{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003965933,0.0002595878,0.00048481,0.0006926321,0.0002013608,0.0005309694,0.0001898043,0.0004368178,0.001773701],"category_scores_gemma":[0.0008504947,0.00006843553,0.0003278452,0.0006367168,0.00022383,0.0003914055,0.0002333427,0.0004929753,0.0005119384],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004797088,"about_ca_system_score_gemma":0.0007941618,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001003192,"about_ca_topic_score_gemma":0.001738653,"domain_scores_codex":[0.9997279,0.0000798862,0.00004559912,0.00003244532,0.00008843407,0.00002563254],"domain_scores_gemma":[0.9995854,0.000154926,0.0001260517,0.000008103187,0.00008882732,0.00003665483],"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":[0.0004113443,0.00005761407,0.0097166,0.01741428,0.0005048555,0.01281924,0.0001258984,0.000541391,0.01174879,0.003461708,0.06280985,0.8803884],"study_design_scores_gemma":[0.0001438856,0.000557454,0.04925385,0.01402509,0.001150751,0.1616671,0.000721115,0.00072326,0.006376822,0.005216686,0.7600839,0.00008015789],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.009736782,0.9797753,0.0007185953,0.003835197,0.0004118085,0.00001529096,0.0001550921,0.00004808337,0.005303825],"genre_scores_gemma":[0.1121586,0.8786004,0.001740592,0.003210773,0.001323092,0.00002703422,0.000470886,0.00001861105,0.002450031],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.001773701,"threshold_uncertainty_score":0.005933642,"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."}}