19982019

Research output per year

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Research Output

  • 42 Article
  • 1 Comment/Letter to the editor
  • 1 Review article
  • 1 Doctoral Thesis

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Deprez, R. H. L., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T. & 3 others, Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec 2019, In : Human Mutation. 40, 12, p. 2230-2238 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity

de Jonge, M. M., Ritterhouse, L. L., de Kroon, C. D., Vreeswijk, M. P. G., Segal, J. P., Puranik, R., Rookus, M. A., Hogervorst, F. B. L., van Leeuwen, F. E., Adank, M. A., Schmidt, M. K., Jenner, D. J., Collee, J. M., van den Ouweland, A. M. W., Hooning, M. J., Boere, I. A., van Asperen, C. J., Devilee, P., van der Luijt, R. B., van Cronenburg, T. C. T. E. F. & 23 others, Wevers, M. R., Mensenkamp, A. R., Ausems, M. G. E. M., Koudijs, M. J., Meijers-Heijboer, H. E. J., van Os, T. A. M., van Engelen, K., Gille, J. J. P., Gomez-Garcia, E. B., Blok, M. J., de Boer, M., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., de Bock, G. H., Siesling, S., Verloop, J., van den Broek, E. C., Hollema, H., Smit, V. T. H. B. M., Howitt, B. E., Bosse, T. & HEBON Grp, 15 Dec 2019, In : Clinical Cancer Research. 25, 24, p. 7517-7526 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers

Heemskerk-Gerritsen, B. A. M., Jager, A., Koppert, L. B., Obdeijn, A. I-M., Collee, M., Meijers-Heijboer, H. E. J., Jenner, D. J., Oldenburg, H. S. A., van Engelen, K., de Vries, J., van Asperen, C. J., Devilee, P., Blok, M. J., Kets, C. M., Ausems, M. G. E. M., Seynaeve, C., Rookus, M. A. & Hooning, M. J., Oct 2019, In : Breast Cancer Research and Treatment. 177, 3, p. 723-733 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Brandao, R. D., Mensaert, K., Lopez-Perolio, I., Tserpelis, D., Xenakis, M., Lattimore, V., Walker, L. C., Kvist, A., Vega, A., Gutierrez-Enriquez, S., Diez, O., de la Hoya, M., Spurdle, A. B., De Meyer, T., Blok, M. J. & KConFab Investigators, 15 Jul 2019, In : International Journal of Cancer. 145, 2, p. 401-414 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

Bakhuizen, J. J., Hogervorst, F. B., Velthuizen, M. E., Ruijs, M. W., van Engelen, K., van Os, T. A., Gille, J. J., Collee, M., van den Ouweland, A. M., van Asperen, C. J., Kets, C. M., Mensenkamp, A. R., Leter, E. M., Blok, M. J., de Jong, M. M. & Ausems, M. G., Apr 2019, In : Familial Cancer. 18, 2, p. 273-280 8 p.

Research output: Contribution to journalArticleAcademicpeer-review