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Danielle Veenma

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  • CAMK2; four genes, one syndrome? Delineation of genotype–phenotype correlations

    Cheung, J. S., van Woerden, G. M. & Veenma, D. C. M., Feb 2025, In: Current Opinion in Neurobiology. 90, 102935.

    Research output: Contribution to journal › Review article › Academic › peer-review

    Open Access
    File
    4 Downloads (Pure)

  • Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

    Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J. H., Ge, Y. H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A. & Emrick, L. T. & 67 others, Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Ben-Zeev, B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 1 May 2024, In: Brain : a journal of neurology. 147, 5, p. 1837-1855 19 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    3 Citations (Scopus)

  • Developmental epileptic encephalopathy in <i>DLG4</i>-related synaptopathy

    Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernandez, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denomme-Pichon, A.-S., Dye, T. J., Fazzi, E., Felt, R., Fernandez-Jaen, A., Fernandez-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A. & Gomez-Andres, D. & 44 others, Greiner, H. M., Guerrini, R., Haanpaeae, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Moller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodriguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tuemer, Z. & Rubboli, G., Apr 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    2 Citations (Scopus)

  • Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6

    van der Vlis, T. A. M. B., Boeykens, A., Jacobs, E., Veenma, D. C. M., Thompson, D. N. P., Bannink, N., Joor, F., Renkens, J., Rutges, J. P. H. J., Harhangi, B. S. & Spoor, J. K. H., Mar 2024, In: Spine Deformity. 12, 2, p. 507-511 5 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    3 Downloads (Pure)

  • Role of CAMK2D in neurodevelopment and associated conditions

    Rigter, P. M. F., de Konink, C., Dunn, M. J., Proietti Onori, M., Humberson, J. B., Thomas, M., Barnes, C., Prada, C. E., Weaver, K. N., Ryan, T. D., Caluseriu, O., Conway, J., Calamaro, E., Fong, C. T., Wuyts, W., Meuwissen, M., Hordijk, E., Jonkers, C. N., Anderson, L. & Yuseinova, B. & 22 others, Polonia, S., Beysen, D., Stark, Z., Savva, E., Poulton, C., McKenzie, F., Bhoj, E., Bupp, C. P., Bézieau, S., Mercier, S., Blevins, A., Wentzensen, I. M., Xia, F., Rosenfeld, J. A., Hsieh, T. C., Krawitz, P. M., Elbracht, M., Veenma, D. C. M., Schulman, H., Stratton, M. M., Küry, S. & van Woerden, G. M., 1 Feb 2024, In: American Journal of Human Genetics. 111, 2, p. 364-382 19 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    4 Citations (Scopus)
View all 23 research outputs