1. 2019
  2. A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

    Auvin, S., Bissler, J. J., Cottin, V., Fujimoto, A., Hofbauer, G. F. L., Jansen, A. C., Jozwiak, S., Kerecuk, L., Kingswood, J. C., Moavero, R., Torra, R. & Villanueva, V., 30 Apr 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 91 10 p., 91.

    Research output: Contribution to journalArticle

  3. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

    Vandervore, L. V., Schot, R., Kasteleijn, E., Oegema, R., Stouffs, K., Gheldof, A., Grochowska, M. M., van der Sterre, M. L. T., van Unen, L. M. A., Wilke, M., Elfferich, P., van der Spek, P. J., Heijsman, D., Grandone, A., Demmers, J. A. A., Dekkers, D. H. W., Slotman, J. A., Kremers, G-J., Schaaf, G. J., Masius, R. G. & 12 others, van Essen, A. J., Rump, P., van Haeringen, A., Peeters, E., Altunoglu, U., Kalayci, T., Poot, R. A., Dobyns, W. B., Bahi-Buisson, N., Verheijen, F. W., Jansen, A. C. & Mancini, G. M. S., 1 Apr 2019, In : Brain. 142, 4, p. 867-884 18 p.

    Research output: Contribution to journalArticle

  4. Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

    Kingswood, J. 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. & 10 others, Qin, J., Sander, V., Sauter, M., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., Jansen, A. C. & TOSCA Consortium and TOSCA Investigators, 1 Mar 2019, In : Nephrology Dialysis Transplantation. 34, 3, p. 502-508 7 p.

    Research output: Contribution to journalArticle

  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., 1 Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, 11 p., e00527.

    Research output: Contribution to journalArticle

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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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