{"id":"W3095145521","doi":"10.1093/brain/awaa304","title":"<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation","year":2020,"lang":"en","type":"article","venue":"Brain","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":115,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Niilo Helanderin Säätiö; National Heart, Lung, and Blood Institute; NIHR Great Ormond Street Hospital Biomedical Research Centre; National Institute on Handicapped Research; Center for Mendelian Genomics, University of Washington; Medical Research Council; Department of Health and Aged Care, Australian Government; Rosetrees Trust; Department of Health and Social Care; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; King's College London; University of Washington; Cancer Research UK; National Human Genome Research Institute; Wellcome Trust","keywords":"Deep brain stimulation; Dystonia; Cervical dystonia; Cohort; Pediatrics; Medicine; Movement disorders; Missense mutation; Disease; Age of onset; Psychology; Neuroscience; Internal medicine; Phenotype; Genetics; Biology; Parkinson's disease","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001498968,0.0002292471,0.0003643362,0.0001631203,0.0001875147,0.0002367978,0.0001162631,0.000187201,0.0006104314],"category_scores_gemma":[0.0004676351,0.00007207322,0.0002198213,0.0001475343,0.0002297162,0.0001273376,0.0001819175,0.0002108167,0.0001406938],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002253328,"about_ca_system_score_gemma":0.0001466887,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001210602,"about_ca_topic_score_gemma":0.001906251,"domain_scores_codex":[0.9999063,0.00001482852,0.00001303692,0.00002724118,0.00001651322,0.00002205966],"domain_scores_gemma":[0.9998277,0.00004208996,0.00005759899,0.00001189406,0.00001070779,0.00004998086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001418074,0.0002955334,0.7903112,0.00008227909,0.0001502381,0.02361065,0.0004375993,0.0007354019,0.1287964,0.00019938,0.0004729683,0.05349035],"study_design_scores_gemma":[0.00003062675,0.0006354775,0.9562456,0.00001424211,0.00004519944,0.03853389,0.00008297576,0.0004697652,0.003426804,0.00006322398,0.0004453087,0.000006849901],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999019,0.0002861411,0.0001207679,0.00001964054,0.000001558125,0.000004123085,0.00004923403,0.00000512402,0.0004945123],"genre_scores_gemma":[0.9996904,0.00007866379,0.00005418381,0.00001772272,0.000003359349,0.000002706543,0.00005761129,0.000002286919,0.00009307524],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001210602,"threshold_uncertainty_score":0.002407193,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005883060855844308,"score_gpt":0.2220341552711681,"score_spread":0.2161510944153238,"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."}}