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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

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype

    Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez, E., Lal, D., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M., Deprez, M., de Waele, L., Brilstra, E., Verbeek, N. E., van Kempen, M. V. K., Visser, G., Braakman, H. M. H., & 20 othersHaeusler, M., Elbracht, M., Sternman, D., Haeusler, M., Elbracht, M., Sternman, D., Vaher, U., Smol, T., Kennedy, J., Klein, K. M., Au, B., Smyth, K., Morgan, T., Dewenter, M., Dinopoulos, A., Lederer, D., Liao, V., Ahring, P. K., Moller, R. S. & Gardella, E., 1. Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 278-279

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • 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