{"id":"W2959892584","doi":"10.1038/s41467-019-10910-w","title":"AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders","year":2019,"lang":"en","type":"article","venue":"Nature Communications","topic":"Neuroscience and Neuropharmacology Research","field":"Neuroscience","cited_by":249,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Genome Canada; McGill University Health Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of Mental Health; National Heart, Lung, and Blood Institute; Medical Research Council; National Institutes of Health; Nature; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Great Ormond Street Hospital Charity; Eunice Kennedy Shriver National Institute of Child Health and Human Development; University College London Hospitals NHS Foundation Trust; Rosetrees Trust; University College London; National Natural Science Foundation of China; Brain Research UK; Ataxia UK; Wellcome Trust; Muscular Dystrophy Association","keywords":"AMPA receptor; Neurodevelopmental disorder; Glutamatergic; Rett syndrome; Protein subunit; Biology; Mutation; Neuroscience; Genetics; Glutamate receptor; Receptor; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001103893,0.0009561022,0.0002803184,0.0005876572,0.0003205408,0.0001974652,0.0002127585,0.0003586534,0.002958244],"category_scores_gemma":[0.0004803398,0.0001173712,0.0002108336,0.000269456,0.0003273293,0.0001384196,0.000401944,0.000257762,0.0004211602],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001630097,"about_ca_system_score_gemma":0.0001304792,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007702248,"about_ca_topic_score_gemma":0.0006914809,"domain_scores_codex":[0.9997832,0.00002074136,0.00003344012,0.00007535768,0.00006310798,0.0000240752],"domain_scores_gemma":[0.9998511,0.00002599751,0.00006412418,0.000009702173,0.00001832758,0.00003070483],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001122722,0.0001608454,0.1989037,0.0002774156,0.000276075,0.1079183,0.0005533854,0.0004276932,0.6652964,0.001000159,0.001906935,0.02215629],"study_design_scores_gemma":[0.0000914084,0.0005780038,0.4823197,0.00008872779,0.0002847976,0.3210995,0.0006180247,0.0008838492,0.1802364,0.0007598507,0.01300138,0.00003833553],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954194,0.0007768907,0.001021881,0.0001234446,0.00003199063,0.00001596617,0.0008013792,0.00006023765,0.001748811],"genre_scores_gemma":[0.9984791,0.000301654,0.0003768373,0.00003613272,0.00001400166,0.00000504044,0.0002660679,0.000009823573,0.000511335],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002958244,"threshold_uncertainty_score":0.009896278,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05321730810735988,"score_gpt":0.3636096937378417,"score_spread":0.3103923856304818,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}