{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004236725,0.0005747081,0.0003868094,0.002127203,0.0008118048,0.0004698627,0.0003382379,0.0004871601,0.002824722],"category_scores_gemma":[0.002241089,0.0003558304,0.0003518273,0.0006191647,0.0005833121,0.0005528553,0.0008578582,0.0005185144,0.0005639239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003426741,"about_ca_system_score_gemma":0.0002221317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00197276,"about_ca_topic_score_gemma":0.002490239,"domain_scores_codex":[0.9995153,0.00007960793,0.00005924292,0.0001348883,0.00009524715,0.0001158452],"domain_scores_gemma":[0.9992666,0.0002361865,0.0001290412,0.00006846271,0.00008066178,0.0002191283],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009249763,0.0004425926,0.8412302,0.00008802094,0.00005756836,0.0594573,0.008531299,0.0002164911,0.0424094,0.001021353,0.0008443422,0.04477648],"study_design_scores_gemma":[0.0001007942,0.000769252,0.8871225,0.00002638614,0.00006913416,0.1007013,0.001381862,0.0003649205,0.002528415,0.0006059282,0.006280514,0.00004913585],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986779,0.0001941606,0.0001839644,0.00004187198,0.000008181245,0.00002062465,0.00005974004,0.000006459374,0.0008070315],"genre_scores_gemma":[0.9975885,0.0003004675,0.0006572947,0.00005035006,0.00003285126,0.00007350678,0.0002155062,0.00001068783,0.001070942],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002824722,"threshold_uncertainty_score":0.009449661,"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."}}