{"id":"W4409738277","doi":"10.1093/hmg/ddaf058","title":"Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome","year":2025,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Canada Research Chairs; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; National Eye Institute; Hospital for Sick Children; University of Toronto; National Institutes of Health; Foundation Fighting Blindness","keywords":"Ciliopathy; Bardet–Biedl syndrome; Cilium; Biology; Intraflagellar transport; Retinal degeneration; Ciliogenesis; Ciliopathies; Dystrophy; Cell biology; Retinal; Retina; Genetics; Neuroscience; Gene; Biochemistry; Phenotype","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":[0.0001931231,0.001806057,0.0007843807,0.001607014,0.0008171935,0.0004605844,0.0007383736,0.002205729,0.002438533],"category_scores_gemma":[0.0008658321,0.0004177998,0.0005650524,0.0006554011,0.0008401057,0.0003681796,0.0008968585,0.0008057887,0.0006300969],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004903664,"about_ca_system_score_gemma":0.0003408618,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001213186,"about_ca_topic_score_gemma":0.0009023091,"domain_scores_codex":[0.9997444,0.00001986575,0.00002988848,0.00009330423,0.00005807242,0.00005455534],"domain_scores_gemma":[0.9995603,0.00009261406,0.0001218562,0.00002275989,0.00003062873,0.0001718274],"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":[0.0004387595,0.00009533184,0.01749172,0.00009644786,0.00005753505,0.9045158,0.0003464143,0.0001344938,0.07295917,0.000502722,0.0003789692,0.002982748],"study_design_scores_gemma":[0.0001128238,0.000346966,0.04940087,0.00005037051,0.0001235376,0.9321009,0.0001681098,0.001244345,0.01360475,0.0003323978,0.002467015,0.00004791331],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951115,0.0008381783,0.001529076,0.0004124921,0.0001062832,0.00005646812,0.0003856827,0.000137102,0.001423181],"genre_scores_gemma":[0.9979572,0.0003367353,0.0006734929,0.0001163871,0.00005903966,0.00001291202,0.0002097094,0.00002729439,0.0006072105],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002438533,"threshold_uncertainty_score":0.00815773,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01055473948642313,"score_gpt":0.2739414477609037,"score_spread":0.2633867082744806,"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."}}