dr. E. Zonneveld-Huijssoon

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E-mail:
e.zonneveld-huijssoon01 umcg.nl

Research

Publications
  1. National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

    Elsink, K., Huibers, M. M. H., Hollink, I. H. I. M., van der Veken, L. T., Ernst, R. F., Simons, A., Zonneveld-Huijssoon, E., van der Hout, A. H., Abbott, K. M., Hoischen, A., Pieterse, M., Kuijpers, T. W., van Montfrans, J. M. & van Gijn, M. E., 30-Jul-2020, In : European Journal of Human Genetics. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

    Lezzerini, M., Penzo, M., O'donohue, M-F., Vieira, C. M. D. S., Saby, M., Elfrink, H. L., Diets, I. J., Hesse, A-M., Coute, Y., Gastou, M., Nin-Velez, A., Nikkels, P. G. J., Olson, A. N., Zonneveld-Huijssoon, E., Jongmans, M. C. J., Zhang, G., van Weeghel, M., Houtkooper, R. H., Wlodarski, M. W., Kuiper, R. P., Bierings, M. B., ten Bosch, J. V. D. W., Leblanc, T., Montanaro, L., Dinman, J. D., Da Costa, L., Gleizes, P-E. & MacInnes, A. W., 24-Jan-2020, In : Nucleic Acids Research. 48, 2, p. 770-787 18 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Cohesin complex-associated holoprosencephaly

    Kruszka, P., Berger, S., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R., Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., Zonneveld-Huijssoon, E., Stephan, M. J., Hogue, J., Hu, P., Tanima-Nagai, M., Everson, J. L., Prasad, C., Cereda, A., Iascone, M., Schreiber, A., Zurcher, V., Corsten-Janssen, N., Escobar, L., Clegg, N. J., Delgado, M. R., Hajirnis, O., Balasubramanian, M., Kayserili, H., Deardorff, M., Poot, R. A., Wendt, K. S., Lipinski, R. J. & Muenke, M., Sep-2019, In : Brain. 142, p. 2631-2643 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    DDD Study, Dec-2019, In : Genetics in Medicine. 21, 12, p. 2723-2733 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 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

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ID: 36381416