{"id":"W2053941752","doi":"10.1002/ajmg.c.31343","title":"Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology","year":2012,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":215,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ministry of Agriculture; McMaster University Medical Centre","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Microcephaly; Syndactyly; Polydactyly; Endocrinology; Internal medicine; Biology; Phenotype; Medicine; Physiology; Genetics; Gene; 7-Dehydrocholesterol reductase; Reductase","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","sts","research_integrity","insufficient_payload"],"consensus_categories":["research_integrity"],"category_scores_codex":[0.007567661,0.001012797,0.007181168,0.0007611481,0.00005490919,0.00001362179,0.001378363,0.001549882,0.0009630984],"category_scores_gemma":[0.004636551,0.000745651,0.0008747507,0.0006647886,0.003497156,0.00004303752,0.0004632838,0.005628296,0.00003918664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004733349,"about_ca_system_score_gemma":0.003860977,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001718626,"about_ca_topic_score_gemma":0.000008570636,"domain_scores_codex":[0.9880053,0.00181742,0.004300453,0.0007856744,0.003677688,0.0014135],"domain_scores_gemma":[0.989728,0.00259012,0.002422784,0.0008573915,0.0002501552,0.004151594],"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":[0.00008912234,0.0003820189,0.001356748,0.003078654,0.0004438464,0.001556174,0.0003120594,5.070277e-7,4.011317e-7,0.00001886779,0.006652365,0.9861093],"study_design_scores_gemma":[0.001945836,0.001307612,0.001149834,0.02358957,0.002744074,0.02538217,0.0001037402,0.0001005539,3.051257e-7,0.0000233577,0.9430723,0.0005807084],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00906478,0.9831342,0.0001234404,0.001362163,0.005634456,0.0005160255,0.00001170026,0.00002074796,0.0001324677],"genre_scores_gemma":[0.0006736441,0.987371,0.004383774,0.003286482,0.003675736,0.00002919807,0.00003808159,0.000162934,0.0003791123],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9855285,"threshold_uncertainty_score":0.9999502,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05387164042789371,"score_gpt":0.3666292719166758,"score_spread":0.3127576314887821,"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."}}