{"id":"W4410629522","doi":"10.1016/j.bpsc.2025.05.010","title":"Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology","year":2025,"lang":"en","type":"article","venue":"Biological Psychiatry Cognitive Neuroscience and Neuroimaging","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; SickKids Foundation; University Health Network; University of Toronto; Centre Hospitalier Universitaire Sainte-Justine; Institute for Clinical Evaluative Sciences; Centre for Addiction and Mental Health","funders":"Cilag; FP7 Health; H2020 European Research Council; National Institute of Child Health and Human Development; National Institute of Biomedical Imaging and Bioengineering; National Institute of Mental Health; Norwegian Institute of Public Health; Faculty of Medicine and Health, University of Sydney; National Human Genome Research Institute; Helmholtz Zentrum München; Helse Sør-Øst RHF; National Health and Medical Research Council; Qatar Biomedical Research Institute, Hamad Bin Khalifa University; Perelman School of Medicine, University of Pennsylvania; National Institutes of Health; Medical Research Council; Sickkids Research Institute; New South Wales Government; Avera Institute for Human Genetics; Charles R. Drew University of Medicine and Science; Institut de Valorisation des Données; Instituto de Investigación Marqués de Valdecilla; Norwegian Biodiversity Information Centre; Freie Universität Berlin; Bundesministerium für Bildung und Forschung; Canada First Research Excellence Fund; Khalifa University of Science, Technology and Research; University of Cape Town; Commissariat à l'Énergie Atomique et aux Énergies Alternatives; Bergens Forskningsstiftelse; Université de Bordeaux; H. Lundbeck A/S; European Federation of Pharmaceutical Industries and Associations; Institut National de la Santé et de la Recherche Médicale; Humboldt-Universität zu Berlin; Universitair Medisch Centrum Groningen; Public Health Wales; Universitätsmedizin Göttingen; Universitetet i Bergen; Astellas Pharma; Helse Midt-Norge; Vetenskapsrådet; Hamad Bin Khalifa University; Helse Vest; Centre National de la Recherche Scientifique; Department of Health and Aged Care, Australian Government; Fudan University; School of Psychology, Cardiff University; Innovative Medicines Initiative; Siemens Healthineers; Fondation pour la Recherche Médicale; Société d'Accélération du Transfert de Technologies; Vrije Universiteit Amsterdam; ZonMw; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; Koninklijke Nederlandse Akademie van Wetenschappen; National Natural Science Foundation of China; Karolinska Institutet; National Institute for Health and Care Research; University of Queensland; Sorbonne Université; Queensland University of Technology; Norges Forskningsråd; Stockholms Läns Landsting; University of New South Wales; South African Medical Research Council; Rijksuniversiteit Groningen; National Science Foundation; Natera; University of Toronto; King's College London; Imperial College London; Universidad de Sevilla; Royal College of Surgeons in Ireland; Psychiatry Research Trust; Universität Greifswald; Deutsche Forschungsgemeinschaft; Assistance publique-Hôpitaux de Paris; Biogen; Wellcome Trust; Agence Nationale de la Recherche; QIMR Berghofer Medical Research Institute; Ministry of Cultural Affairs; Australian Government; Haukeland Universitetssjukehus; Children's Hospital of Philadelphia; Simons Foundation Autism Research Initiative; Fédération pour la Recherche sur le Cerveau; University of Oxford; Neuroscience Research Australia; Canadian Institutes of Health Research; European Commission; University of Utah; Fondation Brain Canada; Norges Teknisk-Naturvitenskapelige Universitet; Georgia State University; Foundation for the National Institutes of Health; University of Southern California; Instituto de Salud Carlos III; Universidad de Cantabria; Universitetet i Oslo; Fondation de l'Avenir pour la Recherche Médicale Appliquée; Instituto de Física de Cantabria; Autism Speaks; Emory University; Technische Universität Dresden; Fondation de France; University of Pennsylvania; Queensland Brain Institute; Université Paris-Saclay; Hospital for Sick Children; Sunovion; Stanford Maternal and Child Health Research Institute; University of Roehampton; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; McGill University; Centre for Medical Systems Biology; Qatar Foundation; Servier; University of Galway; Cardiff University; Compute Canada; Science Foundation Ireland","keywords":"Penetrance; Copy-number variation; Morphology (biology); Biology; Evolutionary biology; Genetics; Phenotype; Gene; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00156603,0.000593248,0.0005863031,0.001779141,0.0003075603,0.0007598607,0.0004653423,0.0006080687,0.002514475],"category_scores_gemma":[0.006795439,0.0003297661,0.0008455439,0.001468695,0.0005777293,0.0003662231,0.000746013,0.0004994958,0.0001817218],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002018742,"about_ca_system_score_gemma":0.0001896245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001985507,"about_ca_topic_score_gemma":0.001670599,"domain_scores_codex":[0.9989675,0.0002222548,0.00013269,0.0004395091,0.0001497572,0.00008821271],"domain_scores_gemma":[0.9936427,0.003036048,0.002458042,0.0004014945,0.0002211656,0.0002405591],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004962052,0.00002054618,0.9869006,0.00004235867,0.00102738,0.0008192557,0.0001469928,0.0005498051,0.006471279,0.00008688419,0.00009419405,0.003344435],"study_design_scores_gemma":[0.00002433956,0.00007743342,0.9954632,0.0000150212,0.0004283434,0.002087195,0.00005226726,0.0007253867,0.0007055773,0.0002597332,0.0001534842,0.000008173533],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985268,0.0003762136,0.0004722642,0.00003973956,0.000002582382,0.000005911232,0.0003829195,0.00001626218,0.0001772049],"genre_scores_gemma":[0.9993457,0.00009806429,0.0001925694,0.000008623227,0.000005488925,0.000004300765,0.0002965974,0.000006922042,0.00004168427],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002514475,"threshold_uncertainty_score":0.008411765,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01725000001736202,"score_gpt":0.2717458432126625,"score_spread":0.2544958431953005,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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