{"id":"W3203177393","doi":"10.1002/jmd2.12243","title":"Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development","year":2021,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Polymicrogyria; Schizencephaly; Medicine; Pediatrics; Megalencephaly; Neuropathology; Magnetic resonance imaging; White matter; Pathology; Radiology; Disease","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":[0.0001886318,0.0001827296,0.0001974066,0.00004582127,0.00007865074,0.00004625572,0.00006193322,0.00009972721,0.0001005659],"category_scores_gemma":[0.00002713889,0.0001566666,0.00003372903,0.00009598627,0.0001058418,0.000007163862,0.00006797722,0.0001188655,0.000003573522],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004575783,"about_ca_system_score_gemma":0.000319958,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003949366,"about_ca_topic_score_gemma":0.0007102222,"domain_scores_codex":[0.998498,0.00007929707,0.0003757731,0.0005212646,0.0002092961,0.0003164068],"domain_scores_gemma":[0.9993331,0.000004174636,0.00006236144,0.0003620379,0.00009203656,0.0001462248],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007632587,0.0002376419,0.9020029,0.00004081738,0.00001356327,0.0006141243,0.0001905283,0.00001761471,0.09467655,0.000002831491,0.0001225619,0.002004535],"study_design_scores_gemma":[0.000617902,0.00009695056,0.8039168,0.00003478999,0.00002108799,0.00136416,0.0001552595,0.000003883634,0.1865297,0.000007916198,0.006970481,0.0002811291],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978081,0.0009471529,0.0003985139,0.00007758002,0.000106603,0.0002006162,0.000006936336,0.000007178581,0.0004472909],"genre_scores_gemma":[0.9975619,0.00008663024,0.001322605,0.0005958151,0.00004196289,0.00003390012,0.0001750131,0.00001841213,0.0001637624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09808616,"threshold_uncertainty_score":0.638868,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004767481251757852,"score_gpt":0.2226975376181415,"score_spread":0.2179300563663836,"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."}}