{"id":"W90965184","doi":"10.1002/humu.22924","title":"Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update","year":2015,"lang":"en","type":"review","venue":"Human Mutation","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Alberta Children's Hospital; Newborn Screening Ontario; University Health Network; University of Toronto; Mount Sinai Hospital; University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"NIH Clinical Center; Genome Canada; Canadian Institutes of Health Research; Ontario Genomics; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Ontario Genomics Institute; World Health Organization","keywords":"Microcephaly; Biology; Missense mutation; Treacher Collins syndrome; Haploinsufficiency; Genetics; Craniofacial; Hearing loss; Mutation; Gene; Medicine; Audiology; Phenotype","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":[0.00008345929,0.0002935528,0.0004063582,0.00008292068,0.0001386736,0.00005988723,0.00007743009,0.000181068,0.000020723],"category_scores_gemma":[0.000008742897,0.000243508,0.00007498467,0.00008433346,0.00006468895,0.000009090976,0.00004892385,0.00007651897,0.00003317344],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000283733,"about_ca_system_score_gemma":0.0001040288,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003765263,"about_ca_topic_score_gemma":0.0001233149,"domain_scores_codex":[0.9989849,0.00005839645,0.0002297499,0.0004398697,0.0001311047,0.0001560161],"domain_scores_gemma":[0.9994332,0.000003291282,0.0001982835,0.0002074545,0.00007913537,0.000078612],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005743416,0.0001359295,0.0000574223,0.00234954,0.0004014926,0.0000909267,0.0001202636,0.000001949942,0.0001313785,0.0001158875,0.001455089,0.9950827],"study_design_scores_gemma":[0.001191717,0.0003737169,0.00007157114,0.0005618424,0.001000741,0.0001450255,0.00004890076,0.000001549117,0.00005260703,0.0001027044,0.9959984,0.0004512608],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.007825066,0.9903995,0.0003186406,0.000007179803,0.00005444121,0.0006423676,0.0003365281,0.00001749287,0.0003987685],"genre_scores_gemma":[0.003593948,0.9719048,0.0002782005,0.00003265672,0.0001196651,0.000106723,0.02359253,0.00006061345,0.0003108353],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9946314,"threshold_uncertainty_score":0.992997,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02844885436756163,"score_gpt":0.330212343365142,"score_spread":0.3017634889975804,"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."}}