drs. Y.J. Vos

E-mail:
y.j.vos umcg.nl

Research

Publications
  1. Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

    Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., Vos, Y. J., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M. A., Sinke, R., Sikkema-Raddatz, B., Kerstjens-Frederikse, W. S., Swertz, M. A. & Franke, L., 28-Jun-2019, In : Nature Communications. 10, 1, 13 p., 2837.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Cancer Risks for PMS2-Associated Lynch Syndrome

    ten Broeke, S. W., van der Klift, H. M., Tops, C. M. J., Aretz, S., Bernstein, I., Buchanan, D. D., de la Chapelle, A., Capella, G., Clendenning, M., Engel, C., Gallinger, S., Gomez Garcia, E., Figueiredo, J. C., Haile, R., Hampel, H. L., Hopper, J. L., Hoogerbrugge, N., Doeberitz, M. V. K., Le Marchand, L., Letteboer, T. G. W., Jenkins, M. A., Lindblom, A., Lindor, N. M., Mensenkamp, A. R., Moller, P., Newcomb, P. A., van Os, T. A. M., Pearlman, R., Pineda, M., Rahner, N., Redeker, E. J. W., Olderode-Berends, M. J. W., Rosty, C., Schackert, H. K., Scott, R., Senter, L., Spruijt, L., Steinke-Lange, V., Suerink, M., Thibodeau, S., Vos, Y. J., Wagner, A., Winship, I., Hes, F. J., Vasen, H. F. A., Wijnen, J. T., Nielsen, M. & Win, A. K., 10-Oct-2018, In : Journal of Clinical Oncology. 36, 29, p. 2961-2968 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. SNP association study in PMS2-associated Lynch syndrome

    ten Broeke, S. W., Elsayed, F. A., Pagan, L., Olderode-Berends, M. J. W., Garcia, E. G., Gille, H. J. P., van Hest, L. P., Letteboer, T. G. W., van der Kolk, L. E., Mensenkamp, A. R., van Os, T. A., Spruijt, L., Redeker, B. J. W., Suerink, M., Vos, Y. J., Wagner, A., Wijnen, J. T., Steyerberg, E. W., Tops, C. M. J., van Wezel, T. & Nielsen, M., Oct-2018, In : Familial Cancer. 17, 4, p. 507-515 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. GRIN2A-related disorders: genotype and functional consequence predict phenotype

    GRIN2A Study Grp, Strehlow, V., Heyne, H. O., Vlaskamp, D. R. M., Marwick, K. F. M., Rudolf, G., De Bellescize, J., Biskup, S., Brilstra, E. H., Brouwer, O. F., Callenbach, P. M. C., Hentschel, J., Hirsch, E., Kind, P. C., Mignot, C., Platzer, K., Rump, P., Skehel, P. A., Wyllie, D. J. A., Hardingham, G. E., van Ravenswaaij-Arts, C. M. A., Lesca, G. & Lemke, J. R., Jan-2019, In : Brain. 142, 1, p. 80-92 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

    Otter, M., Wevers, M., Pisters, M., Pfundt, R., Vos, Y., Nievelstein, R. J. & Stumpel, C., Aug-2017, In : Clinical case reports. 5, 8, p. 1213-1217 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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