Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene(University of Cambridge), Kathleen Freson(KU Leuven), Joanna Jarvis(Birmingham Women's Hospital), Michael O’Donoghue(Nottingham University Hospitals NHS Trust), Pradeep Vasudevan(Leicester Royal Infirmary), Rolph Pfundt(University Medical Center Groningen), Irene Valenzuela(Vall d'Hebron Institut de Recerca), Irene Madrigal(Instituto de Salud Carlos III), Kāri Stefánsson(deCODE Genetics (Iceland)), Rachel Schot(Erasmus MC), Mohnish Suri(Nottingham University Hospitals NHS Trust), Jonathan Lees(University of Bristol), Pablo Lapunzina(Hospital Universitario La Paz), Giles Atton(University Hospital Southampton NHS Foundation Trust), Nicola Foulds(Wessex Regional Genetics Laboratory), Patrick Rump(University Medical Center Groningen), Robin Wijngaard(Radboud University Nijmegen), Tahsin Stefan Barakat(Erasmus MC), Andrea Sariego Jamardo(Marqués de Valdecilla University Hospital), Shane McKee(Belfast City Hospital), Kathleen Stirrups(Queen Mary University of London), Elena González Alguacil(Instituto de Salud Carlos III), Marc Engelen(Academic Medical Center), Beatriz Morte(Instituto de Salud Carlos III), Marta Sevilla Porras(Universitat Pompeu Fabra), I. Arroyo Carrera(Hospital San Pedro de Alcántara), Patrick Sulem(Gladstone Institutes), Nelmar Valentina Ortiz‐Cabrera(Madrid Institute for Advanced Studies), Dídac Casas‐Alba(Hospital Sant Joan de Déu Barcelona), Anna Duat Rodríguez(Instituto de Salud Carlos III), Sónia Pascoal(University of Cambridge), Eduardo F. Tizzano(Vall d'Hebron Institut de Recerca), Brynjar Ö. Jensson(deCODE Genetics (Iceland)), Ãngel Carracedo(Universidade de Santiago de Compostela), Barbara Fernández Garoz(Hospital Infantil Universitario Niño Jesús), Esther Molina(Fundación Progreso y Salud), Ana Isabel Vega Pajares(Instituto de Investigación Marqués de Valdecilla), Frank Sleutels(Erasmus MC), Sarina G. Kant(Erasmus MC), Luis A. Pérez‐Jurado(Universitat Pompeu Fabra), Clara D.M. van Karnebeek(University of British Columbia), Deirdre E. Donnelly(University of Ulster), Andrea Katrinecz(University of Cambridge), Natasha P. Morgan(University of Cambridge), Antonio F. Martinez-Monseny(Hospital Sant Joan de Déu Barcelona), Marta Codina‐Solà(Vall d'Hebron Institut de Recerca), Emma Hales(University of Cambridge), Koenraad De Wispelaere(Icahn School of Medicine at Mount Sinai)
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