Division Laboratories and Pharmacy

Collaborations and top research areas from the last five years

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  • 16 Article
  • 1 Comment/Letter to the editor

  • 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 others, Diets, 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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-review

  • Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

    Hendricks, L. A. J., Hoogerbrugge, N., Mensenkamp, A. R., Brunet, J., Lleuger-Pujol, R., Høberg-Vetti, H., Haavind, M. T., Innella, G., Turchetti, D., Aretz, S., Spier, I., Tischkowitz, M., Jahn, A., Links, T. P., Olderode-Berends, M. J. W., Blatnik, A., Leter, E. M., Evans, D. G., Woodward, E. R. & Steinke-Lange, V. & 21 others, Anastasiadou, V. C., Colas, C., Villy, M. C., Benusiglio, P. R., Gerasimenko, A., Barili, V., Branchaud, M., Houdayer, C., Tesi, B., Yazicioglu, M. O., van der Post, R. S., Schuurs-Hoeijmakers, J. H. M., Vos, J. R., van Hest, L. P., Adank, M. A., Duijkers, F., Nielsen, M., Verbeek, K. C. J., van Ierland, Y., Giltay, J. C., 1 Jan 2023, In: Journal of the National Cancer Institute. 115, 1, p. 93-103 11 p.

    Research output: Contribution to journal › Article › Academic › peer-review

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