Haijes, Hanneke A.; Koster, Maria J.E.; Rehmann, Holger; Li, Dong; Hakonarson, H.; Cappuccio, Gerarda; Hancarova, Miroslava; Lehalle, Daphne; Reardon, Willie; Schaefer, G. Bradley; Lehman, Anna; van de Laar, Ingrid M.B.H.; Tesselaar, Coranne D.; Turner, Clesson; Goldenberg, A.; Patrier, Sophie; Thevenon, Julien; Pinelli, Michele; Brunetti-Pierri, Nicola; Prchalová, Darina; Havlovicová, Markéta; Vlckova, Markéta; Sedláček, Zdeněk; Lopez, E.; Ragoussis, Vassilis; Pagnamenta, Alistair T.; Kini, Usha; Vos, Harmjan R.; van Es, Robert M.; van Schaik, Richard F.M.A.; van Essen, Ton A.J.; Kibaek, M.; Taylor, Jenny C.; Sullivan, Jennifer; Shashi, Vandana; Petrovski, S.; Fagerberg, Christina; Martin, Donna M.; van Gassen, Koen L.I.; Pfundt, R.; Falk, Marni J.; McCormick, Elizabeth M.; Timmers, H. T.Marc; van Hasselt, Peter M.
(Cell Press, 2019-08-01)
The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, ...