ArticleNature2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
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Article in Nature, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10citing papers in PubMed
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Who cites it
10 citing papers in PubMed.
- AlphaGenome Atlas:medRxiv : the preprint server for health sciences · 2026Article
- Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.iScience · 2026Article
- Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.medRxiv : the preprint server for health sciences · 2026Article
- Past studies suggest potential therapies for newly discovered retinitis pigmentosa mutations in U6 and U4 snRNAs.RNA (New York, N.Y.) · 2026Article
- Combining multiplexed functional data to improve variant classification.Genome medicine · 2026Article
- Phenotype-Specific Recalibration of MAVE Data Enables Repurposing ofmedRxiv : the preprint server for health sciences · 2026Article
- Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Nature genetics · 2026Article
- Article
- Systematic analysis of snRNA genes reveals frequentmedRxiv : the preprint server for health sciences · 2025Article
- Biallelic variants inmedRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
- Update of
Authors and funding
44 authors.
Joachim De JongheThe Genome Function Laboratory, The Francis Crick Institute, London, UK.ORCID http://orcid.org/0000-0003-0584-8265
Hyung Chul KimBig Data Institute, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-5877-5456
Ayanfeoluwa AdedejiThe Genome Function Laboratory, The Francis Crick Institute, London, UK.ORCID http://orcid.org/0009-0007-5095-7539
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID http://orcid.org/0000-0001-5051-9714
Ruebena DawesBig Data Institute, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-2135-0117
Christina M KajbaThe Genome Function Laboratory, The Francis Crick Institute, London, UK.ORCID http://orcid.org/0000-0002-7896-0744
Benjamin CognéNantes Université, CHU de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.ORCID http://orcid.org/0000-0002-5503-6292
Yuyang ChenBig Data Institute, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-5593-6920
Alexander J M BlakesManchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID http://orcid.org/0000-0002-0260-7020
Cas SimonsCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-3147-8042
Rocio RiusCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-9871-3126
Javeria R AlviDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.
Florence AmblardService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Christina Austin-TseBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sarah BaerService de pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Elsa V BaltonDepartment of Medicine, University of Washington School of Medicine, Seattle, WA, USA.
Pierre BlancLaboratoire SeqOIA, Paris, France.
Daniel G CalameSection of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Charles CouttonService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Chloe A CunninghamVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0002-2525-1936
Nitsuh DargieDepartment of Medicine, University of Washington School of Medicine, Seattle, WA, USA.
Katrina M DippleDepartment of Pediatrics, University of Washington, Seattle, WA, USA.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0001-9052-1587
Salima El ChehadehService de Génétique Médicale, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.ORCID http://orcid.org/0000-0003-1613-6570
Ian GlassDepartment of Pediatrics, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0001-6762-8407
Joseph G GleesonRady Children's Institute for Genomic Medicine, San Diego, CA, USA.ORCID http://orcid.org/0000-0002-0889-9220
Olivier GrunewaldLaboratoire SeqOIA, Paris, France.
Paul GueguenLaboratoire SeqOIA, Paris, France.
Radu HarbuzService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Marie-Line JacquemontService de Génétique, CHRU de Tours, Tours, France.
Richard J LeventerVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Pierre MarijonLaboratoire SeqOIA, Paris, France.ORCID http://orcid.org/0000-0002-6694-6873
Olfa MessaoudBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-4547-0180
Tipu SultanDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.
Christel ThauvinCentre de référence maladies rares, Déficiences Intellectuelles de Causes Rares, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.ORCID http://orcid.org/0000-0002-4155-139X
Catherine Vincent-DelormeClinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France.
Elif Yilmaz GulecDepartment of Medical Genetics, Istanbul Medeniyet University Medical School, Istanbul, Turkey.
Julien ThevenonService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Rodrigo MendezCardiovascular Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-6465-452X
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID http://orcid.org/0000-0002-7212-9554
Caroline NavaLaboratoire SeqOIA, Paris, France.ORCID http://orcid.org/0000-0003-1272-0518
Nicola Whiffin *Big Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.ORCID http://orcid.org/0000-0003-1554-6594
Gregory M Findlay *The Genome Function Laboratory, The Francis Crick Institute, London, UK. greg.findlay@crick.ac.uk.ORCID http://orcid.org/0000-0002-7767-8608
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, de novo variants in an 18-nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder that is predicted to affect tens of thousands of individuals worldwide
Indexed as
Gene EditingGenes, DominantGenes, RecessiveMicrocephalyRNA, Small NuclearDwarfismFetal Growth RetardationHumansOsteochondrodysplasiasPhenotypeRNA SplicingSpliceosomesRNA, Small NuclearU4 small nuclear RNA
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.