Research output per year
Research output per year
Personal profile
Main research areas
To study germline chromosomal rearrangements to identify disease genes and mechanisms
Expertises
Constitutional chromosomal abnormalities; cytogenomics and classical cytogenetics; genomic disorders
Karyotyping; FISH; Non-Invasive Prenatal Test (NIPT)
Research areas
Currently we are mapping germline chromosomal rearrangements in patients with later-onset/diagnosed diseases e.g. reproductive difficulties, obesity, hypertension and cancer.
Potential conflicts of interest
None
Research and teaching information
Visiting researcher at Department of Cellular and Molecular Medicine, University of Copenhagen
Education and academic degrees
MD, PhD
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Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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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Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18
Steffensen, E. H., Hyett, J., Petersen, O. B., Vogel, I., Danish Cytogenetic Central Registry Study Group, Fagerberg, C., Bache, I. & Hansen, J. F., Jan 2021, In: Prenatal Diagnosis. 41, 2, p. 218-225 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review
Thomsen, S. H., Lund, I. C. B., Fagerberg, C., Bache, I., Becher, N. & Vogel, I., Mar 2021, In: Prenatal Diagnosis. 41, 4, p. 409-421 13 p.Research output: Contribution to journal › Review › peer-review
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A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
Bache, I., Wadt, K., Mehrjouy, M. M., Rossing, M., Østrup, O., Byrjalsen, A., Tommerup, N., Metzner, M., Vyas, P., Schmiegelow, K., Lausen, B. & Andersen, M. K., 3 Mar 2020, In: Blood Cancer Journal. 10, 3, p. 27Research output: Contribution to journal › Letter › peer-review
3 Citations (Scopus) -
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Döring, J. H., Saffari, A., Bast, T., Brockmann, K., Ehrhardt, L., Fazeli, W., Janzarik, W. G., Kluger, G., Muhle, H., Møller, R. S., Platzer, K., Santos, J. L., Bache, I., Bertsche, A., Bonfert, M., Borggräfe, I., Broser, P. J., Datta, A. N., Hammer, T. B., Hartmann, H., & 19 others, 28 Oct 2020, In: Biomedicines. 8, 11, p. 456Research output: Contribution to journal › Journal article › Research › peer-review
18 Citations (Scopus)