{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001546834,0.00006853987,0.00009013139,0.0000186386,0.00003318284,0.0000103972,0.0001375916,0.00001075666,0.000004380938],"category_scores_gemma":[0.00003631347,0.00004155298,0.00001100921,0.0001299027,0.00003710655,0.00000211795,0.00003187947,0.0000377712,9.510494e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007638026,"about_ca_system_score_gemma":0.00008105537,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.05270427,"about_ca_topic_score_gemma":0.2540729,"domain_scores_codex":[0.9993801,0.0001934093,0.000124924,0.000137501,0.00007175652,0.00009229119],"domain_scores_gemma":[0.9996558,0.00007303905,0.00003681636,0.0001713654,0.00004664401,0.00001630061],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.002362507,0.003238967,0.05408162,0.0002162035,0.0007822069,0.001633864,0.7012335,0.008862955,0.2052433,0.001987694,0.000684082,0.01967308],"study_design_scores_gemma":[0.003060464,0.002204414,0.1659923,0.0000971183,0.00002446445,0.00007478187,0.7179937,0.00005164012,0.006572727,0.002183917,0.101189,0.0005554792],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932326,0.005981164,0.000006115851,0.0004720434,0.00003335933,0.0002071071,0.00005283128,6.336667e-7,0.00001413753],"genre_scores_gemma":[0.9948745,0.004344862,0.00001324629,0.0006158728,0.00001280209,0.00003075581,0.00008155768,0.000005319338,0.00002112794],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2013686,"threshold_uncertainty_score":0.9536039,"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."}}