{"id":"W2902757858","doi":"10.1136/jmedgenet-2018-105625","title":"Kabuki syndrome: international consensus diagnostic criteria","year":2018,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":248,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Kabuki syndrome; Palpebral fissure; Medicine; Hypotonia; Dermatology; Genetic counseling; Intellectual disability; Genetic testing; Pediatrics; Genetics; Surgery; Biology; 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":[0.005888628,0.001407379,0.001486465,0.008777922,0.001236037,0.001535394,0.002952979,0.002876213,0.003836153],"category_scores_gemma":[0.01342314,0.0003541719,0.001500561,0.003091868,0.001095281,0.001291707,0.002443883,0.001681827,0.001733207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002436282,"about_ca_system_score_gemma":0.007128192,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009218211,"about_ca_topic_score_gemma":0.007806993,"domain_scores_codex":[0.9958462,0.0009341196,0.00133489,0.0003943144,0.001050929,0.0004394067],"domain_scores_gemma":[0.9909884,0.001405075,0.001001192,0.0002285495,0.00567386,0.0007028606],"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":[0.0005092002,0.0001591074,0.05558745,0.00889772,0.0004669974,0.009663472,0.001334927,0.002428436,0.005219854,0.01674663,0.402479,0.4965072],"study_design_scores_gemma":[0.0006827379,0.0002948571,0.09193132,0.03135688,0.001302856,0.08235203,0.003212504,0.004889928,0.004400866,0.0279952,0.7512589,0.0003219053],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.07723989,0.5259589,0.07527443,0.09286463,0.01297678,0.00627635,0.01513162,0.001747568,0.1925299],"genre_scores_gemma":[0.4498818,0.211851,0.2202381,0.02129364,0.004109559,0.008301482,0.06072285,0.000425429,0.02317604],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.009218211,"threshold_uncertainty_score":0.03114241,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01066148731641824,"score_gpt":0.302807591043505,"score_spread":0.2921461037270868,"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."}}