{"id":"W2037102555","doi":"10.1002/ajmg.a.20375","title":"Long‐term follow‐up of three individuals with Kabuki syndrome","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital","funders":"","keywords":"Kabuki; Palpebral fissure; Kabuki syndrome; Term (time); Short stature; Psychology; Medicine; Developmental psychology; Pediatrics; Gerontology; Demography; Surgery; Art","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":[0.0005915677,0.0007265841,0.0008597251,0.00106616,0.003127945,0.0008967184,0.0006143197,0.001465833,0.0009441534],"category_scores_gemma":[0.002289389,0.000455115,0.001165582,0.0006997172,0.0009949517,0.0007033032,0.0008666076,0.00190834,0.0007505475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009177668,"about_ca_system_score_gemma":0.0004100949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01472155,"about_ca_topic_score_gemma":0.01026037,"domain_scores_codex":[0.9994633,0.0000627927,0.00006012982,0.0001169265,0.0001198317,0.0001770335],"domain_scores_gemma":[0.9985138,0.0001954592,0.000200489,0.0001830438,0.0003287243,0.0005785496],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001604803,0.001678152,0.7955918,0.00008233883,0.0004166299,0.1168004,0.01080638,0.0005622706,0.02968585,0.0004115077,0.001546202,0.04081372],"study_design_scores_gemma":[0.0001238125,0.002065127,0.8968711,0.00004613857,0.0003298669,0.09193467,0.001772763,0.0004204582,0.002801244,0.0004139483,0.003088627,0.0001321871],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979949,0.0003308722,0.0003918592,0.0001337042,0.00002445292,0.00002162959,0.0001244982,0.00002320986,0.0009548787],"genre_scores_gemma":[0.9980022,0.0001540332,0.0002709133,0.0001285427,0.00001451643,0.00002210264,0.0003333406,0.00001337929,0.001060934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01472155,"threshold_uncertainty_score":0.02927172,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009887867343895402,"score_gpt":0.2532225956359535,"score_spread":0.2433347282920581,"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."}}