{"id":"W2125734713","doi":"10.1038/gim.2014.175","title":"Practical guidelines for managing adults with 22q11.2 deletion syndrome","year":2015,"lang":"en","type":"review","venue":"Genetics in Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":314,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital; Hospital for Sick Children; Toronto Western Hospital; University Health Network; Toronto General Hospital; University of Toronto; Centre for Addiction and Mental Health","funders":"National Institute of Mental Health; Canadian Institutes of Health Research; Canada Research Chairs; Fondation Brain Canada","keywords":"DiGeorge syndrome; Multidisciplinary approach; Psychosocial; Deletion syndrome; Microdeletion syndrome; Medicine; Genetic counseling; Population; MEDLINE; Psychiatry; Pediatrics; Genetics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0011351,0.0003874882,0.001021713,0.0002368218,0.00004079993,0.00001558256,0.0002872038,0.0003973739,0.00001722789],"category_scores_gemma":[0.001142786,0.0002785211,0.00011701,0.0002896363,0.0001696819,0.000002356222,0.0001953676,0.0003298868,0.00001678623],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007647715,"about_ca_system_score_gemma":0.0005931089,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001853934,"about_ca_topic_score_gemma":0.0001436282,"domain_scores_codex":[0.9975243,0.0001607092,0.0006661761,0.0006930652,0.0004814024,0.0004743605],"domain_scores_gemma":[0.9981156,0.0001036057,0.0001645513,0.0006592625,0.0007512725,0.0002057184],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001355833,0.00004314769,0.000009570036,0.008713025,0.0001240166,0.0001404464,0.00002015316,0.000007116014,0.00001782352,0.00001793311,0.01767416,0.973097],"study_design_scores_gemma":[0.001017699,0.001828533,0.000002915118,0.006759933,0.0002639678,0.0009273543,0.00006064569,0.0001577681,0.000008623143,0.00005607472,0.9886002,0.0003163011],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002240566,0.9943216,0.002498882,0.0005340818,0.0002036431,0.001785026,0.00002948144,0.00001187518,0.0003912828],"genre_scores_gemma":[0.0000934925,0.987126,0.009972786,0.0001179249,0.0007737123,0.0003431238,0.0008116435,0.00009968125,0.0006616391],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9727807,"threshold_uncertainty_score":0.9999667,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2039731107747694,"score_gpt":0.4985025999282115,"score_spread":0.2945294891534421,"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."}}