{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001962139,0.0001338482,0.0002676215,0.00004307942,0.00002801344,0.000008626257,0.0001974434,0.0000666783,0.00006047399],"category_scores_gemma":[0.0001081576,0.0001019845,0.0001082014,0.0001369768,0.0002590786,0.000002425895,0.00002522404,0.0001086861,7.826542e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004442873,"about_ca_system_score_gemma":0.0001857939,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008928183,"about_ca_topic_score_gemma":0.000004801516,"domain_scores_codex":[0.9985406,0.00009837448,0.0003592371,0.0001413007,0.0006705436,0.0001899143],"domain_scores_gemma":[0.9990548,0.00001201349,0.0003415519,0.0001627434,0.0001931489,0.0002356831],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001026579,0.002114243,0.7511196,0.00003597463,0.001702952,0.0001269223,0.0002012331,0.001160758,0.01190795,0.0002510505,0.0008946467,0.2294581],"study_design_scores_gemma":[0.03546658,0.06582528,0.6297892,0.0008390546,0.001509938,0.0002933386,0.004270409,0.0001401957,0.1364772,0.0005076848,0.1225047,0.002376396],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906297,0.0007599977,0.008169917,0.00005689413,0.00005769033,0.00007066299,0.000009725379,0.000001369912,0.0002440727],"genre_scores_gemma":[0.997393,0.0004303266,0.001938275,0.0001669207,0.00002884736,0.000001686212,0.00001091459,0.00001901293,0.00001103349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2270817,"threshold_uncertainty_score":0.4158807,"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."}}