1. What if we would turn a diagnostic multi-cancer gene panel into a screening tool?

   Johansson, L. F., van Dijk-Bos, K. K., van der Hout, A. H., Knopperts, A. P., Leegte, B., ter Beest, J., Vos, Y. J., van Diemen, C. C., Kok, K., van Langen, I. M., Swertz, M. A., Wijmenga, C., Weersma, R. K., Sinke, R. J., Sikkema-Raddatz, B., Sijmons, R. H. & Westers, H., Oct-2019, In : European Journal of Human Genetics. 27, p. 1126-1126 1 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

2. In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe

   Gostynska, K. B., Bremer, J., Van Dijk-Bos, K. K., Sinke, R., Pasmooij, A. M. G. & Jonkman, M. F., 2017, In : Acta dermato-venereologica. 97, 1, p. 105-107 3 p.

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

3. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

   Johansson, L. F., van Dijk, F., de Boer, E. N., van Dijk-Bos, K. K., Jongbloed, J. D. H., Hout , van der, A., Westers, H., Sinke, R. J., Swertz, M. A., Sijmons, R. H. & Sikkema-Raddatz, B., May-2016, In : Human Mutation. 37, 5, p. 457-464 8 p.

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

4. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

   Rump, P., Jazayeri, O., van Dijk-Bos, K., Johansson, L. F., van Essen, A. J., Verheij, J. B. G. M., Veenstra-Knol, H. E., Redeker, E. J. W., Mannens, M. M. A. M., Swertz, M. A., Alizadeh, B. Z., van Ravenswaaij-Arts, C. M. A., Sinke, R. J. & Sikkema-Raddatz, B., 4-Feb-2016, In : BMC Medical Genomics. 9, 1, 9 p., 7.

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

5. High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors

   Monteira Ferreira, A. M., Tuominen, I., van Dijk-Bos, K., Sanjabi, B., van der Sluis, T., van der Zee, A. G., Hollema, H., Zazula, M., Sijmons, R. H., Aaltonen, L. A., Westers, H. & Hofstra, R. M. W., Dec-2014, In : Human Mutation. 35, 12, p. 1442-1445 4 p.

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

View all (11) »