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Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

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Title: Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
Authors: De Jonghe J; The Genome Function Laboratory, The Francis Crick Institute, London, UK., Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Adedeji A; The Genome Function Laboratory, The Francis Crick Institute, London, UK.; Department of Biochemical Engineering, University College London, London, UK., Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Kajba CM; The Genome Function Laboratory, The Francis Crick Institute, London, UK., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, Génétique médicale, Nantes, France., Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Blakes AJM; Manchester 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., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rius R; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Alvi JR; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan., Amblard F; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Baer S; Service de pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Balton EV; Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Blanc P; Laboratoire SeqOIA, Paris, France., Calame DG; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Coutton C; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Dargie N; Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Dipple KM; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM UMRS_1112, CRBS, Université de Strasbourg, Strasbourg, France., Glass I; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Gleeson JG; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA., Grunewald O; Laboratoire SeqOIA, Paris, France.; U1172-LilNCog-Lille Neuroscience and Cognition, CHU de Lille, Lille, France.; Laboratoire de Genopathies, CHU Lille, Lille, France., Gueguen P; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHRU de Tours, Tours, France.; Université de Tours, Imaging Brain and Neuropsychiatry iBraiN, Tours, France., Harbuz R; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France., Jacquemont ML; Service de Génétique, CHRU de Tours, Tours, France.; Université de Tours, Imaging Brain and Neuropsychiatry iBraiN, Tours, France.; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', FHU Genomeds, CHRU de Tours, Tours, France., Leventer RJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia., Marijon P; Laboratoire SeqOIA, Paris, France., Messaoud O; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA., Sultan T; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan., Thauvin C; Centre de référence maladies rares, Déficiences Intellectuelles de Causes Rares, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Vincent-Delorme C; Clinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France.; Consultation de génétique, CH Arras, Arras, France., Yilmaz Gulec E; Department of Medical Genetics, Istanbul Medeniyet University Medical School, Istanbul, Turkey.; Medical Genetics Clinic, Istanbul Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Turkey., Thevenon J; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Mendez R; Cardiovascular Medicine, Stanford University, Stanford, CA, USA., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Nava C; Laboratoire SeqOIA, Paris, France.; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Département de Génétique, Hôpital de la Pitié Salpêtrière, Paris, France., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. nwhiffin@well.ox.ac.uk., Findlay GM; The Genome Function Laboratory, The Francis Crick Institute, London, UK. greg.findlay@crick.ac.uk.
Source: Nature [Nature] 2026 Jun; Vol. 654 (8118), pp. 429-436. Date of Electronic Publication: 2026 Apr 08.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
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  Data: Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
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  Data: <searchLink fieldCode="AU" term="%22De+Jonghe+J%22">De Jonghe J</searchLink>; The Genome Function Laboratory, The Francis Crick Institute, London, UK.<br /><searchLink fieldCode="AU" term="%22Kim+HC%22">Kim HC</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Adedeji+A%22">Adedeji A</searchLink>; The Genome Function Laboratory, The Francis Crick Institute, London, UK.; Department of Biochemical Engineering, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Leitão+E%22">Leitão E</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Dawes+R%22">Dawes R</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Kajba+CM%22">Kajba CM</searchLink>; The Genome Function Laboratory, The Francis Crick Institute, London, UK.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Blakes+AJM%22">Blakes AJM</searchLink>; Manchester 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.<br /><searchLink fieldCode="AU" term="%22Simons+C%22">Simons C</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Rius+R%22">Rius R</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Alvi+JR%22">Alvi JR</searchLink>; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Amblard+F%22">Amblard F</searchLink>; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Austin-Tse+C%22">Austin-Tse C</searchLink>; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Baer+S%22">Baer S</searchLink>; Service de pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Balton+EV%22">Balton EV</searchLink>; Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Blanc+P%22">Blanc P</searchLink>; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Calame+DG%22">Calame DG</searchLink>; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Coutton+C%22">Coutton C</searchLink>; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Cunningham+CA%22">Cunningham CA</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Dargie+N%22">Dargie N</searchLink>; 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Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', FHU Genomeds, CHRU de Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Marijon+P%22">Marijon P</searchLink>; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Messaoud+O%22">Messaoud O</searchLink>; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sultan+T%22">Sultan T</searchLink>; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Thauvin+C%22">Thauvin C</searchLink>; Centre de référence maladies rares, Déficiences Intellectuelles de Causes Rares, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Vincent-Delorme+C%22">Vincent-Delorme C</searchLink>; Clinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France.; Consultation de génétique, CH Arras, Arras, France.<br /><searchLink fieldCode="AU" term="%22Yilmaz+Gulec+E%22">Yilmaz Gulec E</searchLink>; Department of Medical Genetics, Istanbul Medeniyet University Medical School, Istanbul, Turkey.; Medical Genetics Clinic, Istanbul Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Thevenon+J%22">Thevenon J</searchLink>; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; 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Big Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. nwhiffin@well.ox.ac.uk.<br /><searchLink fieldCode="AU" term="%22Findlay+GM%22">Findlay GM</searchLink>; The Genome Function Laboratory, The Francis Crick Institute, London, UK. greg.findlay@crick.ac.uk.
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            – D: 01
              M: 06
              Text: 2026 Jun
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1476-4687
          Numbering:
            – Type: volume
              Value: 654
            – Type: issue
              Value: 8118
          Titles:
            – TitleFull: Nature
              Type: main
ResultId 1