{"id":"W2003495713","doi":"10.1002/ajmg.a.20258","title":"Screening of patients with craniosynostosis: Molecular strategy","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Hospital for Sick Children","keywords":"Craniosynostosis; Apert syndrome; Craniosynostoses; Medicine; Prenatal diagnosis; Dysostosis; Genetic testing; Genetic heterogeneity; Mutation; Genetics; Bioinformatics; Pediatrics; Surgery; Gene; Phenotype; Biology; Internal medicine; Fetus; Pregnancy; Congenital disease","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003098637,0.0004978983,0.0004238522,0.001409156,0.0003532488,0.0003926041,0.0002886821,0.0004616622,0.001501774],"category_scores_gemma":[0.0009359657,0.0001172599,0.0002107197,0.0005769157,0.0002786323,0.0002328606,0.0002895896,0.0002461253,0.0005428588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002846865,"about_ca_system_score_gemma":0.0004142559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001254301,"about_ca_topic_score_gemma":0.001255141,"domain_scores_codex":[0.9997687,0.00005265918,0.00002621283,0.00005090244,0.00005881271,0.00004273643],"domain_scores_gemma":[0.9998667,0.00004045316,0.00002092914,0.00000686867,0.00003274613,0.00003223088],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001308926,0.0004245761,0.6966596,0.000226384,0.00007745316,0.01519798,0.0004481006,0.0008835543,0.08977268,0.0008447127,0.002616155,0.1915399],"study_design_scores_gemma":[0.0002510463,0.00197641,0.804709,0.0002737261,0.0004250208,0.09198144,0.001449993,0.006529564,0.06557815,0.001775213,0.02498049,0.00007005313],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9734798,0.009150408,0.006900155,0.0017845,0.00005422474,0.0003875731,0.0003737565,0.0001449794,0.00772455],"genre_scores_gemma":[0.987683,0.0032487,0.006864023,0.0006368615,0.00005726374,0.0001529056,0.0003332398,0.00001451691,0.001009542],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001501774,"threshold_uncertainty_score":0.005023897,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005728065979863911,"score_gpt":0.2452772038509888,"score_spread":0.2395491378711249,"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."}}