{"id":"W4406108470","doi":"10.1002/jimd.12842","title":"Novel Insights Into Gyrate Atrophy of the Choroid and Retina (<scp>GACR</scp>): A Cohort Study","year":2025,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Retinal Diseases and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Newfoundland and Labrador; Grantová Agentura České Republiky; Amsterdam University Medical Centers; Stichting Metakids","keywords":"Choroid; Medicine; Macular degeneration; Retinal degeneration; Visual acuity; Cohort; Pediatrics; Retina; Internal medicine; Ornithine; Natural history study; Creatine; Ophthalmology; Disease; Physiology; Retinal; Psychology; Biology; Genetics; Neuroscience","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":[0.001010314,0.0006756216,0.0006159677,0.001063608,0.001197856,0.0009298349,0.0003891146,0.0005726001,0.001795659],"category_scores_gemma":[0.001778132,0.0003932221,0.001050007,0.001104245,0.0002503123,0.0005703048,0.0008167265,0.0007239842,0.0004334044],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003345132,"about_ca_system_score_gemma":0.000553569,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009200507,"about_ca_topic_score_gemma":0.008527934,"domain_scores_codex":[0.9991968,0.0001770354,0.00006926667,0.0003192651,0.0001080556,0.0001295718],"domain_scores_gemma":[0.9990947,0.0001110268,0.000234909,0.0002028385,0.0001410347,0.0002155319],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005299257,0.000121245,0.9922455,0.00002130341,0.0003863273,0.001203071,0.0004420917,0.00004638247,0.001322646,0.00007102112,0.0004676027,0.003142895],"study_design_scores_gemma":[0.00004939522,0.0004404764,0.9942121,0.00001683493,0.0002914378,0.002593567,0.0006381597,0.000239671,0.0001676999,0.00008025071,0.001249678,0.00002078091],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980563,0.0003920053,0.0002946577,0.00005438289,0.00001531944,0.00003079603,0.0007876484,0.000006231821,0.0003625946],"genre_scores_gemma":[0.9979759,0.0002327735,0.0003261096,0.00005580131,0.00002711402,0.00003761401,0.0008936186,0.00001290509,0.0004381054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009200507,"threshold_uncertainty_score":0.01829392,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007272768040236179,"score_gpt":0.2681636689045389,"score_spread":0.2608909008643027,"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."}}