{"id":"W3131452986","doi":"10.1038/s41436-020-01075-9","title":"DLG4-related synaptopathy: a new rare brain disorder","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Human Genome Research Institute; Deutsche Forschungsgemeinschaft","keywords":"Neuroscience; Medicine; Biology","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":[0.0001810904,0.001882212,0.0008199613,0.001754057,0.0009591628,0.00100334,0.000926926,0.002109406,0.002348529],"category_scores_gemma":[0.001111713,0.0003301146,0.0004362325,0.001150607,0.001726457,0.0006162009,0.001613952,0.001232616,0.0005155774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008599177,"about_ca_system_score_gemma":0.0006532179,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001521903,"about_ca_topic_score_gemma":0.001970456,"domain_scores_codex":[0.9998017,0.00002975867,0.00002220873,0.00004941599,0.0000455994,0.00005127558],"domain_scores_gemma":[0.9994036,0.000210395,0.0001248507,0.00003857485,0.00004808273,0.0001744747],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004513676,0.00004268972,0.00978157,0.0001851154,0.00009494741,0.9481876,0.000172585,0.0004446036,0.02610715,0.002405763,0.001475341,0.01065125],"study_design_scores_gemma":[0.00008355636,0.0001122988,0.01242462,0.00004271021,0.0001700972,0.9666125,0.0002424424,0.001637975,0.009558622,0.004224766,0.004854035,0.00003639927],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9648263,0.008770047,0.00965533,0.004056172,0.0003377586,0.0001104075,0.001020848,0.0004387207,0.01078437],"genre_scores_gemma":[0.9929767,0.001480278,0.002816147,0.0003563315,0.0001384906,0.00002175426,0.0002600315,0.00003109225,0.001919125],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002348529,"threshold_uncertainty_score":0.007856667,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007629390865962354,"score_gpt":0.2586509678020307,"score_spread":0.2510215769360683,"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."}}