20122019

Research output per year

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Research Output

1 in 38 individuals at risk of a dominant medically actionable disease

Haer-Wigman, L., van der Schoot, V., Feenstra, I., Vulto-van Silfhout, A. T., Gilissen, C., Brunner, H. G., Vissers, L. E. L. M. & Yntema, H. G., Feb 2019, In : European Journal of Human Genetics. 27, 2, p. 325-330 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

van Tienen, F., Lindsey, P., Kamps, M., Krapels, I., Ramaekers, F., Brunner, H., van den Wijngaard, A. & Broers, J., Mar 2019, In : European Journal of Human Genetics. 27, 3, p. 389–399 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)

15 Feb 2019, In : Nature Communications. 10, p. 1-4 4 p., 883.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access

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

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Blok, L. S., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., van Gassen, K. L., Firth, H., Tomkins, S., Bodek, S., Study, T. D. D. D., Ounap, K., Wojcik, M. H., Cunniff, C., Bergstrom, K., Powis, Z., Tang, S., Shinde, D. N., Au, C., Iglesias, A. D. & 19 others, Izumi, K., Leonard, J., Abou Tayoun, A., Baker, S. W., Tartaglia, M., Niceta, M., Dentici, M. L., Okamoto, N., Miyake, N., Matsumoto, N., Vitobello, A., Faivre, L., Philippe, C., Gilissen, C., Wiel, L., Pfundt, R., Deriziotis, P., Brunner, H. G. & Fisher, S. E., Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 403-412 10 p.

Research output: Contribution to journalArticleAcademicpeer-review