dr. P.C. (Peter) van den Akker

Clinical geneticist

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. Murine type VII collagen distorts outcome in human skin graft mouse models for dystrophic epidermolysis bullosa

    Bremer, J., Kramer, D., Eichhorn, D., Escamez, M., Gostyski, A., Del Rio, M., Larcher, F., Jonkman, M. F., van den Akker, P. & Pasmooij, A., May-2018, In : Journal of Investigative Dermatology. 138, 5, p. S127 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  3. Therapies for epidermolysis bullosa: delivery is key

    Bremer, J. & van den Akker, P. C., Jan-2019, In : The British journal of dermatology. 180, 1, p. 17-19 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations

    Bolling, M. C., Jan, S. Z., Pasmooij, A. M. G., Lemmink, H. H., Franke, L. H., Yenamandra, V. K., Sinke, R. J., van den Akker, P. C. & Jonkman, M. F., Aug-2018, In : Journal of Investigative Dermatology. 138, 8, p. 1881-1884 4 p.

    Research output: Contribution to journalLetterAcademicpeer-review

  5. Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa

    Bremer, J., Kramer, D., Eichhorn, D. S., Gostyński, A., Diercks, G. F. H., Jonkman, M. F., van den Akker, P. C. & Pasmooij, A. M. G., 17-Jul-2018, In : Experimental dermatology. 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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