Research output per year
Research output per year
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates
Rimbert, A., Daggag, H., Lansberg, P., Buckley, A., Viel, M., Kanninga, R., Johansson, L., Dullaart, R. P. F., Sinke, R., Al Tikriti, A., Kuivenhoven, J. A. & Barakat, M. T., 3-Jan-2022, In: Frontiers in Genetics. 12, 7 p., 809256.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Downloads (Pure) -
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
Veldman, A., Kiewiet, M. B. G., Heiner-Fokkema, M. R., Nelen, M. R., Sinke, R. J., Sikkema-Raddatz, B., Voorhoeve, E., Westra, D., Dolle, M. E. T., Schielen, P. C. J. & van Spronsen, F. J., Mar-2022, In: International journal of neonatal screening. 8, 1, 11 p., 17.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
Alimohamed, M. Z., Johansson, L., Posafalvi, A., Boven, L. G., van Dijk, K. K., Walters, L., Vos, Y. J., Westers, H., Hoedemaekers, Y. M., Sinke, R. J., Sijmons, R. H., Sikkema-Raddatz, B., Jongbloed, J. D. H. & van der Zwaag, P. A., 1-Jun-2021, In: International Journal of Cardiology. 332, p. 99-104 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile19 Downloads (Pure) -
Feasibility of predicting allele specific expression from DNA sequencing using machine learning
Zhang, Z., van Dijk, F., de Klein, N., van Gijn, M. E., Franke, L. H., Sinke, R. J., Swertz, M. A. & van der Velde, K. J., 19-May-2021, In: Scientific Reports. 11, 1, 11 p., 10606.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Downloads (Pure) -
Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?
Huang, M., Nibbeling, E. A. R., Lagrand, T. J., Souza, I. A., Groen, J. L., Gandini, M. A., Zhang, F-X., Koelman, J. H. T. M., Adir, N., Sinke, R. J., Zamponi, G. W., Tijssen, M. A. J. & Verbeek, D. S., 21-Jan-2021, In: Molecular brain. 14, 1, p. 1-4 4 p., 18.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)20 Downloads (Pure)
Activities
- 2 Professional or public event
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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-2019 → 5-Dec-2019Activity: Talk and presentation › Professional or public presentation › Professional
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FUSS is niet nodig als je de VUS er uit haalt.
Richard Sinke (Invited speaker)
17-Apr-2018Activity: Talk and presentation › Professional or public presentation › Professional
Datasets
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Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d3.v1
Dataset
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Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. N. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d4.v1
Dataset