{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003315139,0.00009283316,0.0001313922,0.00004816177,0.00003800078,0.00002745752,0.000431088,0.0001491983,0.0005602242],"category_scores_gemma":[0.001343317,0.00007611674,0.0001034285,0.0000383372,0.0002059732,0.000001043535,0.0001330425,0.0001087258,0.00001959432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000988186,"about_ca_system_score_gemma":0.0002691892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001540984,"about_ca_topic_score_gemma":0.00000434802,"domain_scores_codex":[0.99883,0.00004343217,0.0003570416,0.0001182555,0.0005015817,0.0001496887],"domain_scores_gemma":[0.9990236,0.0000507798,0.0001606464,0.0001446691,0.0003274638,0.0002928518],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008575864,0.001585012,0.03568816,0.0001039148,0.001716439,0.00675764,0.0003876819,0.00008579624,0.1914883,0.0002797232,0.6684641,0.09258569],"study_design_scores_gemma":[0.003584865,0.003465395,0.04065284,0.000336308,0.0001662378,0.01576937,0.0002478673,0.0006853467,0.02959597,0.000899926,0.9040721,0.0005237653],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915211,0.003074423,0.0007387177,0.002201102,0.002075529,0.00003889933,0.00001821707,0.000002127839,0.0003298946],"genre_scores_gemma":[0.9928266,0.00281743,0.001368222,0.0008346846,0.00203166,8.472269e-7,0.00001212392,0.00001356906,0.00009484095],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.235608,"threshold_uncertainty_score":0.6134062,"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."}}