{"id":"W4323306088","doi":"10.1159/000529777","title":"Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey","year":2023,"lang":"en","type":"article","venue":"Ophthalmic Research","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Third Health Programme; Všeobecná Fakultní Nemocnice v Praze; Moorfields Eye Hospital NHS Foundation Trust; Rheinische Friedrich-Wilhelms-Universität Bonn; Università degli Studi di Padova; Leids Universitair Medisch Centrum; Universiteit Leiden; National Institute for Health and Care Research; University of Bern; European Commission; Universität zu Köln; Lietuvos Sveikatos Mokslų Universitetas; Inselspital, Universitätsspital Bern; Novartis Pharma; Università degli Studi di Udine; Università degli Studi di Milano; Universitätsklinikum Hamburg-Eppendorf; Queen's University; Universität Heidelberg","keywords":"RPE65; Multinational corporation; Retinal; Authorization; Medicine; Optometry; Ophthalmology; Business; Retinal pigment epithelium","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001599406,0.0002303731,0.0003472925,0.00120295,0.0003150294,0.000761089,0.0003352581,0.0004746624,0.0008352526],"category_scores_gemma":[0.003135639,0.0001616998,0.0006053751,0.001612756,0.0002097051,0.0009035867,0.0006279027,0.0003694684,0.0002693014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000481222,"about_ca_system_score_gemma":0.0003575106,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007281884,"about_ca_topic_score_gemma":0.005616209,"domain_scores_codex":[0.9989018,0.0002962715,0.0002270856,0.0002268338,0.0001904721,0.0001574432],"domain_scores_gemma":[0.996812,0.0003332525,0.001950082,0.0001360016,0.0004717832,0.0002967859],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003336414,0.00002505918,0.9984794,0.000009260196,0.00003206603,0.00003955746,0.00007824413,0.00001934267,0.00003617028,0.000005165142,0.0001614144,0.001080898],"study_design_scores_gemma":[0.000003105636,0.00004982903,0.9991184,0.00001597775,0.00001953534,0.0001464118,0.0002687558,0.00004117022,0.00002212154,0.000004500809,0.0003072,0.000003024067],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961789,0.0008425615,0.00008083211,0.0001295792,0.000008416508,0.00001615667,0.002078821,0.000006175114,0.0006586352],"genre_scores_gemma":[0.9962902,0.0006034468,0.000121562,0.0001582785,0.00001703223,0.00003550519,0.002549625,0.000004961286,0.0002194495],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007281884,"threshold_uncertainty_score":0.01447898,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05865908635232033,"score_gpt":0.3563541733996971,"score_spread":0.2976950870473768,"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."}}