1. 2017
  2. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

    Ogunjimi, B., Zhang, S-Y., Sorensen, K. B., Skipper, K. A., Carter-Timofte, M., Kerner, G., Luecke, S., Prabakaran, T., Cai, Y., Meester, J., Bartholomeus, E., Bolar, N. A., Vandeweyer, G., Claes, C., Sillis, Y., Lorenzo, L., Fiorenza, R. A., Boucherit, S., Dielman, C., Heynderickx, S. & 25 others, Elias, G., Kurotova, A., Vander Auwera, A., Verstraete, L., Lagae, L., Verhelst, H., Jansen, A., Ramet, J., Suls, A., Smits, E., Ceulemans, B., Van Laer, L., Wilson, G. P., Kreth, J., Picard, C., Von Bernuth, H., Fluss, J., Chabrier, S., Abel, L., Mortier, G., Fribourg, S., Mikkelsen, J. G., Casanova, J-L., Paludan, S. R. & Mogensen, T. H., 1 Sep 2017, In : Journal of Clinical Investigation. 127, 9, p. 3543-3556 14 p.

    Research output: Contribution to journalArticle

  3. QUALITY OF LIFE AND BURDEN OF DISEASE IN TUBEROUS SCLEROSIS COMPLEX (TSC): FINDINGS FROM TOSCA RESEARCH PROJECT

    Jansen, A. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Amato, L. D., Augeres, G. B. D., 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., Qin, J. & 7 others, Sander, V., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B. & Kingswood, J. C., Sep 2017, In : Journal of Intellectual Disability Research. 61, 9, p. 829-829

    Research output: Contribution to journalMeeting abstract (Journal)

  4. TUBEROUS SCLEROSIS COMPLEX-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): FURTHER RESULTS FROM THE TOSCA NATURAL HISTORY STUDY

    De Vries, P. J., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., Amato, L. D., Augeres, G. B. D., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Kingswood, J. C., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., O'Callaghan, F. & 8 others, Qin, J., Sander, V., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B. & Jansen, A. C., Sep 2017, In : Journal of Intellectual Disability Research. 61, 9, p. 828-829

    Research output: Contribution to journalMeeting abstract (Journal)

  5. Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

    Mills, J. D., Iyer, A. M., Van Scheppingen, J., Bongaarts, A., Anink, J. J., Janssen, B., Zimmer, T. S., Spliet, W. G., van Rijen, P. C., Jansen, F. E., Feucht, M., Hainfellner, J. A., Krsek, P., Zamecnik, J., Kotulska, K., Jozwiak, S., Jansen, A., Lagae, L., Curatolo, P., Kwiatkowski, D. J. & 9 others, Pasterkamp, R. J., Senthilkumar, K., von Oerthel, L., Hoekman, M. F., Gorter, J. A., Crino, P. B., Mhlebner, A., Scicluna, B. P. & Aronica, E., 14 Aug 2017, In : Scientific Reports - Nature. 7, 1, 16 p., 8089.

    Research output: Contribution to journalArticle

  6. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

    Vandervore, L., Stouffs, K., Tanyalçin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jørgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H. & Jansen, A. C., Jun 2017, In : Journal of Medical Genetics. 54, 6, p. 432-440 9 p.

    Research output: Contribution to journalArticle

  7. Referral of schoolchildren to classifying diagnostics of neurobiological developmental disorders. Case study: COS +.

    Van den Eede, M., Cloet, E., Jansen, A. & Leys, M., 17 May 2017.

    Research output: Unpublished contribution to conferencePoster

  8. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients

    Kingswood, J. C., d'Augeres, G. B., Belousova, E., Ferreira, J. C., Carter, T., Castellana, R., Cottin, V., Curatolo, P., Dahlin, M., de Vries, P. J., Feucht, M., Fladrowski, C., Gislimberti, G., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Nabbout, R., O'Callaghan, F., Benedik, M. P. & 9 others, Qin, J., Marques, R., Sander, V., Sauter, M., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B. & Jansen, A. C., 5 Jan 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 2 13 p., 2.

    Research output: Contribution to journalArticle

  9. 2016
  10. Infants dying suddenly and unexpectedly share demographic features with infants who die with retinal and dural bleeding: a review of neural mechanisms

    Squier, W., Mack, J. & Jansen, A. C., Dec 2016, In : Developmental Medicine & Child Neurology. 58, 12, p. 1223-1234 12 p.

    Research output: Contribution to journalArticle

  11. Primary maternal cytomegalovirus infections: accuracy of fetal ultrasound for predicting sequelae in offspring

    Leyder, M., Vorsselmans, A., Done, E., Van Berkel, K., Faron, G., Foulon, I., Naessens, A., Jansen, A., Foulon, W. & Gucciardo, L., Nov 2016, In : American Journal of Obstetrics & Gynecology. 215, 5, p. 638.e1-638.e8 8 p.

    Research output: Contribution to journalArticle

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