{"id":"W4411391623","doi":"10.1002/pd.6838","title":"Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome","year":2025,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Moyamoya disease diagnosis and treatment","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"Polymicrogyria; Exome sequencing; Encephalocele; Medicine; Neuroimaging; Cortical dysplasia; Dysplasia; Pathology; Prenatal diagnosis; Fetus; Anatomy; Magnetic resonance imaging; Pregnancy; Biology; Genetics; Radiology; Mutation; Psychiatry","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"],"consensus_categories":[],"category_scores_codex":[0.0001414454,0.0004536293,0.0006523222,0.0003226091,0.0002201547,0.00007904605,0.0001749146,0.0002261735,0.0002291893],"category_scores_gemma":[0.0002156929,0.0004193971,0.0003650476,0.0002776638,0.0001646274,0.0002070762,0.0001951232,0.0001727562,0.00003882571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001678166,"about_ca_system_score_gemma":0.0001606641,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002253506,"about_ca_topic_score_gemma":0.00003557354,"domain_scores_codex":[0.9977625,0.00004751726,0.0004405928,0.0008562958,0.0002844041,0.000608694],"domain_scores_gemma":[0.998419,0.0004382144,0.00009633358,0.0005238092,0.0001106908,0.0004118881],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009145305,0.002252187,0.9566352,0.002061225,0.002211332,0.001518039,0.0001339253,0.000002317772,0.00008000731,0.001246268,0.009306215,0.02363879],"study_design_scores_gemma":[0.009236678,0.00126789,0.9604027,0.001680213,0.002297416,0.0003646654,0.0001398422,0.0002481554,0.01801896,0.0002427501,0.005517151,0.0005835679],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9805729,0.0119164,0.00004615496,0.001734335,0.0003327455,0.002282954,0.001210325,0.000139554,0.001764665],"genre_scores_gemma":[0.9936568,0.00075865,0.0007805417,0.0005386275,0.0000666614,0.002644688,0.0005460128,0.0000543078,0.0009537168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02305522,"threshold_uncertainty_score":0.9998258,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005830397251335977,"score_gpt":0.2500848307995306,"score_spread":0.2442544335481946,"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."}}