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  • 2023

    Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

    Blackburn, P. R., Ebstein, F., Hsieh, T-C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A., Joset, P., & 55 othersFerrero, G. B., Ciolfi, A., Husson, T., Guerrot, A-M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpál, J., Jech, R., Winkelmann, J., Koprušáková, M. T., Konstantopoulou, V., Younce, J. R., Shinawi, M., Mighton, C., Fung, C., Morel, C., Ellis, J. L., DiTroia, S., Barth, M., Bonneau, D., Krapels, I., Stegmann, S., van der Schoot, V., Brunet, T., Bußmann, C., Mignot, C., Courtin, T., Ravelli, C., Keren, B., Ziegler, A., Hasadsri, L., Pichurin, P. N., Klee, E. W., Grand, K., Sanchez-Lara, P. A., Krüger, E., Bézieau, S., Klinkhammer, H., Krawitz, P. M., Eichler, E. E., Tartaglia, M., Küry, S. & Wang, T., 16 Jun 2023, 37 p. (medRxiv : the preprint server for Health Sciences).

    Research output: Working paper / Preprint › Preprint