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  • 2022

    Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M., & 37 othersGeßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., Aug 2022, In: Clinical Genetics. 102, 2, p. 98-109

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  • Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

    Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Pérez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H., Verbeek, N. E., & 27 othersvan Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H. M. H., Haeusler, M., Elbracht, M., Vaher, U., Smol, T., Lemke, J. R., Platzer, K., Kennedy, J., Klein, K. M., Au, P. Y. B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M. K., Dinopoulos, A., Campbell, A. J., Lal, D., Lederer, D., Liao, V. W. Y., Ahring, P. K., Møller, R. S. & Gardella, E., Mar 2022, In: Genetics in Medicine. 24, 3, p. 681-693

    Research output: Contribution to journalJournal articleResearchpeer-review