1. 2019
  2. 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 othersvan 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 journalArticleResearchpeer-review

  3. 2018
  4. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

    University of Washington Center for Mendelian Genomics, 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 1009-1021 13 p.

    Research output: Contribution to journalArticleResearchpeer-review

  5. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

    Stouffs, K., Moortgat, S., Vanderhasselt, T., Vandervore, L., Dica, A., Mathot, M., Keymolen, K., Seneca, S., Gheldof, A., De Meirleir, L. & Jansen, A. C., 1 Dec 2018, In : European Journal of Medical Genetics. 61, 12, p. 733-737 5 p.

    Research output: Contribution to journalArticleResearchpeer-review

  6. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

    Vandervore, L. V., Schot, R., Hoogeboom, A. J. M., Lincke, C., de Coo, I. F., Lequin, M. H., Dremmen, M., van Unen, L. M. A., Saris, J. J., Jansen, A. C., van Slegtenhorst, M. A., Wilke, M. & Mancini, G. M. S., 1 Dec 2018, In : European Journal of Medical Genetics. 61, 12, p. 783-789 7 p.

    Research output: Contribution to journalArticleResearchpeer-review

  7. Expanding the clinical spectrum of biallelic ZNF335 variants

    Stouffs, K., Stergachis, A. B., Vanderhasselt, T., Dica, A., Janssens, S., Vandervore, L., Gheldof, A., Bodamer, O., Keymolen, K., Seneca, S., Liebaers, I., Jayaraman, D., Hill, H. E., Partlow, J. N., Walsh, C. A. & Jansen, A. C., Aug 2018, In : Clinical Genetics. 94, 2, p. 246-251 6 p.

    Research output: Contribution to journalArticleResearchpeer-review

  8. 2017
  9. 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 journalArticleResearchpeer-review

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