{"id":"W2966178841","doi":"10.1038/s41436-019-0623-x","title":"Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Fondation Maladies Rares; Ministère de la Santé et des Services sociaux","keywords":"Kabuki; Medicine; Patient registry; Kabuki syndrome; Pediatrics; Dermatology; Family medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0005530448,0.000469903,0.0007054657,0.001839145,0.001433684,0.0009262539,0.0006709411,0.0004109478,0.002159377],"category_scores_gemma":[0.001733504,0.0006019882,0.0004500141,0.002367841,0.000588742,0.001014301,0.0008186288,0.0004524023,0.0006876994],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004346044,"about_ca_system_score_gemma":0.0007354579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005490995,"about_ca_topic_score_gemma":0.004603619,"domain_scores_codex":[0.9991052,0.0001638934,0.0001233008,0.0003349493,0.0001509635,0.0001217221],"domain_scores_gemma":[0.9986904,0.0002224668,0.0005141138,0.000207059,0.0001426094,0.0002233915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009942159,0.00006110204,0.9958634,0.00001011858,0.00004209839,0.00139241,0.000571136,0.00002718139,0.0007723045,0.00004859804,0.0001044164,0.001007592],"study_design_scores_gemma":[0.00001772929,0.0001933233,0.991227,0.000009083902,0.00007992564,0.006116978,0.001387482,0.0001161975,0.0003070983,0.00005203292,0.000478694,0.00001454328],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992585,0.00006036292,0.00007493397,0.000008469324,0.000001556726,0.000007040291,0.0003114921,0.00000360325,0.0002740649],"genre_scores_gemma":[0.998863,0.0001320336,0.000107369,0.00001503623,0.00000537084,0.00001701441,0.0006136465,0.000006259406,0.0002402362],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005490995,"threshold_uncertainty_score":0.01091808,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01238103591903876,"score_gpt":0.2851774804002181,"score_spread":0.2727964444811793,"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."}}