{"id":"W3214922391","doi":"10.1007/s12325-021-01953-x","title":"A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada","year":2021,"lang":"en","type":"article","venue":"Advances in Therapy","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Kabuki syndrome; Medicine; Psychosocial; Quality of life (healthcare); Presentation (obstetrics); Gerontology; Psychiatry; Developmental psychology; Pediatrics; Psychology; Nursing","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004905794,0.0005078011,0.0008134553,0.002260657,0.0249006,0.004559649,0.001868731,0.001334109,0.003689651],"category_scores_gemma":[0.007222137,0.0004336805,0.0004315832,0.002812605,0.008854571,0.001815478,0.005146753,0.002613603,0.0002302932],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.060281,"about_ca_system_score_gemma":0.08010133,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9382896,"about_ca_topic_score_gemma":0.9637352,"domain_scores_codex":[0.9955835,0.001960732,0.0001529826,0.0003513049,0.0006051608,0.001346405],"domain_scores_gemma":[0.9916677,0.002150005,0.0006027254,0.0001603338,0.002427105,0.002992109],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.00003114091,0.00005529387,0.0206057,0.0001318259,0.000007281233,0.001061022,0.9716593,0.00003397236,0.0003674822,0.001086084,0.001792734,0.003168226],"study_design_scores_gemma":[0.00000219735,0.00001349438,0.006131404,0.0001041783,0.000001937758,0.00009015352,0.9891236,0.00004198566,0.00003351576,0.00005632894,0.004390209,0.00001103096],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864581,0.0008364888,0.0004101572,0.003330493,0.00007964192,0.0003355275,0.0003932045,0.00001002343,0.008146251],"genre_scores_gemma":[0.9947203,0.0009244396,0.000359757,0.001476883,0.00001018421,0.0001972124,0.0001162025,0.00001356924,0.002181429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06171036,"threshold_uncertainty_score":0.4373714,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01393103972642584,"score_gpt":0.3117162852945852,"score_spread":0.2977852455681594,"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."}}