RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

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Title: RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Authors: Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford University, CA, USA. Electronic address: matalon@stanford.edu., Duker AL; Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Wilmington, DE, USA., Arriaga TM; Department of Genetics, Stanford University, CA, USA., Russell K; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Mendez HR; Department of Medicine, Stanford University, CA, USA., Bonner DE; Division of Medical Genetics, Department of Pediatrics, Stanford University, CA, USA., Harley ME; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Singer-Berk M; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wojcik MH; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Pais L; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Leary M; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cassini T; Vanderbilt University Medical Center, Nashville, TN, USA., Ezell K; Vanderbilt University Medical Center, Nashville, TN, USA., Niehaus AD; Division of Medical Genetics, Department of Pediatrics, Stanford University, CA, USA., Kaplan J; Cleveland Clinic Foundation, Cleveland, OH, USA., Wargowski DS; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Smid CJ; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Longenecker ED; Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Wilmington, DE, USA., Rodriguez Barreto AM; Division of clinical genetics, Nicklaus Children's Hospital, Miami, Fl, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics; Department of Laboratory Medicine and Pathology; Brotman Baty Institute for Precision Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Keefe AC; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Calderwood L; Division of Medical Genetics, Department of Pediatrics, Stanford University, CA, USA., Enns GM; Division of Medical Genetics, Department of Pediatrics, Stanford University, CA, USA., Tekin M; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Fl, USA., Bivona SA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Fl, USA., Vora NL; Obstetrics and Gynecology; Division of Maternal Fetal Medicine, UNC Chapel Hill School of Medicine, Chapel Hill, NC, USA., Gilmore KL; Obstetrics and Gynecology; Division of Maternal Fetal Medicine, UNC Chapel Hill School of Medicine, Chapel Hill, NC, USA., Khan TN; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Wang AW; ORIC Pharmaceuticals., Khan S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Maddirevula S; Precision Medicine Laboratory Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abuyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkhalifi S; Newborn Screening program, Ministry of Health, Eastern Province, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhumaidi ZA; Newborn Screening program, Ministry of Health, Eastern Province, Saudi Arabia., Nadeef S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Hashem AM; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bakur K; Lifera Omics., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Abdalla E; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt., Clarke A; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK., Fletcher E; Department of Clinical Genetics, Centre for Genomic and Experimental Medicine, Western General Hospital, Crewe Road South, Edinburgh, UK., Keng WT; Department of Genetics, Hospital Kuala Lumpur, Malaysia., Ousager LB; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., de Silva DC; Department of Physiology, Faculty of Medicine, University of Kelaniya, Sri Lanka., Haniffa M; Department of Genetics, Hospital Kuala Lumpur, Malaysia., Mari F; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy and Clinical Pathology Unit, University Hospital of Siena, Italy., Lam W; South East of Scotland Clinical Genetics Service, Edinburgh, UK., Campbell J; Clinical Genomics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Homfray T; Medical Genetics Service, St George's University Hospital and Royal Brompton Hospital London, London, UK., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, India., Li C; Department of Paediatrics, McMaster University Medical Center, Hamilton, ON, Canada., Chaudhari BP; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Truxal K; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford University, Stanford, CA, USA., Montgomery SB; Department of Genetics, Stanford University, CA, USA; Department of Biomedical Data Science, Stanford University, CA, USA., Wheeler MT; Center for Inherited Cardiovascular Disease, Stanford Medicine, CA, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Lifera Omics., O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Jackson AP; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Campbell IM; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ganesh VS; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., Robertson N; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. Electronic address: Nic.Robertson@ed.ac.uk., Lemire G; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: glemiret@broadinstitute.org.
Corporate Authors: Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102633. Date of Electronic Publication: 2026 Jun 19.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2026.102633