dr. E. Zonneveld-Huijssoon

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

Research

Publications
  1. 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

  2. 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

  3. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Test, 17-Jun-2019, In : Genome medicine. 11, 15 p., 38.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. 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

  5. Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations

    Weeke, L. C., Brilstra, E., Braun, K. P., Zonneveld-Huijssoon, E., Salomons, G. S., Koeleman, B. P., van Gassen, K. L. I., van Straaten, H. L., Craiu, D. & de Vries, L. S., Mar-2017, In : European Journal of Paediatric Neurology. 21, 2, p. 396-403 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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