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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Comment/debate

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 journal › Article

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 journal › Article

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 journal › Article

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 journal › Article