drs. Y.J. Vos

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

Research

Publications
  1. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

    Wijnen, I. G. M., Veenstra-Knol, H. E., Vansenne, F., Gerkes, E. H., de Koning, T., Vos, Y. J., Tijssen, M. A. J., Sival, D., Darin, N., Vanhoutte, E. K., Oosterloo, M., Pennings, M., van de Warrenburg, B. P. & Kamsteeg, E-J., 10-Mar-2020, In : EJHG. 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

    Terlouw, D., Suerink, M., Singh, S. S., Gille, H. J. J. P., Hes, F. J., Langers, A. M. J., Morreau, H., Vasen, H. F. A., Vos, Y. J., van Wezel, T., Tops, C. M., ten Broeke, S. W. & Nielsen, M., Feb-2020, In : European Journal of Human Genetics. 28, 2, p. 222-230 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

    Suerink, M., Rodriguez-Girondo, M., van der Klift, H. M., Colas, C., Brugieres, L., Lavoine, N., Jongmans, M., Capella Munar, G., Evans, D. G., Farrell, M. P., Genuardi, M., Goldberg, Y., Gomez-Garcia, E., Heinimann, K., Hoell, J., Aretz, S., Jasperson, K. W., Kedar, I., Modi, M. B., Nikolaev, S., van Os, T. A. M., Ripperger, T., Rueda, D., Senter, L., Sjursen, W., Sunde, L., Therkildsen, C., Tibiletti, M. G., Trainer, A. H., Vos, Y. J., Wagner, A., Winship, I., Wimmer, K., Zimmermann, S. Y., Vasen, H. F., van Asperen, C. J., Houwing-Duistermaat, J. J., ten Broeke, S. W. & Nielsen, M., Dec-2019, In : Genetics in Medicine. 21, 12, p. 2706-2712 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Rapid whole exome sequencing in critically ill children

    Kerstjens-Frederikse, W. S., van der Hout, A. H., Vos, Y. J., Dijkhuizen, T., Verheij, J. B. G. M., van Langen, I. M., Sikkema-Raddatz, B., de Groot, M. J., Drok, H. H. J., Kinds, R., Beunders, G., Zonneveld-Huijssoon, E., Herkert, J. C., Vansenne, F., Wassink-Ruiter, J. S. K., Gerkes, E., van der Velde, K. J., Swertz, M. A., Sinke, R. J. & van Diemen, C. C., Jul-2019, In : European Journal of Human Genetics. 27, p. 508-509 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  5. Implementing fast whole exome sequencing sequencing as diagnostic test for fetal multiple congenital anomalies on ultrasound

    Corsten-Janssen, N., el Mecky, J., Bouman, K., Vos, Y. J., Verheij, J. B. G. M., Westers, H., Kinds, R., Scheper, A. J., Sikkema-Raddatz, B., Sinke, R. J., van Langen, I. M., Sijmons, R. H. & van Diemen, C. C., Jul-2019, In : European Journal of Human Genetics. 27, p. 540-540 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

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Activities
  1. 7th International Cardiovascular Genomic Medicine Conference

    Yvonne Vos (Speaker), Mohamed Alimohamed (Speaker), Lennart Johansson (Speaker), Helga Westers (Speaker), Richard Sinke (Speaker), Rolf Sijmons (Speaker), Birgit Sikkema-Raddatz (Speaker), Jan Jongbloed (Speaker), Paul Zwaag, van der (Speaker)
    4-Dec-20195-Dec-2019

    Activity: Participating in or organising an eventParticipation in conferenceProfessional

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