Research output per year
Research output per year
Personal profile
Profile
As a postdoc, I conduct research in functional genetics. In my work, I am particularly interested in genetic diseases where I apply genome pertubation tools to study the effects of rare variants on transcriptional regulation and splicing. I have a background in medicine with a PhD degree in clinical genetics. My current roles include specialty training in clinical genetics and research.
Job responsibilities
My primary area of responsibility is research. I also contribute to teaching in the BSc and MSc in Medicine and to the supervision of students, including research year students.
Fingerprint
Dive into the research topics where Thorkild Terkelsen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
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
-
CRISPR activation to characterize splice-altering variants in easily accessible cells
Terkelsen, T., Mikkelsen, N. S., Bak, E. N., Vad-Nielsen, J., Blechingberg, J., Weiss, S., Drue, S. O., Andersen, H., Andresen, B. S., Bak, R. O. & Jensen, U. B., 1 Feb 2024, In: American Journal of Human Genetics. 111, 2, p. 309-322 14 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access7 Citations (Scopus) -
Characterization of the role of spatial proximity of DNA double-strand breaks in the formation of CRISPR-Cas9-induced large structural variations
Dahl-Jessen, M., Terkelsen, T., Bak, R. O. & Jensen, U. B., 2025, In: Genome Research. 35, 2, p. 231-241 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
-
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
Møller, N. B., Boonen, D. S., Feldner, E. S., Hao, Q., Larsen, M., Lænkholm, A. V., Borg, Å., Kvist, A., Törngren, T., Jensen, U. B., Boonen, S. E., Thomassen, M. & Terkelsen, T., Dec 2023, In: Scientific Reports. 13, 1, 11 p., 8536.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access2 Citations (Scopus) -
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions
Terkelsen, T., Brasch-Andersen, C., Illum, N., Busa, T., Missirian, C., Chandler, K., Holden, S. T., Jensen, U. B. & Fagerberg, C. R., Feb 2022, In: Clinical Genetics. 101, 2, p. 208-213 6 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile2 Citations (Scopus)105 Downloads (Pure) -
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect
Gregersen, P. A., Hammarsjö, A., Graversen, L., Brix, N., Lindelöf, H., Jensen, U. B., Farholt, S., Rubak, S., Bjerre, J., Piticchio, S. G., Terkelsen, T., Nishimura, G., Hellfritzsch, M. B. & Grigelioniene, G., Jan 2025, In: Clinical Genetics. 107, 1, p. 78-82 5 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access