Karin Anna Wallentin Wadt
Clinical Associate Professor
- 2020
- Published
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
Djursby, M., Wadt, Karin Anna Wallentin, Frederiksen, J. H., Madsen, M. B., Berchtold, L. A., Hasselby, Jane Preuss, Willemoe, G. L., Hansen, T. V. O. & Gerdes, Anne-Marie Axø, 2020, In: Hereditary Cancer in Clinical Practice. 18, 1, 8.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
Bache, Iben, Wadt, Karin Anna Wallentin, Mehrjouy, M. M., Rossing, M., Østrup, O., Byrjalsen, A., Tommerup, Niels, Metzner, M., Vyas, P., Schmiegelow, Kjeld, Lausen, B. & Andersen, M. K., 2020, In: Blood Cancer Journal. 10, 3, 4 p., 27.Research output: Contribution to journal › Letter › Research › peer-review
- Published
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., ten Broeke, S. W., Plazzer, J. P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H. & 68 others, , 2020, In: Genetics in Medicine. 22, 1, p. 15-25 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes
Byrjalsen, A., Hansen, T. V. O., Stoltze, U. K., Mehrjouy, M. M., Barnkob, N. M., Hjalgrim, L. L., Mathiasen, R., Lautrup, C. K., Gregersen, P. A., Hasle, H., Wehner, P. S., Tuckuviene, R., Sackett, P. W., Laspiur, A. O., Rossing, M., Marvig, R. L., Tommerup, N., Olsen, T. E., Scheie, D., Gupta, R. & 3 others, , 2020, In: PLOS Genetics. 16, 12, e1009231.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients
Djursby, M., Madsen, M. B., Frederiksen, J. H., Berchtold, L. A., Therkildsen, C., Willemoe, G. L., Hasselby, Jane Preuss, Wikman, F., Okkels, H., Skytte, A. B., Nilbert, Mef Christina, Wadt, Karin Anna Wallentin, Gerdes, Anne-Marie Axø & van Overeem Hansen, T., 2020, In: Frontiers in Genetics. 11, 566266.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The molecular profile of mucosal melanoma
Mikkelsen, Lauge Hjorth, Maag, E., Andersen, M. K., Kruhøffer, M., Larsen, A. C., Melchior, L. C., Toft, Peter Bjerre, von Buchwald, Christian, Wadt, Karin Anna Wallentin & Heegaard, Steffen, 2020, In: Melanoma Research. 30, 6, p. 533-542 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients
Mathiesen, J. S., Nielsen, S. G., Rasmussen, Å. K., Kiss, K., Wadt, Karin Anna Wallentin, Hermann, A. P., Nielsen, M. F., Larsen, S. R., Brusgaard, K., Frederiksen, A. L., Godballe, C. & Rossing, M., 2020, In: Frontiers in Endocrinology. 11, 251.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours
Johansson, P. A., Brooks, K., Newell, F., Palmer, J. M., Wilmott, J. S., Pritchard, A. L., Broit, N., Wood, S., Carlino, M. S., Leonard, C., Koufariotis, L. T., Nathan, V., Beasley, A. B., Howlie, M., Dawson, R., Rizos, H., Schmidt, C. W., Long, G. V., Hamilton, H., Kiilgaard, J. F. & 15 others, , 2020, In: Nature Communications. 11, 8 p., 2408.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 212547613
Most downloads
-
87
downloads
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
79
downloads
A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
64
downloads
Exploring the hereditary background of renal cancer in Denmark
Research output: Contribution to journal › Journal article › Research › peer-review
Published