{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001495124,0.000875748,0.002099954,0.01236974,0.0005425659,0.002624678,0.001930599,0.001742137,0.01156279],"category_scores_gemma":[0.006660379,0.0003958285,0.001035314,0.01475958,0.0003911964,0.002384914,0.001700598,0.001121466,0.005399472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000780655,"about_ca_system_score_gemma":0.002802607,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003428561,"about_ca_topic_score_gemma":0.007256197,"domain_scores_codex":[0.9987632,0.000118626,0.0005259737,0.0001914384,0.0003257043,0.00007493327],"domain_scores_gemma":[0.9945238,0.001744223,0.001779013,0.0003640065,0.001150244,0.0004387435],"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":[0.0009453259,0.000234714,0.04597611,0.03521672,0.002034609,0.006866186,0.0005605172,0.000703637,0.006596157,0.003574492,0.3831994,0.5140921],"study_design_scores_gemma":[0.0001822187,0.00009670368,0.06831193,0.006967179,0.002481923,0.01790951,0.0002380527,0.0004500071,0.001970616,0.001604963,0.8996823,0.0001045897],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"review","genre_scores_codex":[0.04602296,0.4477277,0.004967513,0.006756603,0.001472352,0.0005669867,0.4639632,0.002510861,0.02601182],"genre_scores_gemma":[0.05964893,0.296729,0.01461651,0.003783731,0.001078788,0.0008324891,0.6159598,0.0004813682,0.006869431],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.01236974,"threshold_uncertainty_score":0.03868139,"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."}}