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Vyne van der Schoot

20182019

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

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Stevens, S. J. C., van der Schoot, V., Leduc, M. S., Rinne, T., Lalani, S. R., Weiss, M. M., van Hagen, J. M., Lachmeijer, A. M. A., Stockler-Ipsiroglu, S. G., Lehman, A. & Brunner, H. G., 1 Jul 2018, In : Human Mutation. 39, 7, p. 1014-1023 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

Heijligers, M., Van Montfoort, A., Meijer-Hoogeveen, M., Broekmans, F., Bouman, K., Homminga, I., Dreesen, J., Paulussen, A., Engelen, J., Coonen, E., Van der Schoot, V., van Deursen-Luijten, M., Muntjewerff, N., Peeters, A., van Golde, R., van der Hoeven, M., Arens, Y. & de Die-Smulders, C., Nov 2018, In : Journal of Assisted Reproduction and Genetics. 35, 11, p. 1995-2002 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

van der Schoot, V., de Munnik, S., Venselaar, H., Elting, M., Mancini, G. M. S., Ravenswaaij-Arts, C. M. A., Anderlid, B-M., Brunner, H. G. & Stevens, S. J. C., 1 May 2018, In : Molecular genetics & genomic medicine. 6, 3, p. 393-400 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access