{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004728204,0.0001643543,0.0003848548,0.00006825702,0.00003572035,0.00001433069,0.0004194009,0.00009294778,0.000118026],"category_scores_gemma":[0.0001718361,0.000121207,0.0001702716,0.0001483023,0.0004726827,0.000002337219,0.00006476095,0.0001563947,0.000002730936],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007834408,"about_ca_system_score_gemma":0.0005781646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004441301,"about_ca_topic_score_gemma":0.00001970233,"domain_scores_codex":[0.9982402,0.00009411613,0.0004848928,0.0001840719,0.0007342031,0.0002624823],"domain_scores_gemma":[0.9985695,0.00002815616,0.0004901502,0.0002815437,0.0001826066,0.0004479882],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005066732,0.0008518797,0.922144,0.00008164648,0.001981435,0.0009952574,0.0002883793,0.0001916989,0.01164262,0.0001338469,0.002955215,0.05822738],"study_design_scores_gemma":[0.01807174,0.03956024,0.7255656,0.001537208,0.001680032,0.02228413,0.0014974,0.00003770662,0.06443912,0.0007152179,0.1223511,0.002260512],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936592,0.003820331,0.001948935,0.0001539661,0.0002211192,0.00007620712,0.000017277,0.000001765211,0.0001011888],"genre_scores_gemma":[0.9964082,0.00182117,0.00131884,0.0002606017,0.0001072498,0.000002871469,0.00001169845,0.00002488083,0.00004452498],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1965784,"threshold_uncertainty_score":0.4942679,"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."}}