{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003166624,0.0001202259,0.0002388923,0.0001165128,0.00001469278,0.000003546301,0.000245735,0.000104301,0.00005640274],"category_scores_gemma":[0.00007487118,0.0001034148,0.00002595788,0.0001363127,0.00008040728,0.000001116172,0.0001243006,0.0001056238,0.000005447228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001124135,"about_ca_system_score_gemma":0.00005129444,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006100354,"about_ca_topic_score_gemma":0.0001350652,"domain_scores_codex":[0.9988844,0.00008220796,0.0003971727,0.0002972715,0.0001604065,0.0001784943],"domain_scores_gemma":[0.9993421,0.00002150311,0.0001061007,0.0004452314,0.00004031302,0.00004474109],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004035759,0.0006081856,0.9507053,0.00004054802,0.0000223686,0.0002230069,0.0007220884,0.0004713363,0.04656713,0.00002528393,0.0001384583,0.0004358757],"study_design_scores_gemma":[0.002331458,0.001908722,0.9898664,0.00008783687,0.0000215242,0.0001248936,0.004216472,0.00002457953,0.0006455496,0.0002387755,0.0003949858,0.0001388522],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963773,0.002445007,0.000008534208,0.0000561585,0.0001370632,0.000431949,0.00001547967,0.00000285357,0.0005256026],"genre_scores_gemma":[0.9988407,0.0005712136,0.0002125628,0.00008126981,0.00003380421,0.00002464868,0.0000814204,0.00001265091,0.0001417524],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04592158,"threshold_uncertainty_score":0.4217133,"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."}}