{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001016533,0.0004516338,0.0002756129,0.0008694735,0.0005146413,0.000354211,0.0001906113,0.0008791132,0.001344582],"category_scores_gemma":[0.001369597,0.0001930456,0.0001315211,0.0002415812,0.0006612738,0.0002663085,0.0004172565,0.0007588356,0.0001399252],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004610632,"about_ca_system_score_gemma":0.0006073878,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004738112,"about_ca_topic_score_gemma":0.007174235,"domain_scores_codex":[0.9998565,0.00001835102,0.00001297471,0.00003403595,0.00004136323,0.00003673971],"domain_scores_gemma":[0.9996841,0.0001440182,0.0000661173,0.00001199828,0.00001880652,0.00007489864],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00005290973,0.00002329531,0.03338326,0.00004173857,0.000007774293,0.9385521,0.0002651434,0.000215354,0.01449467,0.0006199676,0.0004348464,0.01190898],"study_design_scores_gemma":[0.000008135304,0.00004709271,0.02801542,0.00007810453,0.00001921142,0.9615017,0.0001763036,0.0006571108,0.006860511,0.0005135687,0.002108434,0.00001452158],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.97626,0.003256427,0.006270735,0.003855077,0.0001116049,0.00007380293,0.0002307811,0.0001298025,0.009811647],"genre_scores_gemma":[0.993984,0.001561308,0.003417053,0.0002013876,0.00006073969,0.00000993662,0.00005115888,0.00001468693,0.0006996121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004738112,"threshold_uncertainty_score":0.00942111,"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."}}