{"id":"W1599796644","doi":"10.1016/j.ajo.2015.05.007","title":"Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome","year":2015,"lang":"en","type":"article","venue":"American Journal of Ophthalmology","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Retina France; Moorfields Eye Hospital NHS Foundation Trust; Fight for Sight UK; National Institute for Health and Care Research; Ministry of Health, British Columbia; Ministère des Affaires Sociales et de la Santé","keywords":"Bardet–Biedl syndrome; Retinal degeneration; Degeneration (medical); Medicine; Retinal Disorder; Ophthalmology; Retinal; Biology; Phenotype; Genetics; Gene","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":[0.0002972696,0.00144076,0.0007171825,0.002192809,0.0009399743,0.0008270236,0.0007034326,0.001211923,0.002982941],"category_scores_gemma":[0.002021587,0.0004777373,0.0003942545,0.0008999804,0.0008697055,0.0006146858,0.0007060499,0.0005870353,0.0005009192],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003282978,"about_ca_system_score_gemma":0.000481003,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001403297,"about_ca_topic_score_gemma":0.001326555,"domain_scores_codex":[0.9994217,0.00006651313,0.00009235278,0.0001819496,0.0001215564,0.0001159313],"domain_scores_gemma":[0.9990594,0.0002591696,0.0002892128,0.00007089703,0.00008748155,0.0002338077],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007013294,0.0001068131,0.2368608,0.0001216063,0.00008689644,0.7280759,0.0006456483,0.0002353245,0.02588053,0.0005105035,0.000679931,0.006094747],"study_design_scores_gemma":[0.00004896588,0.0002159209,0.2169776,0.00002624081,0.00009355776,0.7789466,0.0003648892,0.000476039,0.001989209,0.0003511109,0.0004803732,0.00002960915],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964094,0.0005894615,0.0003713784,0.0001705622,0.00002565676,0.00002208084,0.0001727649,0.00005435402,0.002184406],"genre_scores_gemma":[0.9993731,0.0001181762,0.0001687944,0.00006204496,0.000027659,0.000004955525,0.00006137014,0.000009708963,0.0001742174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002982941,"threshold_uncertainty_score":0.00997895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006552874489180573,"score_gpt":0.2244456643987656,"score_spread":0.2178927899095851,"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."}}