1. 2019
  2. Conflicts between healthcare professionals and families of a multi-ethnic patient population during critical care: an ethnographic study

    Van Keer, R-L., Deschepper, R., Francke, A. L., Huyghens, L. & Bilsen, J., 8 Feb 2019, Top 5 Contributions in Critical Care & Emergency Medicine. Avid Science, p. 2-35 33 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  3. Clinical implementation of gene panel testing for lysosomal storage diseases

    Gheldof, A., Seneca, S., Stouffs, K., Lissens, W., Jansen, A., Laeremans, H., Verloo, P., Schoonjans, A. S., Meuwissen, M., Barca, D., Martens, G. & De Meirleir, L., 1 Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, 11 p., e00527.

    Research output: Contribution to journalArticle

  4. Best use of the tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) checklist

    De Vries, P. J. & Jansen, A., Feb 2019, In : Developmental Medicine & Child Neurology. 61, 2, p. 112-113 2 p.

    Research output: Contribution to journalComment/debate

  5. Clinical implementation of gene panel testing for lysosomal storage diseases

    Gheldof, A., Seneca, S., Stouffs, K., Lissens, W., Jansen, A., Laeremans, H., Verloo, P., Schoonjans, A-S., Meuwissen, M., Barca, D., Martens, G. & De Meirleir, L., Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, e00527.

    Research output: Contribution to journalArticle

  6. The landscape of epilepsy-related GATOR1 variants

    Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 69 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M-L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A-S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A-S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S., Baulac, S. & Baulac, S., Feb 2019, In : Genetics in Medicine. 21, 2, p. 398-408 11 p.

    Research output: Contribution to journalArticle

  7. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M. & 49 others, Jansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yüksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X. A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J. D., Leroux, D., Boerkoel, C. F., Klion, A., Carter, M. C., Groza, T., Smedley, D., Haendel, M. A., Mungall, C. & Robinson, P. N., 8 Jan 2019, In : Nucleic Acids Research. 47, D1, p. D1018-D1027 10 p.

    Research output: Contribution to journalArticle

  8. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

    Jansen, A. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., D'Amato, L., d'Augères, G. B., de Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., O'Callaghan, F. & 9 others, Qin, J., Sander, V., Sauter, M., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B. & Kingswood, J. C., 2019, In : Frontiers in Neurology. 10, 9 p., 705.

    Research output: Contribution to journalArticle

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