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

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Bibliographic Details
Title: RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Authors: Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA. Electronic address: matalon@stanford.edu., Duker AL; Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Wilmington, DE., Arriaga TM; Department of Genetics, Stanford University, Stanford, CA., Russell K; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Mendez HR; Department of Medicine, Stanford University, Standford, CA., Bonner DE; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA., Harley ME; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Singer-Berk M; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Wojcik MH; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Pais L; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., DiTroia S; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., O'Leary M; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Cassini T; Vanderbilt University Medical Center, Nashville, TN., Ezell K; Vanderbilt University Medical Center, Nashville, TN., Niehaus AD; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA., Kaplan J; Cleveland Clinic Foundation, Cleveland, OH., Wargowski DS; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI., Smid CJ; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI., Longenecker ED; Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Wilmington, DE., Rodriguez Barreto AM; Division of clinical genetics, Nicklaus Children's Hospital, Miami, FL., 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., Keefe AC; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA., Calderwood L; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA., Enns GM; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA., Tekin M; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL., Bivona SA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL., Vora NL; Obstetrics and Gynecology; Division of Maternal Fetal Medicine, UNC Chapel Hill School of Medicine, Chapel Hill, NC., Gilmore KL; Obstetrics and Gynecology; Division of Maternal Fetal Medicine, UNC Chapel Hill School of Medicine, Chapel Hill, NC., Khan TN; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL., Wang AW; ORIC Pharmaceuticals, South San Francisco, CA., 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 Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Al Abdi 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, Riyadh, Saudi Arabia., 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, Alexandria Egypt., Clarke A; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, Wales, United Kingdom., Fletcher E; Department of Clinical Genetics, Centre for Genomic and Experimental Medicine, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom., Keng WT; Department of Genetics, Hospital Kuala Lumpur, 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, Kelaniya, Sri Lanka., Haniffa M; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Mari F; Department of Medicine, Surgery and Neurosciences, University of Siena, Italy and Clinical Pathology Unit, University Hospital of Siena, Siena, Italy., Lam W; South East of Scotland Clinical Genetics Service, Edinburgh, United Kingdom., Campbell J; Clinical Genomics Service, Leeds Teaching Hospitals National Health Service Trust, Leeds, United Kingdom., Homfray T; Medical Genetics Service, St George's University Hospital and Royal Brompton Hospital London, London, United Kingdom., 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; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Truxal K; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University, Columbus, OH, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford University, Stanford, CA., Montgomery SB; Department of Genetics, Stanford University, Stanford, CA; Department of Biomedical Data Science, Stanford University, Stanford, CA., Wheeler MT; Center for Inherited Cardiovascular Disease, Stanford Medicine, Stanford, CA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia., O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Jackson AP; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Campbell IM; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Ganesh VS; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Department of Neurology, Brigham and Women's Hospital, Boston, MA., Robertson N; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom. 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; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA; 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