De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Hanneke A. Haijes(German Cancer Research Center), Peter M. van Hasselt(Utrecht University), Zdeněk Sedláček(Charles University), Jenny C. Taylor(Centre for Human Genetics), Christina Fagerberg(Odense University Hospital), Maria Kibæk(Odense University Hospital), Rolph Pfundt(University Medical Center Groningen), Alice Goldenberg(Université de Rouen Normandie), Clesson Turner(Walter Reed National Military Medical Center), Daphné Lehalle(CHU Dijon Bourgogne), Markéta Vlčková(Northwestern University), Sophie Patrier(Université de Rouen Normandie), William Reardon(Our Lady's Hospital), Ton A.J. van Essen(University Medical Center Groningen), Anna Lehman(University of British Columbia), Richard F.M.A. van Schaik(Utrecht University), Koen L.I. van Gassen(University Medical Center Utrecht), Julien Thévenon(Centre National de la Recherche Scientifique), Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Usha Kini(Oxford University Hospitals NHS Trust), Elizabeth M. McCormick(Children's Hospital of Philadelphia), Elena Lopez‐Rangel(University of British Columbia), Marni J. Falk(Children's Hospital of Philadelphia), Alistair T. Pagnamenta(University College London), Robert M. van Es(Utrecht University), H. T. Marc Timmers(University of Freiburg), Jennifer A. Sullivan(Duke Medical Center), Vassilis Ragoussis(Centre for Human Genetics), Donna M. Martin(University of Michigan), Nicola Brunetti‐Pierri(Federico II University Hospital), Miroslava Hančárová(Charles University), G. Bradley Schaefer(University of Nebraska at Omaha), Michele Pinelli(Radboud University Nijmegen), Ingrid M.B.H. van de Laar(Erasmus MC), Vandana Shashi(University of Virginia Medical Center), Håkon Håkonarson(Children's Hospital of Philadelphia), Darina Prchalová(Charles University), Coranne D. Tesselaar(Amphia Ziekenhuis), Dong Li(Children's Hospital of Philadelphia), Slavé Petrovski(The Royal Melbourne Hospital), Harmjan R. Vos(University Medical Center Utrecht), Holger Rehmann(Utrecht University), Markéta Havlovicová(Charles University), Maria J.E. Koster(German Cancer Research Center)
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