1. 2020
  2. SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

    Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., Guerrini, R., Fujiwara, Y., Miyatake, S., Ben-Zeev, B., Bassan, H., Reish, O., Marom, D., Hauser, N., Vu, T-A., Ackermann, S. & 16 others, Spencer, C. E., Lippa, N., Srinivasan, S., Charzewska, A., Hoffman-Zacharska, D., Fitzpatrick, D., Harrison, V., Vasudevan, P., Joss, S., Pilz, D. T., Fawcett, K. A., Helbig, I., Matsumoto, N., Kearney, J. A., Fry, A. E. & Goldberg, E. M., 1 Aug 2020, In : Annals of Neurology. 88, 2, p. 348-362 15 p.

    Research output: Contribution to journalArticle

  3. Lack of genotype-phenotype correlation in basal cell nevus syndrome: a Dutch multicenter retrospective cohort study

    Cosgun, B., Reinders, M. G. H. C., van Geel, M., Steijlen, P. M., van Hout, A. F. W., Leter, E. M., van der Smagt, J. J., van Hagen, J. M., Berger, L. P. V., Kets, C. M., Wagner, A., Aalfs, C. M., Hes, F. J., van der Kolk, L. E., Gille, J. J. P. & Mosterd, K., Aug 2020, In : Journal of the American Academy of Dermatology. 83, 2, p. 604-607 4 p.

    Research output: Contribution to journalArticle

  4. Phase I study of intermittent olaparib capsule or tablet dosing in combination with carboplatin and paclitaxel (part 2)

    van der Noll, R., Jager, A., Ang, J. E., Marchetti, S., Mergui-Roelvink, M. W. J., de Bono, J. S., Lolkema, M. P., de Jonge, M. J. A., van der Biessen, D. A., Brunetto, A. T., Arkenau, H-T., Tchakov, I., Beijnen, J. H., De Grève, J. & Schellens, J. H. M., Aug 2020, In : Investigational New Drugs. 38, 4, p. 1096-1107 12 p.

    Research output: Contribution to journalArticle

  5. Defining the phenotypical spectrum associated with variants in TUBB2A

    Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Régal, L., Romaniello, R., Wieczorek, D., Storm, T. M., Schaeferhoff, K., Hehr, U., Kuechler, A., Krägeloh-Mann, I., Haack, T. B., Kasteleijn, E., Schot, R., Mancini, G. M. S., Webster, R., Mohammad, S., Leventer, R. J., Mirzaa, G. & 5 others, Dobyns, W. B., Bahi-Buisson, N., Meuwissen, M., Jansen, A. C. & Stouffs, K., 22 Jun 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  6. In Silico Design and Validation of OvMANE1, a Chimeric Antigen for Human Onchocerciasis Diagnosis

    Shintouo, C. M., Shey, R. A., Nebangwa, D. N., K Esoh, K., Nongley, N. F., Nguve, J. E., Giron, P., Mutesa, L., Vanhamme, L., Souopgui, J., Ghogomu, S. M. & Njemini, R., 22 Jun 2020, In : PLoS Pathogens. 9, 6, 495.

    Research output: Contribution to journalArticle

  7. Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD)

    Duquesne, S., Nassogne, M-C., Clapuyt, P., Stouffs, K. & Sznajer, Y., 18 Jun 2020, In : European Journal of Medical Genetics. 63, 9, 4 p., 103991.

    Research output: Contribution to journalScientific review

  8. An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis

    De Luca, C., Bevilacqua, E., Badr, D. A., Cannie, M. M., Sanchez, T. C., Segers, V., Keymolen, K. & Jani, J. C., May 2020, In : American Journal of Medical Genetics Part A. 182, 5, p. 1255-1258 3 p.

    Research output: Contribution to journalArticle

  9. The Relationship Between Tumor-Infiltrating Lymphocytes, PD-L1 Expression, Driver Mutations and Clinical Outcome Parameters in Non-Small Cell Lung Cancer Adenocarcinoma in Patients with a Limited to no Smoking History

    Mignon, S., Willard-Gallo, K., Van den Eynden, G., Salgado, R., Decoster, L., Marien, K. M., Vansteenkiste, J. F., Teugels, E. & De Grève, J., Apr 2020, In : Pathology oncology research. 26, 2, p. 1221-1228 8 p.

    Research output: Contribution to journalArticle

  10. The association of CTDP1 mutation with malformations of cortical development

    Yildirim, H., Kerkhove, L., Dimitrov, B., Cannaerts, E., Sermon, K., Stouffs, K. & Jansen, A., 6 Mar 2020.

    Research output: Unpublished contribution to conferencePoster

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