A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

by Biderman Waberski, M., Brancati, F., De Luca, C., Goueli, C., Harris, D.J, Italian Undiagnosed Diseases Network, Laboy Cintron, D., McDonald, M., Mefford, H.C, Monaghan, K.G, Muir, A.M, Prada, C.E, Santiago-Sim, T., Scott, A., Stottmann, R., Wentzensen, I.M
Published 2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

by Abdullah, U., Altmüller, J., Asif, M., Brancati, F., Budde, B.S, De Luca, C., Fleischer, N., Hochscherf, J., Höning, S., Hsieh, T.-C, Hurst, A.C.E, Hussain, M.S, Italian Undiagnosed Diseases Network, Jose, J., Kaygusuz, E., Krawitz, P., Lindenblatt, D., Motameny, S., Nickelsen, A., Niefind, K., Nienberg, C., Noegel, A.A, Nürnberg, P., Pais, L., Paola Fortugno, Rudy, N.L, Samra, N.N, Savatt, J.M, Segal, I., Shinawi, M., Thiele, H., Tinschert, S., Wagle, P., White, S.M
Published 2022