{"id":"W1992100084","doi":"10.1002/pd.2228","title":"Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings","year":2009,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Michael's Hospital; North York General Hospital; Lakeridge Health; Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"Cornelia de Lange Syndrome; Medicine; Autopsy; Prenatal diagnosis; Obstetrics; Pregnancy; Pediatrics; Fetus; Pathology; Biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009068866,0.0001597131,0.0001329723,0.00003403701,0.00007168614,0.00005437466,0.0001841439,0.0001470827,0.00002999215],"category_scores_gemma":[0.00005868955,0.0001622389,0.00006152986,0.00005123877,0.00004627532,0.000006721489,0.0001202135,0.00008629606,0.00001331702],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002090464,"about_ca_system_score_gemma":0.00002768213,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002796746,"about_ca_topic_score_gemma":0.00001786761,"domain_scores_codex":[0.9991567,0.00001946449,0.0001429946,0.000318188,0.00008181567,0.0002808247],"domain_scores_gemma":[0.9995628,0.00001570759,0.0000411675,0.0002367251,0.00002279964,0.0001207763],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003570041,0.001683047,0.6070646,0.0008548703,0.0006935561,0.000754958,0.001981743,0.0005184814,0.2591881,0.00585994,0.03062259,0.09042113],"study_design_scores_gemma":[0.001606799,0.001371747,0.8005053,0.0001801083,0.00009585125,0.0008920654,0.0000886542,0.002005698,0.1834805,0.00183386,0.006993051,0.0009463446],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975942,0.001086625,0.0001140829,0.0002284748,0.00006610633,0.0001460132,0.0001287097,0.00002608886,0.0006096966],"genre_scores_gemma":[0.9973499,0.0006327752,0.001088222,0.0003651576,0.00005859386,0.00004018427,0.0002044714,0.00001793689,0.0002427262],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1934407,"threshold_uncertainty_score":0.661591,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005334204331825933,"score_gpt":0.2153273358479082,"score_spread":0.2099931315160823,"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."}}