Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocío Rius(The University of Melbourne), Bertrand Isidor(Centre Hospitalier Universitaire de Nantes), Radu Harbuz(Centre Hospitalier Universitaire de Grenoble), Ruebena Dawes(Centre for Human Genetics), Tobias B. Haack(Technical University of Munich), Florence Amblard(Centre Hospitalier Universitaire de Grenoble), Chloe A Cunningham(The University of Melbourne), Lauren Dreyer(Government of Western Australia Department of Health), Giulia Barcia(Hôpital Necker-Enfants Malades), Nuria C. Bramswig(Düsseldorf University Hospital), Olivier Grunewald(Université de Pau et des Pays de l'Adour), Hyung Chul Kim(Centre for Human Genetics), François Lecoquierre(Inserm), Christel Depienne(Essen University Hospital), Alexander J. M. Blakes(University of Manchester), Meena Balasubramanian(Sheffield Children's NHS Foundation Trust), Yuyang Chen(Centre for Human Genetics), Annabelle Arlt(University of Bonn), Joachim De Jonghe(The Francis Crick Institute), Daniel G. Calame, Morad Ansari(Institute of Genetics and Cancer), Michael Field(Hunter Genetics), Frederik Braun(University of Duisburg-Essen), Anne Dieux, Alexander Hustinx(University of Bonn), Sarah Baer(Centre National de la Recherche Scientifique), Ian A. Glass(University of Washington), Jasmin Beygo(University of Duisburg-Essen), Elsa Balton(University of Washington Medical Center), Jamie Campbell(NHS Lothian), Ingo Helbig(Schneider Electric (France)), Jonathan A. Bernstein(Stanford Medicine), Charles Coutton(Centre National de la Recherche Scientifique), Benjamin Cogné(Centre National de la Recherche Scientifique), Hamza Hadj Abdallah(Center for Genomic Science), Katrina M. Dipple(Seattle Children's Hospital), Jane Horvath(University Hospital Münster), Daniel Buchzik(München Klinik Schwabing), Vanessa Geiger(Genetikum), Salima El Chehadeh(Inserm), Christina Austin-Tse(Broad Institute), Ana Beleza-Meireles(Guy's and St Thomas' NHS Foundation Trust), Haowei Du(Baylor College of Medicine), Javeria R. Alvi(University of Health Sciences Lahore), Lisa J. Ewans(Garvan Institute of Medical Research), Paul Gueguen(Université de Tours), Richard A. Gibbs(Baylor College of Medicine), Nitsuh Dargie(University of Washington), Pierre Blanc(Université de Pau et des Pays de l'Adour), Abhijit Dixit(Nottingham City Hospital)
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