A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

by Altmüller, J., Campbell, S.E, Gordon, L.B, Kubisch, C., Lessel, D., Rading, K., Thiele, H.
Published 2022

RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation

by Altmüller, J., Bozet, M., Brenzel, A., Döpper, H., Kanber, D., Kilpert, F., Lohmann, D., Pommerenke, C., Steenpass, L., Woestefeld, J.
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