{"id":"W3130193974","doi":"10.1097/iae.0000000000003133","title":"LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED","year":2021,"lang":"en","type":"review","venue":"Retina","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"National Eye Institute","keywords":"Medicine; Quality of life (healthcare); Disease; Pediatrics; Visual impairment; Clinical trial; Blindness; Stargardt disease; Intensive care medicine; Bioinformatics; Macular degeneration; Internal medicine; Ophthalmology; Biology; Optometry; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002357833,0.0004765977,0.0008990577,0.000106359,0.0001043506,0.00007084722,0.0003208073,0.0005002099,0.0005294738],"category_scores_gemma":[0.0001853088,0.0003622481,0.0003124119,0.0003766059,0.00008643707,0.000004946784,0.0002872779,0.0002384816,0.0001107676],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005532242,"about_ca_system_score_gemma":0.0007967929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002843128,"about_ca_topic_score_gemma":0.00003801653,"domain_scores_codex":[0.9976568,0.0001962617,0.0004847919,0.0007312446,0.0005456745,0.0003852388],"domain_scores_gemma":[0.9988996,0.00004492415,0.0001713303,0.0004232179,0.0001454144,0.0003154909],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002666021,0.0006005149,0.0001732987,0.005224624,0.00141814,0.0009251424,0.0001513903,0.000008598737,0.0001291025,0.0001780367,0.1494982,0.8414264],"study_design_scores_gemma":[0.000450023,0.0005228113,0.00009317476,0.002663407,0.0002977583,0.000387145,0.00006550959,8.090465e-7,0.00009165433,0.000003344297,0.9948277,0.0005966974],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.005060219,0.9916226,0.0001740687,0.0004782006,0.0002699156,0.0008669112,0.00007624974,0.00002646224,0.001425394],"genre_scores_gemma":[0.0006383869,0.991056,0.001181797,0.0004371686,0.000258586,0.000219196,0.003717623,0.0000851142,0.002406172],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.8453295,"threshold_uncertainty_score":0.9998829,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008669586488145671,"score_gpt":0.2847500821581693,"score_spread":0.2760804956700236,"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."}}