hoffmann, E. R., Nielsen, H. S., COPL consortium, & 2 others, 4 Mar 2023, In: Lancet. 401, 10378, p. 762-771 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Cerebellar ataksi-neuropati-vestibulær arefleksi-syndrom
Translated title of the contribution :Cerebellar ataxia-neuropathy-vestibular areflexia-syndrome Research output: Contribution to journal › Review › peer-review
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DNA methylation signature classification of rare disorders using publicly available methylation data
Hildonen, M., Ferilli, M., Hjortshøj, T. D., Dunø, M., Risom, L., Bak, M., Ek, J., Møller, R. S., Ciolfi, A., Tartaglia, M. & Tümer, Z., Jun 2023, In: Clinical Genetics. 103, 6, p. 688-692 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study
Berglund, A., Ornstrup, M. J., Lind-Holst, M., Dunø, M., Bækvad-Hansen, M., Juul, A., Borch, L., Jørgensen, N., Rasmussen, Å. K., Andersen, M., Main, K. M., Hansen, D. & Gravholt, C. H., May 2023, In: The Lancet regional health. Europe. 28, p. 100598 100598.Research output: Contribution to journal › Journal article › Research › peer-review
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Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders
Pedersen, J. J., Stemmerik, M. G., Jacobsen, L. N., Skriver, S. V., Wilms, G. R., Duno, M. & Vissing, J., 2023, In: Scientific Reports. 13, 1, p. 1-11 11 p., 2538.Research output: Contribution to journal › Journal article › Research › peer-review