{"id":"W2767911996","doi":"10.1186/s13229-017-0175-3","title":"Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly","year":2017,"lang":"en","type":"article","venue":"Molecular Autism","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; McMaster University; SickKids Foundation; Centre for Addiction and Mental Health; Hospital for Sick Children","funders":"Hospital for Sick Children; Canada Foundation for Innovation; Ontario Genomics Institute; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; University of Toronto; GlaxoSmithKline; Government of Ontario; Autism Speaks","keywords":"Macrocephaly; Autism spectrum disorder; Autism; Intellectual disability; Neuropsychology; Medicine; Neurology; Pervasive developmental disorder; Human genetics; Psychiatry; Pediatrics; Genetics; Cognition; Biology","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":[0.0001411376,0.0005149296,0.0002197362,0.001371256,0.0004408958,0.0001745412,0.0001372309,0.0005646631,0.001729473],"category_scores_gemma":[0.0003459276,0.0001689437,0.0002272118,0.0003396707,0.0002433138,0.000148847,0.00032232,0.0001861063,0.0002625778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001640093,"about_ca_system_score_gemma":0.0001313815,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001213287,"about_ca_topic_score_gemma":0.001423678,"domain_scores_codex":[0.999876,0.00001617084,0.0000142262,0.0000426218,0.00003180611,0.00001919902],"domain_scores_gemma":[0.9999255,0.00001887804,0.00002512512,0.000004907135,0.00000645563,0.00001909181],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006095761,0.0001131542,0.4093909,0.00009481068,0.0001113221,0.1336278,0.001180874,0.0003601782,0.4287545,0.0005559061,0.0005570984,0.02464398],"study_design_scores_gemma":[0.00003499856,0.000358215,0.7492316,0.00004217061,0.0001446802,0.220198,0.0005930431,0.0008338087,0.02528271,0.0004075733,0.002849463,0.00002374301],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988459,0.000235977,0.0002848515,0.00004530375,0.000003702398,0.000004817894,0.00009092494,0.00001647735,0.0004719458],"genre_scores_gemma":[0.9989763,0.0001844001,0.0004270992,0.0000287227,0.000007087589,0.000006020043,0.00009528961,0.000006395926,0.0002685014],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001729473,"threshold_uncertainty_score":0.005785644,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006793884960138071,"score_gpt":0.2397287412169976,"score_spread":0.2329348562568595,"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."}}