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Dive into the research topics where Birgitte Bertelsen 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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Whole genome sequencing in clinical practice
Bagger, F. O., Borgwardt, L., Jespersen, A. S., Hansen, A. R., Bertelsen, B., Kodama, M. & Nielsen, F. C., 29 Jan 2024, In: BMC Medical Genomics. 17, 1, 16 p., 39.Research output: Contribution to journal › Review › peer-review
114 Citations (Scopus) -
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Stolarova, L., Kleiblova, P., Zemankova, P., Stastna, B., Janatova, M., Soukupova, J., Achatz, M. I., Ambrosone, C., Apostolou, P., Arun, B. K., Auer, P., Barnard, M., Bertelsen, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I. & Chan, S. H. & 31 others, , 15 Aug 2023, In: Clinical Cancer Research. 29, 16, p. 3037-3050 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
27 Citations (Scopus) -
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
Jelsig, A. M., Kjeldsen, A., Christensen, L. L., Bertelsen, B., Karstensen, J. G., Brusgaard, K. & Torring, P. M., May 2023, In: Journal of Medical Genetics. 60, 5, p. 464-468 5 p., 108766.Research output: Contribution to journal › Journal article › Research › peer-review
8 Citations (Scopus) -
New pathogenic germline variants identified in mesothelioma
Belcaid, L., Bertelsen, B., Wadt, K., Tuxen, I., Spanggaard, I., Højgaard, M., Benn Sørensen, J., Ravn, J., Lassen, U., Cilius Nielsen, F., Rohrberg, K. & Westmose Yde, C., 2023, In: Lung Cancer. 179, p. 1-8 8 p., 107172.Research output: Contribution to journal › Review › peer-review
9 Citations (Scopus) -
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study
Jelsig, A. M., van Overeem Hansen, T., Gede, L. B., Qvist, N., Christensen, L.-L., Lautrup, C. K., Frederiksen, J. H., Sunde, L., Ousager, L. B., Ljungmann, K., Bertelsen, B. & Karstensen, J. G., Jul 2023, In: Clinical Genetics. 104, 1, p. 81-89 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
14 Citations (Scopus)