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Rigshospitalet - a part of Copenhagen University Hospital
  1. 2022
  2. Published
  3. 2021
  4. Published
  5. Published
  6. 2020
  7. Published
  8. Published

    The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

    Brieghel, C., da Cunha-Bang, C., Yde, C. W., Schmidt, A. Y., Kinalis, S., Nadeu, F., Andersen, M. A., Jacobsen, L. O., Andersen, M. K., Pedersen, L. B., Delgado, J., Baumann, T., Mattsson, M., Mansouri, L., Rosenquist, R., Campo, E., Nielsen, F. C. & Niemann, C. U., 15 Mar 2020, In: Clinical Cancer Research. 26, 6, p. 1507-1515 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2019
  10. Published
  11. Published
  12. 2018
  13. Published
  14. Published
  15. Published

    The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

    kConFab/AOCS Investigators, May 2018, In: Human Mutation. 39, 5, p. 729-741 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    A Danish national effort of BRCA1/2 variant classification

    Pedersen, I. S., Schmidt, A. Y., Bertelsen, B., Ernst, A., Andersen, C. L. T., Kruse, T., Rossing, M. & Thomassen, M., 18 Jan 2018, In: Acta oncologica . p. 159-162 4 p., 57.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published
  18. Published

    Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

    Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Couch, F. J., Goldgar, D. E., Kruse, T. A., Palmero, E. I., Park, S. K., Torres, D., van Rensburg, E. J., McGuffog, L., Parsons, M. T., Leslie, G., Aalfs, C. M., Abugattas, J., Adlard, J., Agata, S., Aittomäki, K., Andrews, L., Andrulis, I. L., Arason, A., Arnold, N., Arun, B. K., Asseryanis, E., Auerbach, L., Azzollini, J., Balmaña, J., Barile, M., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berger, A., Berger, R., Blanco, A. M., Blazer, K. R., Blok, M. J., Ejlertsen, B., Gerdes, A-M., Nielsen, F. C., Schmidt, A. Y. & EMBRACE, 2018, In: Human Mutation. 39, 5, p. 593-620

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2017
  20. Published
  21. Published
  22. 2016
  23. Published
  24. 2015
  25. Published

    Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

    Ahlborn, L. B., Dandanell, M., Steffensen, A. Y., Jønson, L., Nielsen, F. C. & Hansen, T. V. O., Apr 2015, In: Breast Cancer Research and Treatment. 150, 2, p. 289-98 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. Published

    Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

    Ahlborn, L. B., Steffensen, A. Y., Jønson, L., Djursby, M., Nielsen, F. C., Gerdes, A-M. & Hansen, T. V. O., 2015, In: Familial Cancer. 14, 1, p. 129-133

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. 2014
  28. Published
  29. Published
  30. 2012
  31. Published

    Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

    Thomassen, M., Blanco, A., Montagna, M., Hansen, T. V. O., Pedersen, I. S., Gutiérrez-Enríquez, S., Menéndez, M., Fachal, L., Santamariña, M., Steffensen, A. Y., Jønson, L., Agata, S., Whiley, P., Tognazzo, S., Tornero, E., Jensen, U. B., Balmaña, J., Kruse, T. A., Goldgar, D. E., Lázaro, C., Diez, O., Spurdle, A. B. & Vega, A., 2012, In: Breast Cancer Research and Treatment. 132, 3, p. 1009-23 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. 2011
  33. Published
  34. 2010
  35. Published
  36. Published

    Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

    Steffensen, A. Y., Jønson, L., Ejlertsen, B., Gerdes, A-M., Nielsen, F. C. & Hansen, T. V. O., 1 Sep 2010, In: Familial Cancer. 9, 3, p. 283-7 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

ID: 30785471