Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.
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| Title: | Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies. |
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| Authors: | Santini A; Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Tognon A; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France., Richard AC; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France., Velasco G; Université Paris Cité, CNRS, Epigenetics and Cell Fate, UMR7216, Paris, France., Phan G; UMR 8038, Laboratoire CiTCoM (Cibles Thérapeutiques Et Conception de Médicaments), Faculté de Pharmacie de Paris, Université Paris Cité, CNRS, Paris, France., Marzin P; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.; Service de Gynécologie Et d'obstétrique, UF de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France., Maury F; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France., May A; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France., Michot C; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Chirita-Emandi A; Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy 'Victor Babes', Timisoara, Romania.; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children 'Louis Turcanu', Timisoara, Romania., Saraiva JM; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Faculty of Medicine, University Clinic of Pediatrics, University of Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal., Ballesta-Martinez MJ; Sección Genética Médica. Servicio de Pediatría. Hospital Clinico Universitario Virgen de La Arrixaca, Murcia, Spain., Lyonnet S; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Sansović I; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Brunelle P; Institut de Génétique Médicale, University Lille, CHU Lille, Lille, France., Ghoumid J; ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, University Lille, Clinique de Génétique, Lille, France., Le Guillou X; Service de Génétique Médicale, CHU de Poitiers, Poitiers, France., Le Tanno P; Genetic, Genomic and Procreation Department, CHU Grenoble Alpes, Grenoble, France., Willems M; Département de Génétique Clinique, CHRU de Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France.; Institute for Neurosciences of Montpellier, University Montpellier, INSERM, Montpellier, France., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Schanze I; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Isidor B; Department of Genetics, Centre Hospitalier Universitaire de Nantes, Nantes, France., Paulet A; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Levy J; Département de Génétique, Hôpital Robert Debré, Paris, France.; Laboratoire de Médecine Génomique SeqOIA, Paris, France., Ruscitti F; Département de Génétique, Hôpital Robert Debré, Paris, France., Pias-Peleteiro L; Neurometabolic Disorders Unit, Department of Child Neurology/Department of Genetics and Molecular Medicine, Sant Joan de Déu Hospital, Barcelona, Spain., Rio M; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Courtin T; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Abdallah HH; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Ducreux S; Laboratoire de Médecine Génomique SeqOIA, Paris, France., Laloy JS; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Rollier P; Génétique Clinique - Centre de Référence Maladies Rares CLAD-Ouest, FHU GenOMedS, CHU de Rennes, Rennes, France., Guerrot AM; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France., Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UMR5261 - INSERM, UCBL, CNRS, U1315, Lyon, France., Demurger F; Service de Génétique, CHBA, Vannes, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France., Delanne J; Inserm, CTM UMR1231, Équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, Université Bourgogne Europe, CHU Dijon Bourgogne, Et Centre de Référence GénoPsy, Dijon, France., Faivre L; Inserm, CTM UMR1231, Équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, Université Bourgogne Europe, CHU Dijon Bourgogne, Et Centre de Référence GénoPsy, Dijon, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France., Nicolas G; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France., Coussement A; Fédération de Génétique Et Médecine Génomique, Service de Médecine Génomique Des Maladies de Système Et d'Organes, AP-HP, Hôpital Cochin, Paris, France., Collet C; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Herenger Y; Genetica AG, Zurich, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland., Defrance M; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France., Charbonnier C; Department of Biostatistics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., de Dieuleveult M; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France. maud.de-dieuleveult@inserm.fr. |
| Source: | Genome medicine [Genome Med] 2026 Apr 08; Vol. 18 (1). Date of Electronic Publication: 2026 Apr 08. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41952182 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Santini+A%22">Santini A</searchLink>; Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Tognon+A%22">Tognon A</searchLink>; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Richard+AC%22">Richard AC</searchLink>; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Velasco+G%22">Velasco G</searchLink>; Université Paris Cité, CNRS, Epigenetics and Cell Fate, UMR7216, Paris, France.<br /><searchLink fieldCode="AU" term="%22Phan+G%22">Phan G</searchLink>; UMR 8038, Laboratoire CiTCoM (Cibles Thérapeutiques Et Conception de Médicaments), Faculté de Pharmacie de Paris, Université Paris Cité, CNRS, Paris, France.<br /><searchLink fieldCode="AU" term="%22Marzin+P%22">Marzin P</searchLink>; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.; Service de Gynécologie Et d'obstétrique, UF de Génétique Médicale, Centre Hospitalier Universitaire de La Réunion, La Réunion, France.<br /><searchLink fieldCode="AU" term="%22Maury+F%22">Maury F</searchLink>; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22May+A%22">May A</searchLink>; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Michot+C%22">Michot C</searchLink>; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chirita-Emandi+A%22">Chirita-Emandi A</searchLink>; Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy 'Victor Babes', Timisoara, Romania.; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children 'Louis Turcanu', Timisoara, Romania.<br /><searchLink fieldCode="AU" term="%22Saraiva+JM%22">Saraiva JM</searchLink>; Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Faculty of Medicine, University Clinic of Pediatrics, University of Coimbra, Coimbra, Portugal.; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Ballesta-Martinez+MJ%22">Ballesta-Martinez MJ</searchLink>; Sección Genética Médica. Servicio de Pediatría. Hospital Clinico Universitario Virgen de La Arrixaca, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Lyonnet+S%22">Lyonnet S</searchLink>; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sansović+I%22">Sansović I</searchLink>; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Children's Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brunelle+P%22">Brunelle P</searchLink>; Institut de Génétique Médicale, University Lille, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Ghoumid+J%22">Ghoumid J</searchLink>; ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, University Lille, Clinique de Génétique, Lille, France.<br /><searchLink fieldCode="AU" term="%22Le+Guillou+X%22">Le Guillou X</searchLink>; Service de Génétique Médicale, CHU de Poitiers, Poitiers, France.<br /><searchLink fieldCode="AU" term="%22Le+Tanno+P%22">Le Tanno P</searchLink>; Genetic, Genomic and Procreation Department, CHU Grenoble Alpes, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Willems+M%22">Willems M</searchLink>; Département de Génétique Clinique, CHRU de Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France.; Institute for Neurosciences of Montpellier, University Montpellier, INSERM, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Zenker+M%22">Zenker M</searchLink>; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schanze+I%22">Schanze I</searchLink>; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Moortgat+S%22">Moortgat S</searchLink>; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Department of Genetics, Centre Hospitalier Universitaire de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Paulet+A%22">Paulet A</searchLink>; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Yeung+A%22">Yeung A</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Département de Génétique, Hôpital Robert Debré, Paris, France.; Laboratoire de Médecine Génomique SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ruscitti+F%22">Ruscitti F</searchLink>; Département de Génétique, Hôpital Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pias-Peleteiro+L%22">Pias-Peleteiro L</searchLink>; Neurometabolic Disorders Unit, Department of Child Neurology/Department of Genetics and Molecular Medicine, Sant Joan de Déu Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Rio+M%22">Rio M</searchLink>; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Abdallah+HH%22">Abdallah HH</searchLink>; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ducreux+S%22">Ducreux S</searchLink>; Laboratoire de Médecine Génomique SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Laloy+JS%22">Laloy JS</searchLink>; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rollier+P%22">Rollier P</searchLink>; Génétique Clinique - Centre de Référence Maladies Rares CLAD-Ouest, FHU GenOMedS, CHU de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Guerrot+AM%22">Guerrot AM</searchLink>; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UMR5261 - INSERM, UCBL, CNRS, U1315, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Demurger+F%22">Demurger F</searchLink>; Service de Génétique, CHBA, Vannes, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; Inserm, CTM UMR1231, Équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, Université Bourgogne Europe, CHU Dijon Bourgogne, Et Centre de Référence GénoPsy, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Inserm, CTM UMR1231, Équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, Université Bourgogne Europe, CHU Dijon Bourgogne, Et Centre de Référence GénoPsy, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Department of Genetics and Reference Center for Developmental Abnormalities, University Rouen Normandie, Normandie University, Inserm U1245 and CHU Rouen, 76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Coussement+A%22">Coussement A</searchLink>; Fédération de Génétique Et Médecine Génomique, Service de Médecine Génomique Des Maladies de Système Et d'Organes, AP-HP, Hôpital Cochin, Paris, France.<br /><searchLink fieldCode="AU" term="%22Collet+C%22">Collet C</searchLink>; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Herenger+Y%22">Herenger Y</searchLink>; Genetica AG, Zurich, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Defrance+M%22">Defrance M</searchLink>; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France.; Service de Médecine Génomique Des Maladies Rares, Faculté de Médecine, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, Université de Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Charbonnier+C%22">Charbonnier C</searchLink>; Department of Biostatistics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22de+Dieuleveult+M%22">de Dieuleveult M</searchLink>; Université Paris Cité, INSERM U1163, Imagine Institute, Paris, France. maud.de-dieuleveult@inserm.fr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2026 Apr 08; Vol. 18 (1). <i>Date of Electronic Publication: </i>2026 Apr 08. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41952182 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-026-01639-5 Languages: – Code: eng Text: English Titles: – TitleFull: Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Santini A – PersonEntity: Name: NameFull: Tognon A – PersonEntity: Name: NameFull: Richard AC – PersonEntity: Name: NameFull: Velasco G – PersonEntity: Name: NameFull: Phan G – PersonEntity: Name: NameFull: Marzin P – PersonEntity: Name: NameFull: Maury F – PersonEntity: Name: NameFull: May A – PersonEntity: Name: NameFull: Michot C – PersonEntity: Name: NameFull: Chirita-Emandi A – PersonEntity: Name: NameFull: Saraiva JM – PersonEntity: Name: NameFull: Ballesta-Martinez MJ – PersonEntity: Name: NameFull: Lyonnet S – PersonEntity: Name: NameFull: Sansović I – PersonEntity: Name: NameFull: Barakat TS – PersonEntity: Name: NameFull: Brunelle P – PersonEntity: Name: NameFull: Ghoumid J – PersonEntity: Name: NameFull: Le Guillou X – PersonEntity: Name: NameFull: Le Tanno P – PersonEntity: Name: NameFull: Willems M – PersonEntity: Name: NameFull: Zenker M – PersonEntity: Name: NameFull: Schanze I – PersonEntity: Name: NameFull: Moortgat S – PersonEntity: Name: NameFull: Isidor B – PersonEntity: Name: NameFull: Paulet A – PersonEntity: Name: NameFull: Yeung A – PersonEntity: Name: NameFull: Levy J – PersonEntity: Name: NameFull: Ruscitti F – PersonEntity: Name: NameFull: Pias-Peleteiro L – PersonEntity: Name: NameFull: Rio M – PersonEntity: Name: NameFull: Courtin T – PersonEntity: Name: NameFull: Abdallah HH – PersonEntity: Name: NameFull: Ducreux S – PersonEntity: Name: NameFull: Laloy JS – PersonEntity: Name: NameFull: Rollier P – PersonEntity: Name: NameFull: Guerrot AM – PersonEntity: Name: NameFull: Chatron N – PersonEntity: Name: NameFull: Demurger F – PersonEntity: Name: NameFull: Goldenberg A – PersonEntity: Name: NameFull: Delanne J – PersonEntity: Name: NameFull: Faivre L – PersonEntity: Name: NameFull: Lecoquierre F – PersonEntity: Name: NameFull: Nicolas G – PersonEntity: Name: NameFull: Coussement A – PersonEntity: Name: NameFull: Collet C – PersonEntity: Name: NameFull: Herenger Y – PersonEntity: Name: NameFull: Defrance M – PersonEntity: Name: NameFull: Cormier-Daire V – PersonEntity: Name: NameFull: Charbonnier C – PersonEntity: Name: NameFull: de Dieuleveult M IsPartOfRelationships: – BibEntity: Dates: – D: 08 M: 04 Text: 2026 Apr 08 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1756-994X Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Genome medicine Type: main |
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