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Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

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Title: Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.
Authors: Zarea A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000, Rouen, France., Cassinari K; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Lecoquierre F; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Quenez O; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Charbonnier C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Biostatistics and CNRMAJ, F-76000, Rouen, France., Schramm C; Univ Rouen Normandie, Normandie Univ, Inserm U1245, F-76000, Rouen, France., Lacour M; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000, Rouen, France., Rousseau S; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Richard AC; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France., Rovelet-Lecrux A; Univ Rouen Normandie, Normandie Univ, Inserm U1245, F-76000, Rouen, France., Lecourtois M; Univ Rouen Normandie, Normandie Univ, Inserm U1245, F-76000, Rouen, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France., Gilissen C; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Veltman JA; Institute of Genetics and Cancer, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, UK., Vissers LE; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Bellenguez C; Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France., Dols-Icardo O; Department of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Networking Center on Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain., Hardy J; Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK., Holstege H; Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.; Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands., Hulsman M; Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.; Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands., Lambert JC; Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France., Mead S; Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases, London, UK., Ramirez A; German Center for Neurodegenerative Diseases, Bonn, Germany.; Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX, USA.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Disease (CECAD), University of Cologne, Cologne, Germany., Sims R; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK., van Swieten J; Department of Neurology, Erasmus Medical Centre, Rotterdam, the Netherlands., Wagner M; German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Cognitive Disorders and Old Age Psychiatry, University Hospital Bonn, Medical Faculty, Bonn, Germany., Williams J; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.; Moondance Dementia Research Laboratory, Cardiff University, Cardiff, UK., Bombois S; AP-HP Sorbonne Université, Hôpital Pitié-Salpêtrière, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Boutoleau-Bretonniere C; Nantes Université, CHU Nantes, INSERM, Centre Mémoire Ressource et Recherche (CMRR), Department of Neurology, CIC 1413, F-44000, Nantes, France., Charmard-Witkowski L; McGill University Research Center for Studies on aging, Douglas Mental Health University Institute, McGill University Department of Neurology and Neurosurgery, Faculty of Medicine, McGill University, Montreal, Canada., de la Sayette V; INSERM, U1077, CHU de Caen, GIP Cyceron, Neuropsychologie et Imagerie de la Mémoire Humaine, and Department of Neurology, CHU Caen-Normandie, F-14000, Caen, France., Deramecourt V; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz, 59000, Lille, France., Etcharry-Bouyx F; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Gabelle A; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France., Gueriot C; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Le Guyader G; Service de Génétique, CHU Poitiers, Poitiers Cedex, France., Le Ber I; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Lebouvier T; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz, 59000, Lille, France., Martinaud O; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France., Michon A; Département des Maladies du Système Nerveux, Institut de la mémoire et de la maladie d'Alzheimer (IM2A), Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France., Quelin C; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France., Sarazin M; Department of Neurology of Memory and Language, CMRR-Paris Sainte Anne, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006, Paris, France.; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Sévin M; Department of Neurology, CHU Nantes, 44093, Nantes, France., Thauvin-Robinet C; Université de Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares Neurogène, INSERM, CTM UMR 1231, GAD, 21000, Dijon, France., Wallon D; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000, Rouen, France., Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France. gaelnicolas@hotmail.com.
Source: Molecular psychiatry [Mol Psychiatry] 2026 May 29. Date of Electronic Publication: 2026 May 29.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Zarea+A%22">Zarea A</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Cassinari+K%22">Cassinari K</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Quenez+O%22">Quenez O</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Charbonnier+C%22">Charbonnier C</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Biostatistics and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Schramm+C%22">Schramm C</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lacour+M%22">Lacour M</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Rousseau+S%22">Rousseau S</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Richard+AC%22">Richard AC</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Rovelet-Lecrux+A%22">Rovelet-Lecrux A</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lecourtois+M%22">Lecourtois M</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Olaso+R%22">Olaso R</searchLink>; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.<br /><searchLink fieldCode="AU" term="%22Boland+A%22">Boland A</searchLink>; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.<br /><searchLink fieldCode="AU" term="%22Deleuze+JF%22">Deleuze JF</searchLink>; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Veltman+JA%22">Veltman JA</searchLink>; Institute of Genetics and Cancer, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Vissers+LE%22">Vissers LE</searchLink>; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bellenguez+C%22">Bellenguez C</searchLink>; Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France.<br /><searchLink fieldCode="AU" term="%22Dols-Icardo+O%22">Dols-Icardo O</searchLink>; Department of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Networking Center on Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Hardy+J%22">Hardy J</searchLink>; Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Holstege+H%22">Holstege H</searchLink>; Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.; Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hulsman+M%22">Hulsman M</searchLink>; Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.; Delft Bioinformatics Lab, Delft University of Technology, Delft, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Lambert+JC%22">Lambert JC</searchLink>; Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France.<br /><searchLink fieldCode="AU" term="%22Mead+S%22">Mead S</searchLink>; Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases, London, UK.<br /><searchLink fieldCode="AU" term="%22Ramirez+A%22">Ramirez A</searchLink>; German Center for Neurodegenerative Diseases, Bonn, Germany.; Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX, USA.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Disease (CECAD), University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Sims+R%22">Sims R</searchLink>; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22van+Swieten+J%22">van Swieten J</searchLink>; Department of Neurology, Erasmus Medical Centre, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Cognitive Disorders and Old Age Psychiatry, University Hospital Bonn, Medical Faculty, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Williams+J%22">Williams J</searchLink>; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.; Moondance Dementia Research Laboratory, Cardiff University, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Bombois+S%22">Bombois S</searchLink>; AP-HP Sorbonne Université, Hôpital Pitié-Salpêtrière, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France.<br /><searchLink fieldCode="AU" term="%22Boutoleau-Bretonniere+C%22">Boutoleau-Bretonniere C</searchLink>; Nantes Université, CHU Nantes, INSERM, Centre Mémoire Ressource et Recherche (CMRR), Department of Neurology, CIC 1413, F-44000, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Charmard-Witkowski+L%22">Charmard-Witkowski L</searchLink>; McGill University Research Center for Studies on aging, Douglas Mental Health University Institute, McGill University Department of Neurology and Neurosurgery, Faculty of Medicine, McGill University, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22de+la+Sayette+V%22">de la Sayette V</searchLink>; INSERM, U1077, CHU de Caen, GIP Cyceron, Neuropsychologie et Imagerie de la Mémoire Humaine, and Department of Neurology, CHU Caen-Normandie, F-14000, Caen, France.<br /><searchLink fieldCode="AU" term="%22Deramecourt+V%22">Deramecourt V</searchLink>; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz, 59000, Lille, France.<br /><searchLink fieldCode="AU" term="%22Etcharry-Bouyx+F%22">Etcharry-Bouyx F</searchLink>; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France.<br /><searchLink fieldCode="AU" term="%22Gabelle+A%22">Gabelle A</searchLink>; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Gueriot+C%22">Gueriot C</searchLink>; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Le+Guyader+G%22">Le Guyader G</searchLink>; Service de Génétique, CHU Poitiers, Poitiers Cedex, France.<br /><searchLink fieldCode="AU" term="%22Le+Ber+I%22">Le Ber I</searchLink>; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lebouvier+T%22">Lebouvier T</searchLink>; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz, 59000, Lille, France.<br /><searchLink fieldCode="AU" term="%22Martinaud+O%22">Martinaud O</searchLink>; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France.<br /><searchLink fieldCode="AU" term="%22Michon+A%22">Michon A</searchLink>; Département des Maladies du Système Nerveux, Institut de la mémoire et de la maladie d'Alzheimer (IM2A), Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Quelin+C%22">Quelin C</searchLink>; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Sarazin+M%22">Sarazin M</searchLink>; Department of Neurology of Memory and Language, CMRR-Paris Sainte Anne, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006, Paris, France.; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France.<br /><searchLink fieldCode="AU" term="%22Sévin+M%22">Sévin M</searchLink>; Department of Neurology, CHU Nantes, 44093, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Thauvin-Robinet+C%22">Thauvin-Robinet C</searchLink>; Université de Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares Neurogène, INSERM, CTM UMR 1231, GAD, 21000, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Wallon+D%22">Wallon D</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France. gaelnicolas@hotmail.com.
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            – D: 29
              M: 05
              Text: 2026 May 29
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1476-5578
          Titles:
            – TitleFull: Molecular psychiatry
              Type: main
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