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Servi Stevens

20102020

Research output per year

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Research Output

  • 28 Article
  • 1 Comment/Letter to the editor
  • 1 Review article

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

Kerkhofs, C., Stevens, S. J. C., Faust, S. N., Rae, W., Williams, A. P., Wurm, P., Ostern, R., Fockens, P., Wuerfel, C., Laass, M., Kokke, F., Stegmann, A. P. A. & Brunner, H. G., Jan 2020, In : Human Mutation. 41, 1, p. 196-202 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordass, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernandez-Jaen, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 2019, In : Human Mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 31 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Buettner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M., Malone, S., Gecz, J., Stegmann, A. P. A. & Univ Washington Ctr Mendelian Geno, 15 Oct 2019, In : Nature Communications. 10, 17 p., 4679.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., de Die-Smulders, C. E. M., Duin, L. K., Faas, B. H. W., Feenstra, I., Haak, M. C., Hoffer, M. J. V., den Hollander, N. S., Hollink, I. H. I. M., Jehee, F. S., Knapen, M. F. C. M. & 21 others, Kooper, A. J. A., van Langen, I. M., Lichtenbelt, K. D., Linskens, I. H., van Maarle, M. C., Oepkes, D., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D. F. C. M., Srebniak, M. I., Suijkerbuijk, R. F., Tan-Sindhunata, G. M., van der Ven, A. J. E. M., van Zelderen-Bhola, S. L., Henneman, L., Galjaard, R-J. H., Van Opstal, D., Weiss, M. M. & Dutch NIPT Consortium, 5 Dec 2019, In : American Journal of Human Genetics. 105, 6, p. 1091-1101 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., Van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M-L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., de Vries, P., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., 1 Jan 2018, In : European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

Research output: Contribution to journalArticleAcademicpeer-review