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

Professor

prof. dr. R.J. (Richard) Sinke
Telephone:
E-mail:
r.j.sinke umcg.nl

Research

Publications
  1. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

    Li, S., van der Velde, K. J., de Ridder, D., van Dijk, A. D. J., Soudis, D., Zwerwer, L. R., Deelen, P., Hendriksen, D., Charbon, B., van Gijn, M. E., Abbott, K., Sikkema-Raddatz, B., van Diemen, C. C., Kerstjens-Frederikse, W. S., Sinke, R. J. & Swertz, M. A., 24-Aug-2020, In : Genome medicine. 12, 1, p. 75

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

    Bremer, J., van der Heijden, E. H., Eichhorn, D. S., Meijer, R., Lemmink, H. H., Scheffer, H., Sinke, R. J., Jonkman, M. F., Pasmooij, A. M. G. & Van den Akker, P. C., 18-Dec-2019, In : Molecular therapy - Nucleic acids. 18, p. 465-475 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Allele specific expression identifies rare variants as cause for extreme allelic imbalance

    BIOS Consortium, Jul-2019, In : European Journal of Human Genetics. 27, p. 601 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  4. NGS expanded carrier screening in the Netherlands: initial implementation results

    Abbott, K. M., Dijkhuizen, T., Veldhuis, M., Schuurmans, J., van Langen, I. & Sinke, R. J., Jul-2019, In : European Journal of Human Genetics. 27, p. 13-13 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  5. Genetics, lifestyle and cholesterol in young women

    Rimbert, A., Balder, J., Zhang, X., Viel, M., Kanninga, R., van Dijk, F., Lansberg, P., Sinke, R. J. & Kuivenhoven, J., Jul-2019, In : European Journal of Human Genetics. 27, p. 148-148 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

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

    Richard Sinke (Invited speaker)
    17-Apr-2018

    Activity: Talk or presentationProfessional

View all (2) »

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