1. Predictive genetic testing in Huntington's disease: should a neurologist be involved?

   Oosterloo, M., Bijlsma, E. K., Verschuuren-Bemelmans, C. C., Schouten, M., de Die-Smulders, C. & Roos, R. A. C., Sep-2020, In : European Journal of Human Genetics. 28, 9, p. 1205-1209 5 p.

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

2. Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome

   Kleinendorst, L., van den Heuvel, L. M., Henneman, L. & van Haelst, M. M., Sep-2020, In : EJHG. 28, 9, p. 1196-1204 9 p.

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

3. National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

   Elsink, K., Huibers, M. M. H., Hollink, I. H. I. M., van der Veken, L. T., Ernst, R. F., Simons, A., Zonneveld-Huijssoon, E., van der Hout, A. H., Abbott, K. M., Hoischen, A., Pieterse, M., Kuijpers, T. W., van Montfrans, J. M. & van Gijn, M. E., 30-Jul-2020, In : European Journal of Human Genetics. 1, p. 20-28 9 p.

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

4. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

   CAUSES Study, Nambot, S., Faivre, L., Mirzaa, G., Thevenon, J., Bruel, A-L., Mosca-Boidron, A-L., Masurel-Paulet, A., Goldenberg, A., Le Meur, N., Charollais, A., Mignot, C., Petit, F., Rossi, M., Metreau, J., Layet, V., Amram, D., Boute-Benejean, O., Bhoj, E., Cousin, M. A., Kruisselbrink, T. M., Lanpher, B. C., Klee, E. W., Fiala, E., Grange, D. K., Meschino, W. S., Hiatt, S. M., Cooper, G. M., Olivie, H., Smith, W. E., Dumas, M., Lehman, A., Adam, S., du Souich, C., Elliott, A. M., Mwenifumbo, J., Nelson, T. N., van Karnebeek, C., Friedman, J. M., Inglese, C., Nizon, M., Guerrini, R., Vetro, A., Kaplan, E. S., Miramar, D., Van Gils, J., Fergelot, P., Bodamer, O., Herkert, J. C., Pajusalu, S. & Li, D., Jun-2020, In : European Journal of Human Genetics. 28, 6, p. 770-782 13 p.

   Research output: Contribution to journal › Review article › Academic › peer-review

5. Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands

   Broekstra, R., Aris-Meijer, J., Maeckelberghe, E., Stolk, R. & Otten, S., 31-Jul-2020, In : EJHG. 1, p. 11-19 9 p.

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

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