1. 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 journal › Article › Academic › peer-review

2. 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 journal › Article › Academic › peer-review

3. Correction to: The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1

   Imhann, F., Van der Velde, K. J., Barbieri, R., Alberts, R., Voskuil, M. D., Vila, A. V., Collij, V., Spekhorst, L. M., Van der Sloot, K. W. J., Peters, V., Van Dullemen, H. M., Visschedijk, M. C., Festen, E. A. M., Swertz, M. A., Dijkstra, G. & Weersma, R. K., 27-Mar-2019, In : Bmc gastroenterology. 19, 1, 1 p., 44.

   Research output: Contribution to journal › Article › Academic › peer-review

4. Skewed X-inactivation is common in the general female population

   BIOS Consortium & GoNL Consortium, Mar-2019, In : European Journal of Human Genetics. 27, 3, p. 455-465 11 p.

   Research output: Contribution to journal › Article › Academic › peer-review

5. Epidemioloog versus Data Scientist

   Peters, L. L., Velde, van der, J. & Li, S., Dec-2018, In : Epistel, Dutch Journal of Epidemiology. 2018, dec., p. 20-21 2 p.

   Research output: Contribution to journal › Article › Academic

View all (37) »