{"id":"W2619882435","doi":"10.1212/nxg.0000000000000148","title":"<i>ARHGEF9</i> disease","year":2017,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; Science and Engineering Research Board; Ontario Genomics; Indian Council of Medical Research; University of Mysore; National Institutes of Health; Hospital for Sick Children; Autism Speaks; University of Toronto; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics Institute; Government of Ontario","keywords":"Intellectual disability; Epilepsy; Loss function; Phenotype; Exon; Mutation; Facial dysmorphism; Genetics; Disease; Medicine; Genetic testing; Pediatrics; Gene; Biology; Psychiatry; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000271429,0.00007444841,0.0001114348,0.00002350311,0.0001518106,0.00001896755,0.0001268562,0.00005326619,0.00009823416],"category_scores_gemma":[0.00009934999,0.00006500177,0.00005824676,0.00001222724,0.0001780468,0.00001747123,0.000100404,0.0001172878,0.0001705837],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001684122,"about_ca_system_score_gemma":0.00004083606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004306665,"about_ca_topic_score_gemma":0.00001042499,"domain_scores_codex":[0.9995118,0.00001219887,0.00008009012,0.0001614982,0.00008040651,0.0001539423],"domain_scores_gemma":[0.9991921,0.0000161949,0.00003683017,0.0005514402,0.00003369363,0.0001697545],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005436466,0.00008660238,0.9715695,0.0000236842,0.00002317816,0.0006527812,0.00002125162,0.000002194052,0.003353376,0.0002469312,0.002109385,0.02136741],"study_design_scores_gemma":[0.0005168365,0.0002992653,0.9211872,0.000001928623,0.0000628191,0.00004794924,6.902851e-7,0.0001575437,0.0007580715,0.0003370609,0.07657231,0.00005834137],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9768903,0.0005811487,0.000009921262,0.007825213,0.0003234011,0.0001004451,0.00000673324,0.00003365101,0.0142292],"genre_scores_gemma":[0.9925015,0.0001486334,0.00006600958,0.004606657,0.0002348263,0.000004226631,0.000003697726,0.00001274837,0.002421713],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07446293,"threshold_uncertainty_score":0.2650695,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02457271083163875,"score_gpt":0.2894440906120753,"score_spread":0.2648713797804365,"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."}}