Collaborations and top research areas from the last five years

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  • Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

    Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S., Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T., Park, S. M., Jewell, R., Brown, N., Pais, L., Jacquemont, S., Jizi, K., Ravenswaaij-Arts, C. M. A. V., Kroes, H. Y., Stumpel, C. T. R. M., Ockeloen, C. W., & 84 othersDiets, I. J., Nizon, M., Vincent, M., Cogné, B., Besnard, T., Kambouris, M., Anderson, E., Zackai, E. H., McDougall, C., Donoghue, S., O'Donnell-Luria, A., Valivullah, Z., O'Leary, M., Srivastava, S., Byers, H., Leslie, N., Mazzola, S., Tiller, G. E., Vera, M., Shen, J. J., Boles, R., Jain, V., Brischoux-Boucher, E., Kinning, E., Simpson, B. N., Giltay, J. C., Harris, J., Keren, B., Guimier, A., Marijon, P., de Vries, B. B. A., Motter, C. S., Mendelsohn, B. A., Coffino, S., Gerkes, E. H., Afenjar, A., Visconti, P., Bacchelli, E., Maestrini, E., Delahaye-Duriez, A., Gooch, C., Hendriks, Y., Adams, H., Thauvin-Robinet, C., Josephi-Taylor, S., Bertoli, M., Parker, M. J., Rutten, J. W., Caluseriu, O., Vernon, H. J., Kaziyev, J., Zhu, J., Kremen, J., Frazier, Z., Osika, H., Breault, D., Nair, S., Lewis, S. M. E., Ceroni, F., Viggiano, M., Posar, A., Brittain, H., Giovanna, T., Giulia, G., Quteineh, L., Ha-Vinh Leuchter, R., Zonneveld-Huijssoon, E., Mellado, C., Marey, I., Coudert, A., Aracena Alvarez, M. I., Kennis, M. G. P., Bouman, A., Roifman, M., Amorós Rodríguez, M. I., Ortigoza-Escobar, J. D., Vernimmen, V., Sinnema, M., Pfundt, R., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Weksberg, R. & Banka, S., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1626-1642 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

    4 Feb 2023, In: The Lancet. 401, 10374, p. 347-356 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups

    Witjes, V. M., Braspenning, J. C. C., Hoogerbrugge, N., Smolders, Y. H. C. M., Hermkens, D. M. A., Mourits, M. J. E., Ligtenberg, M. J. L., Ausems, M. G. E. M. & de Hullu, J. A., Jan 2023, In: Familial cancer. 22, 1, p. 1-11 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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