Personlig profil
Expertise
Chromosomal abnormalities; cytogenetics; cytogenomics; pre- and postnatal diagnostics; genomic disorders; copy number variations; array-CGH; MLPA; FISH; PGD.
Primære forskningsområder
Chromosomal abnormalities
Aktuel forskning
Chromosomal imbalances detected in patients with intellectual disability, congenital malformations and dysmorphic features and fetuses with malformations are often unique or very rare. Thus, the clinical significance of the findings may remain uncertain, which complicates genetic counselling. We collaborate with Clinical Genetic Departments worldwide via DECIPHER in order to delineate new microdeletion and -duplication syndromes.
Chromosomal rearrangements can cause long-range position effects by deleting or displacing regulatory elements. In collaboration with the Wilhelm Johannsen Centre, University of Copenhagen, we map both balanced and unbalanced chromosomal rearrangements to identify regulatory genomic domains and elements for known and novel disease genes. Furthermore, a number of molecular cytogenetic projects are carried out to increase knowledge relevant for genetic counselling of families with e.g. inversions and insertions.
Mulige interessekonflikter
None
Fingeraftryk
- 1 Lignende profiler
-
Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia
Bayat, A., Dunø, M., Kirchhoff, M., Jørgensen, F. S., Nishimura, G. & Hove, H. B., jun. 2020, I: Molecular Syndromology. 11, 2, s. 83-89 7 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
4 Citationer (Scopus) -
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
Basilicata, M. F., Bruel, A.-L., Semplicio, G., Valsecchi, C. I. K., Aktaş, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W. G., Gilissen, C., Vanakker, O., Õunap, K., Mittler, G., van der Burgt, I., El Chehadeh, S., Cho, M. T., Pfundt, R., Tan, T. Y. & Kirchhoff, M. & 21 flere, , okt. 2018, I: Nature Genetics. 50, 10, s. 1442-1451 10 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
34 Citationer (Scopus) -
Development of large-scale manufacturing of adipose-derived stromal cells for clinical applications using bioreactors and human platelet lysate
Haack-Sørensen, M., Juhl, M., Follin, B., Harary Søndergaard, R., Kirchhoff, M., Kastrup, J. & Ekblond, A., jul. 2018, I: Scandinavian Journal of Clinical and Laboratory Investigation. 78, 4, s. 293-300 8 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
51 Citationer (Scopus) -
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
Halgren, C., Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Y., El-Schich, Z., Boring, C. A., Mehrjouy, M. M., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J. & Bryndorf, T. & 5 flere, , 7 jun. 2018, I: American Journal of Human Genetics. 102, 6, s. 1090-1103 14 s.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
40 Citationer (Scopus) -
Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene
Bayat, A., Kirchhoff, M., Madsen, C. G., Roos, L. & Kreiborg, S., 1 jun. 2017, I: Clinical Dysmorphology. 26, 3, s. 148-153Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
15 Citationer (Scopus)