prof. dr. R.J. (Richard) Sinke

Professor

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. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

    Hoorntje, E. T., Posafalvi, A., Syrris, P., van der Velde, K. J., Bolling, M. C., Protonotarios, A., Boven, L. G., Amat-Codina, N., Groeneweg, J. A., Wilde, A. A., Sobreira, N., Calkins, H., Hauer, R. N. W., Jonkman, M. F., McKenna, W. J., Elliott, P. M., Sinke, R. J., van den Berg, M. P., Chelko, S. P., James, C. A., van Tintelen, J. P., Judge, D. P. & Jongbloed, J. D. H., 30-Aug-2018, In : PLoS ONE. 13, 8, 14 p., e0203078.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 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

  4. Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans

    Oldoni, F., van Capelleveen, J. C., Dalila, N., Wolters, J. C., Heeren, J., Sinke, R. J., Hui, D. Y., Dallinga-Thie, G. M., Frikke-Schmidt, R., Hovingh, K. G., van de Sluis, B., Tybjaerg-Hansen, A. & Kuivenhoven, J. A., Jul-2018, In : Arteriosclerosis, thrombosis, and vascular biology. 38, 7, p. 1440-1453 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Generalized ichthyotic peeling skin syndrome due to FLG2 mutations

    Bolling, M., Jan, S., Pasmooij, A., Lemmink, H., Franke, L., Yenamandra, V., Sinke, R., van den Akker, P. & Jonkman, M. F., May-2018, In : Journal of Investigative Dermatology. 138, 5, p. S128 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

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Activities
  1. FUSS is niet nodig als je de VUS er uit haalt.

    Richard Sinke (Invited speaker)
    17-Apr-2018

    Activity: Talk or presentationProfessional

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