Thomas van Overeem Hansen
Clinical Professor
- Published
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Thomassen, M., Mesman, R. L. S., Hansen, T. V. O., Menendez, M., Rossing, M., Esteban-Sánchez, A., Tudini, E., Törngren, T., Parsons, M. T., Pedersen, I. S., Teo, S. H., Kruse, T. A., Møller, P., Borg, Å., Jensen, U. B., Christensen, L. L., Singer, C. F., Muhr, D., Santamarina, M., Brandao, R. & 30 others, , 2022, In: Human Mutation. 43, 12, p. 1921-1944Research output: Contribution to journal › Journal article › Research › peer-review
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Genetic predisposition & evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors
Stoltze, U. K., Foss-Skiftesvik, J., Hansen, Thomas van Overeem, Byrjalsen, A., Sehested, A., Scheie, David, Mikkelsen, T. S., Rasmussen, Simon, Bak, M., Okkels, H., Callesen, M. T., Skjøth-Rasmussen, J., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld, Mathiasen, R. & Wadt, Karin Anna Wallentin, 2023, In: Neuro-Oncology. 25, 4, p. 761-773Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The evolutionary impact of childhood cancer on the human gene pool
Stoltze, U. K., Foss-Skiftesvik, J., Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, K. J., Wadt, Karin Anna Wallentin & Schmiegelow, Kjeld, 2024, In: Nature Communications. 15, 15 p., 1881.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
Stoltze, U. K., Hildonen, M., Hansen, Thomas van Overeem, Foss-Skiftesvik, J., Byrjalsen, A., Lundsgaard, M., Pignata, L., Grønskov, K., Tümer, Asuman Zeynep, Schmiegelow, Kjeld, Brok, J. S. & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 9, p. 842-849Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
Stoltze, U. K., Hansen, Thomas van Overeem, Brok, J. S., Gronskov, K., Tümer, Asuman Zeynep, Ahlborn, L. B., Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
Stoltze, U. K., Hagen, C. M., Hansen, Thomas van Overeem, Byrjalsen, A., Gerdes, Anne-Marie Axø, Yakimov, V., Rasmussen, Simon, Bækvad-Hansen, M., Hougaard, D. M., Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin Anna Wallentin & Bybjerg-Grauholm, J., 2023, In: Genome Medicine. 15, 12 p., 17.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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., Japan, B., Blok, M. J., Boddicker, N., Brunet, J., Burnside, E. S., Calvello, M., Campbell, I. & 92 others, , 2023, In: Clinical Cancer Research. 29, 16, p. 3037-3050 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations
Steffensen, A. Y., Jønson, L., Ejlertsen, B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, Thomas van Overeem, 1 Sep 2010, In: Familial Cancer. 9, 3, p. 283-7 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel, I. H. C. C. V. C. E. P., 2024, In: Genetics in Medicine. 26, 2, 21 p., 100992.Research output: Contribution to journal › Journal article › Research › peer-review
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Ancient human genome sequence of an extinct Palaeo-Eskimo
Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., Bertalan, M., Nielsen, K., Gilbert, T., Wang, Y., Raghavan, M., Campos, P., Kamp, H. L. M., Wilson, A. S., Gledhill, A., Tridico, S. & 32 others, , 11 Feb 2010, In: Nature. 463, 7282, p. 757-762 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33972371
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IMP3 RNP safe houses prevent miRNA-directed HMGA2 mRNA decay in cancer and development
Research output: Contribution to journal › Journal article › Research › peer-review
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32
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Ancient human genome sequence of an extinct Palaeo-Eskimo
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
30
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Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
Research output: Contribution to journal › Journal article › Research › peer-review
Published