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Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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Title: Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
Authors: Cuinat S; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France. Electronic address: silvestre.cuinat@inserm.fr., Cormier-Daire V; Service de médecine génomique des maladies rares, Centre de Référence pour les Maladies Osseuses Constitutionnelles, Hôpital Necker - Enfants Malades, APHP, Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France., Rosain J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, France; Université Paris-Cité, Paris, France; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA., Huber C; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France., Ferriere E; Service de néphrologie et transplantation rénale adulte, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Fournier B; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Cheminant M; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France., Castelle M; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Bastard P; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, France; Université Paris-Cité, Paris, France; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France., Noel N; Service de Médecine Interne et Immunologie, Hôpital Kremlin-Bicêtre, APHP, Paris, France; Institut Pasteur, Université Paris Sud, Paris, France., Bourdic K; Service de Médecine Interne et Immunologie, Hôpital Kremlin-Bicêtre, APHP, Paris, France; Institut Pasteur, Université Paris Sud, Paris, France., Picard C; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Université Paris-Cité, Paris, France; Centre d'Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Moshous D; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Courteille V; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Mahlaoui N; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Bustamante J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, France; Université Paris-Cité, Paris, France; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA., Collobert G; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Mignot C; Département de Génétique, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; Département de Génétique, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France; Laboratoire SeqOIA, Paris, France., Drunat S; Département de Génétique, Hôpital Robert-Debré, APHP, Paris, France; Laboratoire SeqOIA, Paris, France; NeuroDiderot, Inserm, Université Paris Cité, Paris, France., Rondeau S; Service de médecine génomique des maladies rares, Centre de Référence pour les Maladies Osseuses Constitutionnelles, Hôpital Necker - Enfants Malades, APHP, Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Laboratoire SeqOIA, Paris, France., Rabec A; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France., Besson A; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France., Chatron N; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Lesca G; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Laurent A; Service de néphrologie, rhumatologie et dermatologie pédiatriques, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Lyon, France., Mortreux J; GCS AURAGEN, Lyon, France., Dancer MS; Laboratoire de Génétique, Eurofins Biomnis, Lyon, France., Dejeans G; Service de médecine interne, Assistance publique hôpitaux de Marseille (AP-HM), hôpital Nord, Marseille, France., Poggi C; Service de médecine interne, Assistance publique hôpitaux de Marseille (AP-HM), hôpital Nord, Marseille, France., Stoeva R; Département de génétique, Centre Hospitalier Le Mans, Le Mans, France., Lecordier A; Département de génétique, Centre Hospitalier Le Mans, Le Mans, France., Poirsier C; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France., Dieux A; Clinique de génétique Guy Fontaine, F-59000, CHU Lille, Lille, France., Sarrot-Reynauld F; Service de médecine interne, CHU Grenoble Alpes, Grenoble, France., Laudier B; Service de Génétique Clinique, CHU d'Orléans, Orléans, France., Le Besnerais M; Service de Médecine Interne, CHU de Rouen, Rouen, France., Guerrot AM; University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France; Normandy University, UNIROUEN, INSERM U1245, Rouen, France., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Cogne B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France., Julia S; Service de Génétique Médicale, CHU Purpan, Toulouse, France., Bouri S; Service de Génétique Médicale, CHU Purpan, Toulouse, France., Fusaro M; Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), INSERM, CNRS, Toulouse III Paul Sabatier University, Toulouse, France; Laboratoire d'Immunologie, Institut Fédératif de Biologie, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; GCS AURAGEN, Lyon, France., Willems M; Service de Génétique Médicale, Centre de Référence des Maladies Osseuses Constitutionnelles, CHU de Montpellier, Montpellier, France; Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, Montpellier, France., Elenga N; Service de Pédiatrie, Centre Hospitalier de Cayenne, Cayenne, France; University of French Guinea, Faculty of Health, Campus De Trou Biran, Cayenne, France., Dobian SR; Service de Radiologie Centre Hospitalier de Cayenne, Cayenne, France., Diop M; Unité de génétique, Centre Hospitalier de Cayenne, Cayenne, France., Pacaud S; Service de pédiatrie, Centre Hospitalier Universitaire de Martinique, Hôpital Pierre Zobda-Quitman, Fort-de-France, Martinique, France., Dichamp C; Service de pédiatrie, Centre Hospitalier Universitaire de Martinique, Hôpital Pierre Zobda-Quitman, Fort-de-France, Martinique, France., Sarrazin E; Centre de Référence Caribéen de Maladies Neuromusculaires Rares, CERCA, CHU de Martinique, Fort de France, France., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Tizzano EF; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Marti IC; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain., Nalda AM; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Felipe-Rucián A; Department of Paediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain., Gómez-Andres D; Department of Paediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain., Codina-Solà M; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernandez P; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain., Riviere JG; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain., Soler-Palacín P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain., Fernández-Jaén A; Department of Paediatric Neurology, Hospital Quirónsalud, School of Medicine, Universidad Europea de Madrid, Cell Biology Department, Madrid, Spain; School of Biological Sciences, Universidad Complutense de Madrid, Madrid, Spain., Carrión-Mera T; Departamento de Pediatría, Hospital Universitari Son Espases, Palma de Mallorca, Spain., Borgmann I; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany., Johnsen C; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany., Schlotawa L; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany., Kettwig M; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany., Hoffmann J; Center for Human Genetics, Tuebingen, Germany., Lex C; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Cardiology and Intensive Care Medicine, University Medical Center Göttingen, Göttingen, Germany., Speckmann C; Department of Pediatrics Hematology, Oncology and Stem Cell Transplantation, Children's Hospital, Medical Center -University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Institute for Immunodeficiency, Medical Center -University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hanover, Germany., Wetzke M; Department of Pediatrics, Pediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany., Paul VG; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany., Vockel M; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany., Horvath J; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany., Busche A; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany., Hirschberger N; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, Munich, Germany., Shoukier M; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, Munich, Germany., Filges I; Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel and University of Basel, Basel, Switzerland., De Geyter J; Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel and University of Basel, Basel, Switzerland., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Borg I; Pathology Department, Section of Clinical Genetics, Mater Dei Hospital, Msida, Malta; Pathology Department, Faculty of Medicine and Surgery, The Medical School, University of Malta, Msida, Malta., Kłosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, University Clinical Center, Gdansk, Poland., Głuszkiewicz L; Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, University Clinical Center, Gdansk, Poland., Allen S; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Foley PA; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland., McDonnell C; Department of Paediatric Endocrinology & Diabetes, Children's Health Ireland, Dublin, Ireland; Department of Paediatrics, School of Medicine, University of Dublin, Trinity College, Dublin, Ireland., Sansović I; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Odak L; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Vulin K; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Jensen JM; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark., Pedersen IS; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark., Ernst A; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark., Taşdelen E; Department of Medical Genetics, Etlik City Hospital, Ankara, Turkey., Kılıç M; Metabolism Unit, Department of Pediatrics, Ankara Etlik City Hospital, Ankara, Turkey., Kılıç E; Genetics Unit, Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey., Altunoğlu U; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey., Tatlı B; Istanbul Pediatric Neurology Clinic, Istanbul, Turkey., Akman B; Rare and Undiagnosed Diseases Group, İzmir Biomedicine and Genome Center, Izmir, Turkey., Yıldırım RN; Rare and Undiagnosed Diseases Group, İzmir Biomedicine and Genome Center, Izmir, Turkey., Gürsoy S; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Bozkaya ÖG; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey., Niceta M; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Severi G; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Capelli M; Neonatal Intensive Care Unit and Neonatology, AUSL Romagna, Ospedale Infermi, Rimini, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy., Onesimo R; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Carli D; Department of Medical Sciences, University of Torino, Turin, Italy; Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Mussa A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Citterio A; Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy., Graziano C; Medical Genetics Unit, AUSL Romagna, Cesena, Italy., Donati I; Medical Genetics Unit, AUSL Romagna, Cesena, Italy., Accadia M; Medical Genetics Service, Hospital Cardinale G. Panico, Tricase, Italy., Bisceglia L; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Bruselles A; Molecular Medicine and Oncology, Istituto Superiore di Sanità, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Barragán-Arévalo T; Department of Medical Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico., Boone PM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America., Nelson RW; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America., Cabet S; Service d'imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; CNRS, Inserm, Physiospathologie et Génétique du Neurone et du Muscle, Institut NeuroMyoGène, Université de Lyon, Lyon, France., Arlt A; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany; Institute for Medical Biometry and Statistics, Marburg University, Marburg, Hesse, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany., Amiel J; Service de Médecine Génomique des Maladies Rares, CRMR Anomalies du Développement, Hôpital Necker-Enfants Malades, AP-HP, Paris, France; Genetics of Developmental Disorder Lab, INSERM UMR-1163, Université Paris Cité, Institut Imagine, Paris, France., Consortium A; GCS AURAGEN, Lyon, France., Palafoll IV; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Suarez F; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Department of Adult Hematology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Delous M; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France., Mazoyer S; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France. Electronic address: sylvie.mazoyer@inserm.fr., Edery P; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France. Electronic address: charles-patrick.edery@chu-lyon.fr., Putoux A; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France. Electronic address: audrey.putoux@chu-lyon.fr.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102632. 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
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  Data: Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
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  Data: <searchLink fieldCode="AU" term="%22Cuinat+S%22">Cuinat S</searchLink>; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France. Electronic address: silvestre.cuinat@inserm.fr.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Service de médecine génomique des maladies rares, Centre de Référence pour les Maladies Osseuses Constitutionnelles, Hôpital Necker - Enfants Malades, APHP, Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rosain+J%22">Rosain J</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, France; Université Paris-Cité, Paris, France; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Huber+C%22">Huber C</searchLink>; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ferriere+E%22">Ferriere E</searchLink>; Service de néphrologie et transplantation rénale adulte, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fournier+B%22">Fournier B</searchLink>; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Cheminant+M%22">Cheminant M</searchLink>; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Castelle+M%22">Castelle M</searchLink>; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Bastard+P%22">Bastard P</searchLink>; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, France; Université Paris-Cité, Paris, France; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Noel+N%22">Noel N</searchLink>; Service de Médecine Interne et Immunologie, Hôpital Kremlin-Bicêtre, APHP, Paris, France; Institut Pasteur, Université Paris Sud, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bourdic+K%22">Bourdic K</searchLink>; Service de Médecine Interne et Immunologie, Hôpital Kremlin-Bicêtre, APHP, Paris, France; Institut Pasteur, Université Paris Sud, Paris, France.<br /><searchLink fieldCode="AU" term="%22Picard+C%22">Picard C</searchLink>; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Université Paris-Cité, Paris, France; Centre d'Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Moshous+D%22">Moshous D</searchLink>; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Courteille+V%22">Courteille V</searchLink>; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Mahlaoui+N%22">Mahlaoui N</searchLink>; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Bustamante+J%22">Bustamante J</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, France; Université Paris-Cité, Paris, France; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Collobert+G%22">Collobert G</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Département de Génétique, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Département de Génétique, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Drunat+S%22">Drunat S</searchLink>; Département de Génétique, Hôpital Robert-Debré, APHP, Paris, France; Laboratoire SeqOIA, Paris, France; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rondeau+S%22">Rondeau S</searchLink>; Service de médecine génomique des maladies rares, Centre de Référence pour les Maladies Osseuses Constitutionnelles, Hôpital Necker - Enfants Malades, APHP, Paris, France; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rabec+A%22">Rabec A</searchLink>; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France.<br /><searchLink fieldCode="AU" term="%22Besson+A%22">Besson A</searchLink>; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Laurent+A%22">Laurent A</searchLink>; Service de néphrologie, rhumatologie et dermatologie pédiatriques, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mortreux+J%22">Mortreux J</searchLink>; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Dancer+MS%22">Dancer MS</searchLink>; Laboratoire de Génétique, Eurofins Biomnis, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Dejeans+G%22">Dejeans G</searchLink>; Service de médecine interne, Assistance publique hôpitaux de Marseille (AP-HM), hôpital Nord, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Poggi+C%22">Poggi C</searchLink>; Service de médecine interne, Assistance publique hôpitaux de Marseille (AP-HM), hôpital Nord, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Stoeva+R%22">Stoeva R</searchLink>; Département de génétique, Centre Hospitalier Le Mans, Le Mans, France.<br /><searchLink fieldCode="AU" term="%22Lecordier+A%22">Lecordier A</searchLink>; Département de génétique, Centre Hospitalier Le Mans, Le Mans, France.<br /><searchLink fieldCode="AU" term="%22Poirsier+C%22">Poirsier C</searchLink>; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Dieux+A%22">Dieux A</searchLink>; Clinique de génétique Guy Fontaine, F-59000, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Sarrot-Reynauld+F%22">Sarrot-Reynauld F</searchLink>; Service de médecine interne, CHU Grenoble Alpes, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Laudier+B%22">Laudier B</searchLink>; Service de Génétique Clinique, CHU d'Orléans, Orléans, France.<br /><searchLink fieldCode="AU" term="%22Le+Besnerais+M%22">Le Besnerais M</searchLink>; Service de Médecine Interne, CHU de Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Guerrot+AM%22">Guerrot AM</searchLink>; University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France; Normandy University, UNIROUEN, INSERM U1245, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Julia+S%22">Julia S</searchLink>; Service de Génétique Médicale, CHU Purpan, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Bouri+S%22">Bouri S</searchLink>; Service de Génétique Médicale, CHU Purpan, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Fusaro+M%22">Fusaro M</searchLink>; Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), INSERM, CNRS, Toulouse III Paul Sabatier University, Toulouse, France; Laboratoire d'Immunologie, Institut Fédératif de Biologie, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Willems+M%22">Willems M</searchLink>; Service de Génétique Médicale, Centre de Référence des Maladies Osseuses Constitutionnelles, CHU de Montpellier, Montpellier, France; Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Elenga+N%22">Elenga N</searchLink>; Service de Pédiatrie, Centre Hospitalier de Cayenne, Cayenne, France; University of French Guinea, Faculty of Health, Campus De Trou Biran, Cayenne, France.<br /><searchLink fieldCode="AU" term="%22Dobian+SR%22">Dobian SR</searchLink>; Service de Radiologie Centre Hospitalier de Cayenne, Cayenne, France.<br /><searchLink fieldCode="AU" term="%22Diop+M%22">Diop M</searchLink>; Unité de génétique, Centre Hospitalier de Cayenne, Cayenne, France.<br /><searchLink fieldCode="AU" term="%22Pacaud+S%22">Pacaud S</searchLink>; Service de pédiatrie, Centre Hospitalier Universitaire de Martinique, Hôpital Pierre Zobda-Quitman, Fort-de-France, Martinique, France.<br /><searchLink fieldCode="AU" term="%22Dichamp+C%22">Dichamp C</searchLink>; Service de pédiatrie, Centre Hospitalier Universitaire de Martinique, Hôpital Pierre Zobda-Quitman, Fort-de-France, Martinique, France.<br /><searchLink fieldCode="AU" term="%22Sarrazin+E%22">Sarrazin E</searchLink>; Centre de Référence Caribéen de Maladies Neuromusculaires Rares, CERCA, CHU de Martinique, Fort de France, France.<br /><searchLink fieldCode="AU" term="%22Lasa-Aranzasti+A%22">Lasa-Aranzasti A</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Tizzano+EF%22">Tizzano EF</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Marti+IC%22">Marti IC</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Nalda+AM%22">Nalda AM</searchLink>; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Felipe-Rucián+A%22">Felipe-Rucián A</searchLink>; Department of Paediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Gómez-Andres+D%22">Gómez-Andres D</searchLink>; Department of Paediatric Neurology, Vall d'Hebron University Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Codina-Solà+M%22">Codina-Solà M</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Fernandez+P%22">Fernandez P</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Riviere+JG%22">Riviere JG</searchLink>; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Soler-Palacín+P%22">Soler-Palacín P</searchLink>; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain; Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Jaén+A%22">Fernández-Jaén A</searchLink>; Department of Paediatric Neurology, Hospital Quirónsalud, School of Medicine, Universidad Europea de Madrid, Cell Biology Department, Madrid, Spain; School of Biological Sciences, Universidad Complutense de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Carrión-Mera+T%22">Carrión-Mera T</searchLink>; Departamento de Pediatría, Hospital Universitari Son Espases, Palma de Mallorca, Spain.<br /><searchLink fieldCode="AU" term="%22Borgmann+I%22">Borgmann I</searchLink>; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Johnsen+C%22">Johnsen C</searchLink>; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Schlotawa+L%22">Schlotawa L</searchLink>; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kettwig+M%22">Kettwig M</searchLink>; Department of Pediatrics and Adolescent Medicine, Göttingen University Medical Center, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffmann+J%22">Hoffmann J</searchLink>; Center for Human Genetics, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Lex+C%22">Lex C</searchLink>; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Cardiology and Intensive Care Medicine, University Medical Center Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Speckmann+C%22">Speckmann C</searchLink>; Department of Pediatrics Hematology, Oncology and Stem Cell Transplantation, Children's Hospital, Medical Center -University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Institute for Immunodeficiency, Medical Center -University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22von+Hardenberg+S%22">von Hardenberg S</searchLink>; Department of Human Genetics, Hannover Medical School, Hanover, Germany.<br /><searchLink fieldCode="AU" term="%22Wetzke+M%22">Wetzke M</searchLink>; Department of Pediatrics, Pediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Paul+VG%22">Paul VG</searchLink>; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Vockel+M%22">Vockel M</searchLink>; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Horvath+J%22">Horvath J</searchLink>; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Busche+A%22">Busche A</searchLink>; Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Hirschberger+N%22">Hirschberger N</searchLink>; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Shoukier+M%22">Shoukier M</searchLink>; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Filges+I%22">Filges I</searchLink>; Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel and University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22De+Geyter+J%22">De Geyter J</searchLink>; Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel and University of Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Borg+I%22">Borg I</searchLink>; Pathology Department, Section of Clinical Genetics, Mater Dei Hospital, Msida, Malta; Pathology Department, Faculty of Medicine and Surgery, The Medical School, University of Malta, Msida, Malta.<br /><searchLink fieldCode="AU" term="%22Kłosowska+A%22">Kłosowska A</searchLink>; Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, University Clinical Center, Gdansk, Poland.<br /><searchLink fieldCode="AU" term="%22Głuszkiewicz+L%22">Głuszkiewicz L</searchLink>; Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, University Clinical Center, Gdansk, Poland.<br /><searchLink fieldCode="AU" term="%22Allen+S%22">Allen S</searchLink>; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Cilliers+D%22">Cilliers D</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Foley+PA%22">Foley PA</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22McDonnell+C%22">McDonnell C</searchLink>; Department of Paediatric Endocrinology & Diabetes, Children's Health Ireland, Dublin, Ireland; Department of Paediatrics, School of Medicine, University of Dublin, Trinity College, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Sansović+I%22">Sansović I</searchLink>; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.<br /><searchLink fieldCode="AU" term="%22Odak+L%22">Odak L</searchLink>; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.<br /><searchLink fieldCode="AU" term="%22Vulin+K%22">Vulin K</searchLink>; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology with daily care unit, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.<br /><searchLink fieldCode="AU" term="%22Jensen+JM%22">Jensen JM</searchLink>; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Pedersen+IS%22">Pedersen IS</searchLink>; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Ernst+A%22">Ernst A</searchLink>; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Taşdelen+E%22">Taşdelen E</searchLink>; Department of Medical Genetics, Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kılıç+M%22">Kılıç M</searchLink>; Metabolism Unit, Department of Pediatrics, Ankara Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kılıç+E%22">Kılıç E</searchLink>; Genetics Unit, Department of Pediatrics, Ankara Bilkent City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Altunoğlu+U%22">Altunoğlu U</searchLink>; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Tatlı+B%22">Tatlı B</searchLink>; Istanbul Pediatric Neurology Clinic, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Akman+B%22">Akman B</searchLink>; Rare and Undiagnosed Diseases Group, İzmir Biomedicine and Genome Center, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Yıldırım+RN%22">Yıldırım RN</searchLink>; Rare and Undiagnosed Diseases Group, İzmir Biomedicine and Genome Center, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Gürsoy+S%22">Gürsoy S</searchLink>; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Bozkaya+ÖG%22">Bozkaya ÖG</searchLink>; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Niceta+M%22">Niceta M</searchLink>; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mancini+C%22">Mancini C</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ciolfi+A%22">Ciolfi A</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Severi+G%22">Severi G</searchLink>; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Capelli+M%22">Capelli M</searchLink>; Neonatal Intensive Care Unit and Neonatology, AUSL Romagna, Ospedale Infermi, Rimini, Italy.<br /><searchLink fieldCode="AU" term="%22Melis+D%22">Melis D</searchLink>; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy.<br /><searchLink fieldCode="AU" term="%22Onesimo+R%22">Onesimo R</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Leoni+C%22">Leoni C</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Department of Medical Sciences, University of Torino, Turin, Italy; Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Department of Public Health and Pediatrics, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Citterio+A%22">Citterio A</searchLink>; Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy.<br /><searchLink fieldCode="AU" term="%22Graziano+C%22">Graziano C</searchLink>; Medical Genetics Unit, AUSL Romagna, Cesena, Italy.<br /><searchLink fieldCode="AU" term="%22Donati+I%22">Donati I</searchLink>; Medical Genetics Unit, AUSL Romagna, Cesena, Italy.<br /><searchLink fieldCode="AU" term="%22Accadia+M%22">Accadia M</searchLink>; Medical Genetics Service, Hospital Cardinale G. Panico, Tricase, Italy.<br /><searchLink fieldCode="AU" term="%22Bisceglia+L%22">Bisceglia L</searchLink>; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Bruselles+A%22">Bruselles A</searchLink>; Molecular Medicine and Oncology, Istituto Superiore di Sanità, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Barragán-Arévalo+T%22">Barragán-Arévalo T</searchLink>; Department of Medical Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Boone+PM%22">Boone PM</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Nelson+RW%22">Nelson RW</searchLink>; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.<br /><searchLink fieldCode="AU" term="%22Cabet+S%22">Cabet S</searchLink>; Service d'imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; CNRS, Inserm, Physiospathologie et Génétique du Neurone et du Muscle, Institut NeuroMyoGène, Université de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Arlt+A%22">Arlt A</searchLink>; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany.<br /><searchLink fieldCode="AU" term="%22Hustinx+A%22">Hustinx A</searchLink>; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany.<br /><searchLink fieldCode="AU" term="%22Klinkhammer+H%22">Klinkhammer H</searchLink>; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany; Institute for Medical Biometry and Statistics, Marburg University, Marburg, Hesse, Germany.<br /><searchLink fieldCode="AU" term="%22Krawitz+P%22">Krawitz P</searchLink>; Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University Bonn, Bonn, NRW, Germany.<br /><searchLink fieldCode="AU" term="%22Amiel+J%22">Amiel J</searchLink>; Service de Médecine Génomique des Maladies Rares, CRMR Anomalies du Développement, Hôpital Necker-Enfants Malades, AP-HP, Paris, France; Genetics of Developmental Disorder Lab, INSERM UMR-1163, Université Paris Cité, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Consortium+A%22">Consortium A</searchLink>; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Palafoll+IV%22">Palafoll IV</searchLink>; Department of Clinical and Molecular Genetics, University Hospital Vall d´Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain; Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Suarez+F%22">Suarez F</searchLink>; Université Paris Cité, INSERM UMR1163, Institut Imagine, Paris, France; Department of Adult Hematology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Delous+M%22">Delous M</searchLink>; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France.<br /><searchLink fieldCode="AU" term="%22Mazoyer+S%22">Mazoyer S</searchLink>; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France. Electronic address: sylvie.mazoyer@inserm.fr.<br /><searchLink fieldCode="AU" term="%22Edery+P%22">Edery P</searchLink>; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France. Electronic address: charles-patrick.edery@chu-lyon.fr.<br /><searchLink fieldCode="AU" term="%22Putoux+A%22">Putoux A</searchLink>; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, GENDEV, Bron, France; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France. Electronic address: audrey.putoux@chu-lyon.fr.
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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. 102632. <i>Date of Electronic Publication: </i>2026 Jun 19.
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  Data: Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.gim.2026.102632
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      – Code: eng
        Text: English
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        StartPage: 102632
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      – TitleFull: Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.
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      – PersonEntity:
          Name:
            NameFull: Bruselles A
      – PersonEntity:
          Name:
            NameFull: Tartaglia M
      – PersonEntity:
          Name:
            NameFull: Barragán-Arévalo T
      – PersonEntity:
          Name:
            NameFull: Boone PM
      – PersonEntity:
          Name:
            NameFull: Nelson RW
      – PersonEntity:
          Name:
            NameFull: Cabet S
      – PersonEntity:
          Name:
            NameFull: Arlt A
      – PersonEntity:
          Name:
            NameFull: Hustinx A
      – PersonEntity:
          Name:
            NameFull: Klinkhammer H
      – PersonEntity:
          Name:
            NameFull: Krawitz P
      – PersonEntity:
          Name:
            NameFull: Amiel J
      – PersonEntity:
          Name:
            NameFull: Consortium A
      – PersonEntity:
          Name:
            NameFull: Palafoll IV
      – PersonEntity:
          Name:
            NameFull: Suarez F
      – PersonEntity:
          Name:
            NameFull: Delous M
      – PersonEntity:
          Name:
            NameFull: Mazoyer S
      – PersonEntity:
          Name:
            NameFull: Edery P
      – PersonEntity:
          Name:
            NameFull: Putoux A
    IsPartOfRelationships:
      – BibEntity:
          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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