{"id":"W2086264003","doi":"10.1002/ajmg.c.31341","title":"The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote","year":2012,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"McMaster University","keywords":"Smith–Lemli–Opitz syndrome; Philosophy; History; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":["research_integrity"],"category_scores_codex":[0.008024513,0.001083122,0.003306449,0.0003245453,0.0002571002,0.0000676618,0.003969087,0.001759641,0.000105294],"category_scores_gemma":[0.005244286,0.0007495107,0.001188265,0.0009263465,0.002393369,0.000005085782,0.001023332,0.003403405,0.00003635993],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005169536,"about_ca_system_score_gemma":0.00388638,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001004481,"about_ca_topic_score_gemma":0.00003372049,"domain_scores_codex":[0.9865623,0.002003427,0.00378356,0.00084431,0.005183672,0.001622764],"domain_scores_gemma":[0.9920607,0.001778559,0.002235705,0.00126881,0.0003776224,0.002278662],"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":[0.00005774429,0.0002907183,0.0001892816,0.0007424742,0.0006281531,0.0007657775,0.0001580716,0.000007016159,0.000005595614,0.000005276823,0.01145208,0.9856978],"study_design_scores_gemma":[0.0007483247,0.001949869,0.00002405105,0.007545203,0.0008554413,0.004277448,0.0001781297,0.00002537859,0.0000224145,0.0000176796,0.9835969,0.0007591382],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.003958323,0.990014,0.0007825369,0.0009460265,0.003713824,0.0004650661,0.00002101529,0.00001304704,0.00008613548],"genre_scores_gemma":[0.0007869019,0.9930979,0.001668265,0.0004910353,0.00327648,0.00007206327,0.00003332799,0.000204545,0.0003694789],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9849387,"threshold_uncertainty_score":0.9995363,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03497686806828625,"score_gpt":0.3427329134846447,"score_spread":0.3077560454163585,"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."}}