1. Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary

   Voorwinden, J. S., Plantinga, M., Ausems, M., Knoers, N., Velthuizen, M., Birnie, E., Lucassen, A. M., Ranchor, A. V. & van Langen, I. M., 27-Apr-2020, In : EJHG. 9 p.

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

2. Recontact about clinically significant variant reclassifications in cardiogenetics; patient experiences

   Halbersma-Konings, T. F., el Mecky, J., Ranchor, A. V., Plantinga, M., Birnie, E. & van Langen, I. M., Oct-2018, In : European Journal of Human Genetics. 26, p. 51-51 1 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

3. Boosting genotype-phenotype and translational research on rare diseases by establishing Findable, Accessible, Interoperable and Reusable (FAIR) data resources through data linking technologies

   van Enckevort, D., Carta, C., Thompson, R., Thompson, M., Ehrhart, F., Kaliyaperumal, R., Reihs, R., Sernadela, P., Jacobsen, A., Santos, L. O. B. D. S., Wilkinson, M. D., Mueller, H., Evelo, C. T. A., Oliveira, J. L., 't Hoen, P. A. C., Taruscio, D. & Roos, M., Oct-2018, In : European Journal of Human Genetics. 26, p. 708-708 1 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

4. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

   Wijnen, I. G. M., Veenstra-Knol, H. E., Vansenne, F., Gerkes, E. H., de Koning, T., Vos, Y. J., Tijssen, M. A. J., Sival, D., Darin, N., Vanhoutte, E. K., Oosterloo, M., Pennings, M., van de Warrenburg, B. P. & Kamsteeg, E-J., 10-Mar-2020, In : EJHG. 7 p.

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

5. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

   Pennings, M., Schouten, M., van Gaalen, J., Meijer, R. P. P., de Bot, S. T., Kriek, M., Saris, C. G. J., van den Berg, L. H., van Es, M. A., Zuidgeest, D. M. H., Elting, M. W., van de Kamp, J. M., Van Spaendonck-Zwarts, K. Y., de Die-Smulders, C., Brilstra, E. H., Verschuuren, C. C., de Vries, B. B. A., Bruijn, J., Sofou, K., Duijkers, F. A., Jaeger, B., Schieving, J. H., van de Warrenburg, B. P. & Kamsteeg, E-J., Jan-2020, In : European Journal of Human Genetics. 28, 1, p. 40-49 10 p.

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

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