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
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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Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing
Olsen, T., Ek, J., Bak, M., Grønskov, K., Bache, I., Farholt, S. & Tümer, Z., May 2025, In: Clinical Genetics. 107, 5, p. 559-563 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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ARID1B-related disorder in 87 adults: Natural history and self-sustainability
van der Sluijs, P. J., Gösgens, M., Dingemans, A. J. M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S. A., Alders, M., Alkuraya, F. S., Alorainy, I., Alsaif, H. S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B. W. & Brunet, T. & 66 others, , Jan 2024, In: Genetics in medicine open. 2, 101873.Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus) -
Placental Mosaicism for Autosomal Trisomies: Comprehensive Follow-up of 528 Danish Cases (1983-2021): Placental mosaicism for autosomal trisomies
Thomsen, D. S. H., Lund, D. I. C. B., Bache, D. I., Becher, D. N. & Vogel, D. I., Oct 2024, In: American journal of obstetrics & gynecology MFM. 6, 11, 101497.Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus) -
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
18 Citations (Scopus) -
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. (Member of study group), Bache, I. (Member of study group) & Hansen, J. F. (Member of study group), Jan 2021, In: Prenatal Diagnosis. 41, 2, p. 218-225 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus)