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Margot Reijnders

20182019

Research output per year

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Research Output

  • 2 Article
  • 2 Erratum / corrigendum

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Diets, I. J., van der Donk, R., Baltrunaite, K., Waanders, E., Reijnders, M. R. F., Dingemans, A. J. M., Pfundt, R., Vulto-van Silfhout, A. T., Wiel, L., Gilissen, C., Thevenon, J., Perrin, L., Afenjar, A., Nava, C., Keren, B., Bartz, S., Peri, B., Beunders, G., Verbeek, N., van Gassen, K. & 18 others, Thiffault, I., Cadieux-Dion, M., Huerta-Saenz, L., Wagner, M., Konstantopoulou, V., Vodopiutz, J., Griese, M., Boel, A., Callewaert, B., Brunner, H. G., Kleefstra, T., Hoogerbrugge, N., de Vries, B. B. A., Hwa, V., Dauber, A., Hehir-Kwa, J. Y., Kuiper, R. P. & Jongmans, M. C. J., 4 Apr 2019, In : American Journal of Human Genetics. 104, 4, p. 758-766 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Nellaker, C., Alkuraya, F. S., Baynam, G., Bernier, R. A., Bernier, F. P. J., Boulangerw, V., Brudno, M., Brunner, H. G., Clayton-Smith, J., Cogne, B., Dawkins, H. J. S., deVries, B. B. A., Douzgou, S., Dudding-Byth, T., Eichler, E. E., Ferlaino, M., Fieggen, K., Firth, H., FitzPatrick, D. R., Gration, D. & 33 others, Groza, T., Haende, M., Hallowel, N., Hamosh, A., Hehir-Kwa, J., Hitz, M-P., Hughes, M., Kini, U., Kleefstra, T., Kooy, R. F., Krawitz, P., Kury, S., Lees, M., Lyon, G. J., Lyonnet, S., Marcadier, J. L., Meyn, S., Moslerova, V., Politei, J. M., Poulton, C. C., Raymond, F. L., Reijnders, M. R. F., Robinson, P. N., Romano, C., Rose, C. M., Sainsbury, D. C. G., Schofield, L., Sutton, V. R., Tumovec, M., Van Dijck, A., Van Esch, H., Wilkie, A. O. M. & Minerva Consortium, 29 Jul 2019, In : Frontiers in Genetics. 10, 9 p., 611.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

DDD Study & C4RCD Res Grp, 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 196-196 1 p.

Research output: Contribution to journalErratum / corrigendumAcademic