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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

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Title: ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Authors: Houdayer C; Service de Génétique Médicale, CHU d'Angers, Angers, France. clara.houdayer@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. clara.houdayer@chu-angers.fr., Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., van der Laan L; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Bris C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France., Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Bahr A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland., Barcia G; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France., Begemann A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland., Bonneau D; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France., Bonnevalle A; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Boughalem A; Laboratoire Cerba, Saint-Ouen-l'Aumone, France., Bourges A; Service de Génétique Médicale, CHU d'Angers, Angers, France., Bournez M; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Bruel AL; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Carallis F; Laboratoire Multisites SeqOIA, Paris, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France., Cormier-Daire V; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Delanne J; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Demaret T; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Denommé-Pichon AS; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Désir J; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Dubourg C; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France., Fradin M; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France., Geneviève D; Montpellier University, Inserm, U1183, Montpellier, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Goel H; Hunter Genetics, Waratah, NSW, Australia., Goldenberg A; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Guichet A; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France., Guimier A; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Jacquinet A; Department of Genetics, Sart Tilman University Hospital, Liège, Belgium., Keren B; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Legoff L; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Mendelsohn BA; Department of Medical Genetics, Kaiser Oakland Medical Center, Oakland, CA, USA., Mignot C; APHP Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Milon V; Service de Génétique Médicale, CHU d'Angers, Angers, France., Nizon M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France., Oneda B; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland., Pasquier L; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France., Patat O; Department of Genetics, University Hospital of Toulouse, Toulouse, France., Philippe C; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Procaccio V; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France., Procopio R; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Prouteau C; Service de Génétique Médicale, CHU d'Angers, Angers, France., Rambaud T; Laboratoire Multisites SeqOIA, Paris, France., Rauch A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Rondeau S; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Schleit J; Blueprint Genetics, Quest Diagnostics Company, 2505 3rd Ave, Suite 204, Seattle, WA, 98121, USA., Sorlin A; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Steindl K; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland., Tedder M; Greenwood Genetic Center, Greenwood, IN, USA., Tessarech M; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France., Mau-Them FT; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Trost D; Laboratoire Cerba, Saint-Ouen-l'Aumone, France., Van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vincent M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France., Whalen S; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Thauvin-Robinet C; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Vitobello A; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France. escolin@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. escolin@chu-angers.fr.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Nov; Vol. 33 (11), pp. 1422-1431. Date of Electronic Publication: 2025 Mar 05.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Houdayer+C%22">Houdayer C</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France. clara.houdayer@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. clara.houdayer@chu-angers.fr.<br /><searchLink fieldCode="AU" term="%22Rooney+K%22">Rooney K</searchLink>; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22van+der+Laan+L%22">van der Laan L</searchLink>; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bris+C%22">Bris C</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bahr+A%22">Bahr A</searchLink>; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Barcia+G%22">Barcia G</searchLink>; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Battault+C%22">Battault C</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Begemann+A%22">Begemann A</searchLink>; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.<br /><searchLink fieldCode="AU" term="%22Bonnevalle+A%22">Bonnevalle A</searchLink>; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Boughalem+A%22">Boughalem A</searchLink>; Laboratoire Cerba, Saint-Ouen-l'Aumone, France.<br /><searchLink fieldCode="AU" term="%22Bourges+A%22">Bourges A</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Bournez+M%22">Bournez M</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Buhas+D%22">Buhas D</searchLink>; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Carallis+F%22">Carallis F</searchLink>; Laboratoire Multisites SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Demaret+T%22">Demaret T</searchLink>; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Désir+J%22">Désir J</searchLink>; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Fradin+M%22">Fradin M</searchLink>; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Geneviève+D%22">Geneviève D</searchLink>; Montpellier University, Inserm, U1183, Montpellier, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Goel+H%22">Goel H</searchLink>; Hunter Genetics, Waratah, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Gripp+KW%22">Gripp KW</searchLink>; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.<br /><searchLink fieldCode="AU" term="%22Guichet+A%22">Guichet A</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.<br /><searchLink fieldCode="AU" term="%22Guimier+A%22">Guimier A</searchLink>; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Jacquinet+A%22">Jacquinet A</searchLink>; Department of Genetics, Sart Tilman University Hospital, Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Legoff+L%22">Legoff L</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.<br /><searchLink fieldCode="AU" term="%22Levy+MA%22">Levy MA</searchLink>; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22McConkey+H%22">McConkey H</searchLink>; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Mendelsohn+BA%22">Mendelsohn BA</searchLink>; Department of Medical Genetics, Kaiser Oakland Medical Center, Oakland, CA, USA.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; APHP Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.<br /><searchLink fieldCode="AU" term="%22Milon+V%22">Milon V</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Oneda+B%22">Oneda B</searchLink>; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Pasquier+L%22">Pasquier L</searchLink>; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Patat+O%22">Patat O</searchLink>; Department of Genetics, University Hospital of Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Procaccio+V%22">Procaccio V</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.<br /><searchLink fieldCode="AU" term="%22Procopio+R%22">Procopio R</searchLink>; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.<br /><searchLink fieldCode="AU" term="%22Prouteau+C%22">Prouteau C</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Rambaud+T%22">Rambaud T</searchLink>; Laboratoire Multisites SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Relator+R%22">Relator R</searchLink>; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Rondeau+S%22">Rondeau S</searchLink>; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Santen+GWE%22">Santen GWE</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schleit+J%22">Schleit J</searchLink>; Blueprint Genetics, Quest Diagnostics Company, 2505 3rd Ave, Suite 204, Seattle, WA, 98121, USA.<br /><searchLink fieldCode="AU" term="%22Sorlin+A%22">Sorlin A</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Tedder+M%22">Tedder M</searchLink>; Greenwood Genetic Center, Greenwood, IN, USA.<br /><searchLink fieldCode="AU" term="%22Tessarech+M%22">Tessarech M</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.<br /><searchLink fieldCode="AU" term="%22Mau-Them+FT%22">Mau-Them FT</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Trost+D%22">Trost D</searchLink>; Laboratoire Cerba, Saint-Ouen-l'Aumone, France.<br /><searchLink fieldCode="AU" term="%22Van+der+Sluijs+PJ%22">Van der Sluijs PJ</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Whalen+S%22">Whalen S</searchLink>; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Thauvin-Robinet+C%22">Thauvin-Robinet C</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Colin+E%22">Colin E</searchLink>; Service de Génétique Médicale, CHU d'Angers, Angers, France. escolin@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. escolin@chu-angers.fr.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2025 Nov; Vol. 33 (11), pp. 1422-1431. <i>Date of Electronic Publication: </i>2025 Mar 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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      – TitleFull: ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
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