Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocío Rius(The University of Melbourne), M. O'Leary, James R. Lupski(Baylor College of Medicine), Abhijit Dixit(Nottingham City Hospital), Radu Harbuz(Centre Hospitalier Universitaire de Grenoble), Marie‐Line Jacquemont(Assistance Publique – Hôpitaux de Paris), 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), Olivier Grunewald(Université de Pau et des Pays de l'Adour), 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), Joachim De Jonghe(The Francis Crick Institute), Caroline Nava(Centre National de la Recherche Scientifique), Daniel G. Calame, Charles Coutton(Centre National de la Recherche Scientifique), Michael Field(Hunter Genetics), Richard J. Leventer(Royal Children's Hospital), Urania Kotzaeridou(Heidelberg University), Pierre Marijon(Centre National de la Recherche Scientifique), Paul Guéguen(Université de Tours), Olfa Messaoud(Broad Institute), Anne Dieux, Rodrigo Mendez(Stanford University), Richard A. Gibbs(Baylor College of Medicine), Javeria Raza Alvi(University of Health Sciences Lahore), Salima El Chehadeh(Inserm), Sarah Baer(Centre National de la Recherche Scientifique), Pierre Blanc, Ian A. Glass(University of Washington), Haowei Du(Baylor College of Medicine), Christina Austin‐Tse(Broad Institute), Anne O’Donnell‐Luria(Broad Institute), Elsa Balton(University of Washington Medical Center), Jonathan A. Bernstein(Stanford Medicine), Benjamin Cogné(Centre National de la Recherche Scientifique), Tobias B. Haack, Hamza Hadj Abdallah(Center for Genomic Science), Katrina M. Dipple(Seattle Children's Hospital), Georg Christoph Korenke(Klinikum Oldenburg), Bertrand Isidor(Centre Hospitalier Universitaire de Nantes), Daniel Buchzik(München Klinik Schwabing), Vanessa Geiger(Genetikum), Nitsuh Dargie(University of Washington), Mevyn Nizard(Hôpital Necker-Enfants Malades), Médéric Jeanne(Boston Children's Hospital)
medRxiv
August 16, 2025
Cited by 5


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