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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, 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
FullText Text:
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DbLabel: MEDLINE Ultimate
An: 42322193
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
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  Data: <searchLink fieldCode="AU" term="%22Matalon+DR%22">Matalon DR</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA. Electronic address: matalon@stanford.edu.<br /><searchLink fieldCode="AU" term="%22Duker+AL%22">Duker AL</searchLink>; Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Wilmington, DE.<br /><searchLink fieldCode="AU" term="%22Arriaga+TM%22">Arriaga TM</searchLink>; Department of Genetics, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Russell+K%22">Russell K</searchLink>; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Mendez+HR%22">Mendez HR</searchLink>; Department of Medicine, Stanford University, Standford, CA.<br /><searchLink fieldCode="AU" term="%22Bonner+DE%22">Bonner DE</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Harley+ME%22">Harley ME</searchLink>; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pais+L%22">Pais L</searchLink>; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22DiTroia+S%22">DiTroia S</searchLink>; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22O'Leary+M%22">O'Leary M</searchLink>; Broad Institute Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Cassini+T%22">Cassini T</searchLink>; Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Ezell+K%22">Ezell K</searchLink>; Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Niehaus+AD%22">Niehaus AD</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Kaplan+J%22">Kaplan J</searchLink>; Cleveland Clinic Foundation, Cleveland, OH.<br /><searchLink fieldCode="AU" term="%22Wargowski+DS%22">Wargowski DS</searchLink>; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI.<br /><searchLink fieldCode="AU" term="%22Smid+CJ%22">Smid CJ</searchLink>; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI.<br /><searchLink fieldCode="AU" term="%22Longenecker+ED%22">Longenecker ED</searchLink>; Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Wilmington, DE.<br /><searchLink fieldCode="AU" term="%22Rodriguez+Barreto+AM%22">Rodriguez Barreto AM</searchLink>; Division of clinical genetics, Nicklaus Children's Hospital, Miami, FL.<br /><searchLink fieldCode="AU" term="%22Miller+DE%22">Miller DE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Keefe+AC%22">Keefe AC</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA.<br /><searchLink fieldCode="AU" term="%22Calderwood+L%22">Calderwood L</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Enns+GM%22">Enns GM</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Tekin+M%22">Tekin M</searchLink>; John T. 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Lurie Children's Hospital of Chicago, Chicago, IL.<br /><searchLink fieldCode="AU" term="%22Davis+EE%22">Davis EE</searchLink>; Stanley Manne Children's Research Institute, Ann & Robert H. 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Department of Medicine, Surgery and Neurosciences, University of Siena, Italy and Clinical Pathology Unit, University Hospital of Siena, Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Lam+W%22">Lam W</searchLink>; South East of Scotland Clinical Genetics Service, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Campbell+J%22">Campbell J</searchLink>; Clinical Genomics Service, Leeds Teaching Hospitals National Health Service Trust, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Homfray+T%22">Homfray T</searchLink>; Medical Genetics Service, St George's University Hospital and Royal Brompton Hospital London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, India.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; Department of Paediatrics, McMaster University Medical Center, Hamilton, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Chaudhari+BP%22">Chaudhari BP</searchLink>; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Truxal+K%22">Truxal K</searchLink>; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Bernstein+JA%22">Bernstein JA</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Montgomery+SB%22">Montgomery SB</searchLink>; Department of Genetics, Stanford University, Stanford, CA; Department of Biomedical Data Science, Stanford University, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Wheeler+MT%22">Wheeler MT</searchLink>; Center for Inherited Cardiovascular Disease, Stanford Medicine, Stanford, CA.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jackson+AP%22">Jackson AP</searchLink>; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Campbell+IM%22">Campbell IM</searchLink>; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Robertson+N%22">Robertson N</searchLink>; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom. 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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Jun 19, pp. 102633. <i>Date of Electronic Publication: </i>2026 Jun 19.
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      – TitleFull: RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
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          Dates:
            – D: 19
              M: 06
              Text: 2026 Jun 19
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
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