A NOVEL GENE CONTAINING A TRINUCLEOTIDE REPEAT THAT IS EXPANDED AND UNSTABLE ON HUNTINGTONS-DISEASE CHROMOSOMES by Macdonald, M, Ambrose, C, Duyao, M, Myers, R, Lin, C, Srinidhi, L, Barnes, G, Taylor, S, James, M, Groot, N, Macfarlane, H, Jenkins, B, Anderson, M, Wexler, N, Gusella, J, Bates, G, Baxendale, S, Hummerich, H, Kirby, S, North, M, Youngman, S, Mott, R, Zehetner, G, Sedlacek, Z, Poustka, A

De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia by Haijes, H, Koster, M, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G, Lehman, A, Van De Laar, I, Tesselaar, C, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A, Kini, U, Vos, H, Van Es, R, Van Schaik, R, Van Essen, T, Kibaek, M, Taylor, J, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D, Van Gassen, K, Pfundt, R, Falk, M, McCormick, E, Timmers, H, Van Hasselt, P