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Dive into the research topics where Ulf Birkedal is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic
Walpole, S., Santiago-Vela, M. I., Birkedal, U., Hong, Z., Ros, X.B.-D., van Overeem Hansen, T. & Wadt, K. A. W., May 2026, In: Clinical Genetics. 109, 5, p. 931-936 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis
Jelsig, A. M., Boelman, M. B., Birkedal, U., Hübertz, J., Al-Zehawi, L., Lautrup, C., Karstensen, J. G. & van Overeem Hansen, T., Jan 2026, In: Journal of Cancer Research and Clinical Oncology. 152, 1, 3.Research output: Contribution to journal › Comment/debate › Research › peer-review
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A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps
Johannesen, K. M., Karstensen, J. G., Rasmussen, A. Ø., Scott, E. A. H., Birkedal, U., Hansen, T. V. O., Steenholdt, C. & Jelsig, A. M., Apr 2025, In: Clinical Genetics. 107, 4, p. 480-482 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
3 Citations (Scopus) -
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome
Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, T. V. O., Birkedal, U., Østergaard, E. & Hove, H. B., 2024, In: American Journal of Medical Genetics. Part A. 194, 8, e63581.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus) -
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data
Frederiksen, J. H., Birkedal, U., Bachmann, S., Eliesen, E. V., Rasmussen, L. J., Pedersen, K. V., Al-Zehhawi, L., Boonen, S. E., Krogh, L., Rønlund, K., Graversen, L., Assenholt, J., Schmiegelow, K., Wadt, K., Gerdes, A.-M. & Hansen, T. V. O., Nov 2024, In: Molecular Genetics & Genomic Medicine. 12, 11, e70026.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus)