American Journal of Human Genetics, 105, 283-301 American Journal of Human Genetics, 105, 2, pp. 283-301 American Journal of Human Genetics, 105(2), 283-301. Cell Press American Journal of Human Genetics, 105(2), 283. Cell Press Haijes, H A, Koster, M J E, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, van de Laar, I M B H, Tesselaar, C D, 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 T, Kini, U, Vos, H R, van Es, R M, van Schaik, R F M A, van Essen, T A J, Kibaek, M, Taylor, J C, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D M, van Gassen, K L I, Pfundt, R, Falk, M J, McCormick, E M, Timmers, H T M & van Hasselt, P M 2019, ' De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia ', American Journal of Human Genetics, vol. 105, no. 2, pp. 283-301 . https://doi.org/10.1016/j.ajhg.2019.06.016 American Journal of Human Genetics, 105(2), 283-301. CELL PRESS