{"id":"W1739208568","doi":"10.1111/cge.12434","title":"Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases","year":2014,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; University of Toronto; Sunnybrook Health Science Centre; University of Calgary","funders":"","keywords":"Osteogenesis imperfecta; Medicine; Dysplasia; Nosology; Osteochondrodysplasia; Pathology; Achondroplasia; Population; Pediatrics","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":[0.0004230356,0.0001563594,0.0004117823,0.0001640497,0.00002582812,0.000007851444,0.0002153392,0.000294431,0.00001351393],"category_scores_gemma":[0.0009649287,0.0001565921,0.0002182385,0.0002168636,0.0005475777,0.000001599832,0.0002943004,0.0001804986,0.000002193241],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007949806,"about_ca_system_score_gemma":0.00004579599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002046955,"about_ca_topic_score_gemma":0.0004136009,"domain_scores_codex":[0.9980611,0.0005327524,0.0004877499,0.0005355289,0.0001048593,0.0002780705],"domain_scores_gemma":[0.9990299,0.0001834222,0.00009829941,0.0004596756,0.0001160066,0.0001127033],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000689298,0.0001597714,0.937605,0.00003007973,0.0003344851,0.00007513646,0.00007053403,0.000109757,0.03215817,0.00002689793,0.00004459107,0.02931659],"study_design_scores_gemma":[0.001921244,0.001444575,0.9785228,0.00001258955,0.0003189562,0.00007600623,0.0003138349,0.00164054,0.01244394,0.00005872412,0.002952383,0.0002943853],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931858,0.005367709,0.000856847,0.00009235067,0.00006516922,0.0001799449,0.00005420831,0.00000468453,0.0001932646],"genre_scores_gemma":[0.9981166,0.0008157277,0.0005736312,0.000182356,0.00004978921,0.00001258921,0.0002151163,0.0000175588,0.0000166938],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04091777,"threshold_uncertainty_score":0.6385642,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01842631562630067,"score_gpt":0.356624100719293,"score_spread":0.3381977850929924,"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."}}