{"id":"W1994073345","doi":"10.1002/ajmg.a.30340","title":"Further delineation of Kabuki syndrome in 48 well‐defined new individuals","year":2004,"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":103,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of General Medical Sciences; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Kabuki syndrome; Kabuki; Etiology; Medicine; Gene duplication; Pediatrics; Genetics; Biology; Gene; Pathology","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":[0.0003752512,0.0001172621,0.0002847066,0.00009515257,0.00001351054,0.000008425377,0.0003147906,0.00009503966,0.00008428243],"category_scores_gemma":[0.0001767384,0.00009990959,0.0001246077,0.0001623418,0.0001766377,0.000002239581,0.00006570765,0.000131018,0.00000702432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001418999,"about_ca_system_score_gemma":0.000695908,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005397486,"about_ca_topic_score_gemma":0.00003090944,"domain_scores_codex":[0.9985493,0.00005539344,0.0005775475,0.0001398951,0.0004908722,0.0001869392],"domain_scores_gemma":[0.9990269,0.00001567229,0.0003772186,0.0001667358,0.00009970109,0.0003137629],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001376663,0.003735693,0.2514167,0.0001598045,0.001815776,0.001500505,0.003100615,0.02824624,0.1226224,0.0004038138,0.01702926,0.5685925],"study_design_scores_gemma":[0.03638971,0.02667202,0.3999691,0.00278612,0.0009803658,0.008357519,0.006008399,0.0004951784,0.1119011,0.005610158,0.3977414,0.003088901],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920627,0.003065447,0.002869528,0.001733874,0.0001629792,0.00006057496,0.000008248894,0.000001383842,0.00003530633],"genre_scores_gemma":[0.9936408,0.003037296,0.002565322,0.0004729698,0.0002048949,0.000001292482,0.00001754142,0.00001658048,0.00004332659],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5655037,"threshold_uncertainty_score":0.4074195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007991457053333631,"score_gpt":0.2616617079510161,"score_spread":0.2536702508976824,"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."}}