Research output per year
Research output per year
Personal profile
Expertises
Genetic predisposition to cancer
Current research
Genetic predisposition to childhood cancer
Familial cutaneous and uveal melanoma
Somatic mutations in uveal melanoma
Familial renal cell cancer
Familial colonic cancer
Potential conflicts of interest
None
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Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
Stoltze, U. K., Hagen, C. M., van Overeem Hansen, T., Byrjalsen, A., Gerdes, A-M., Yakimov, V., Rasmussen, S., Bækvad-Hansen, M., Hougaard, D. M., Schmiegelow, K., Hjalgrim, H., Wadt, K. & Bybjerg-Grauholm, J., 14 Mar 2023, In: Genome Medicine. 15, 1, p. 17Research output: Contribution to journal › Journal article › Research › peer-review
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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
Stoltze, U. K., Hansen, T. V. O., Brok, J. S., Grønskov, K., Tumer, A. Z., Ahlborn, L. B., Schmiegelow, K. & Wadt, K. A. W., Feb 2023, In: Journal of Medical Genetics. 60, 2, p. 128-130 3 p., 108335.Research output: Contribution to journal › Journal article › Research › peer-review
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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., 15 Mar 2023, (E-pub ahead of print) In: Lung Cancer. 179, p. 107172 107172.Research output: Contribution to journal › Review › peer-review
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RosettaDDGPrediction for high-throughput mutational scans: from stability to binding
Sora, V., Otamendi Laspiur, A., Degn, K., Arnaudi, M., Utichi, M., Beltrame, L., De Menezes, D., Orlandi, M., Stoltze, U. K., Rigina, O., Sackett, P. W., Wadt, K., Schmiegelow, K., Tiberti, M. & Papaleo, E., Jan 2023, In: Protein science : a publication of the Protein Society. 32, 1, p. e4527 e4527.Research output: Contribution to journal › Journal article › Research › peer-review
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9p21.3 microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature
Jensen, M. R., Stoltze, U., Hansen, T. V. O., Bak, M., Sehested, A., Rechnitzer, C., Mathiasen, R., Scheie, D., Larsen, K. B., Olsen, T. E., Muhic, A., Skjøth-Rasmussen, J., Rossing, M., Schmiegelow, K. & Wadt, K., Jun 2022, In: Cold Spring Harbor Molecular Case Studies. 8, 4, p. a006164 a006164.Research output: Contribution to journal › Review › peer-review