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

Professor

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

Research

Publications
  1. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

    Almomani, R., Herkert, J. C., Posafalvi, A., Post, J. G., Boven, L. G., van der Zwaag, P. A., Willems, P. H. G. M., van Veen-Hof, I. H., Verhagen, J. M. A., Wessels, M. W., Nikkels, P. G. J., Wintjes, L. T., van den Berg, M. P., Sinke, R. J., Rodenburg, R. J., Niezen-Koning, K. E., van Tintelen, J. P. & Jongbloed, J. D. H., 7-Sep-2019, In : JOURNAL OF MEDICAL GENETICS. 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. WHAT IS THE ORIGIN OF SEVERE HYPERCHOLESTEROLEMIA IN A LARGE COHORT OF EMIRATIS WITH A HIGH PREVALANCE OF TYPE 2 DIABETES

    Rimbert, A., Kuivenhoven, J. A., Lansberg, P., Viel, M., Kanninga, R., Johansson, L., Kuipers, F., Bloks, V., van Faassen, M., Koehorst, M., Sinke, R., Daggag, H., Al Tikriti, A. & Barakat, M. T., Aug-2019, In : ATHEROSCLEROSIS. 287, p. E198-E199 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  3. GENDER-SPECIFIC DIFFERENCES AT BOTH EXTREME ENDS OF THE LDL CHOLESTEROL DISTRIBUTION CURVE

    Rimbert, A., Balder, J. W., Zhang, X., Wolters, K., Lansberg, P., Viel, M., Kanninga, R., Johansson, L., Bloks, V., van Daasen, M., Koehorst, M., Kuipers, F., Sinke, R., Groen, A., Dallinga-Thie, G. & Kuivenhoven, J. A., Aug-2019, In : ATHEROSCLEROSIS. 287, p. E64 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  4. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., 21-Aug-2019, In : Human Mutation.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 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

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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

View all (1) »

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