{"id":"W1534783246","doi":"10.1111/j.1399-0004.2006.00551.x","title":"Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies","year":2005,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Amniotic fluid; Prenatal diagnosis; Chorionic villus sampling; Endocrinology; Urinary system; Gestation; Fetus; Internal medicine; Pregnancy; Urine; Medicine; Sterol; Biology; Physiology; Reductase; Cholesterol; Enzyme; 7-Dehydrocholesterol reductase; Genetics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003745849,0.0005839254,0.000429407,0.00142271,0.0003988046,0.000491976,0.0003263017,0.0006753989,0.001261868],"category_scores_gemma":[0.003211902,0.0004317515,0.0002600327,0.0004975615,0.00052298,0.000317095,0.0004890085,0.0003602252,0.000303602],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003513631,"about_ca_system_score_gemma":0.000215901,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00154587,"about_ca_topic_score_gemma":0.000815739,"domain_scores_codex":[0.999477,0.0001083158,0.00007181955,0.0001348444,0.0001241482,0.00008388473],"domain_scores_gemma":[0.9986587,0.0005543689,0.000268758,0.0001223748,0.0001125442,0.0002833103],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003212833,0.00009448584,0.9287305,0.00002316577,0.00003766012,0.05322973,0.0007025537,0.0001129278,0.007640617,0.00004828816,0.0001363732,0.008922251],"study_design_scores_gemma":[0.00002860318,0.0008057809,0.7547515,0.00001736933,0.00009782403,0.236542,0.0005651417,0.0005844441,0.005664875,0.00009543317,0.0008125675,0.0000344594],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991485,0.0002113219,0.0001754597,0.00002312955,0.000004187639,0.00000637331,0.00005750746,0.00001144498,0.0003621066],"genre_scores_gemma":[0.9995238,0.0001124908,0.0001702564,0.00001582598,0.00001159469,0.00000411673,0.00007429812,0.000004600681,0.00008314696],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00154587,"threshold_uncertainty_score":0.00422132,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04237676730360986,"score_gpt":0.3331270645561838,"score_spread":0.290750297252574,"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."}}