{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005088963,0.00008515576,0.0001020223,0.00001315615,0.00003488081,0.000005255999,0.0001104238,0.00006772653,0.00001756218],"category_scores_gemma":[0.0001475537,0.00006610098,0.00007628713,0.00007652247,0.00007242156,0.000002188606,0.00009950052,0.00003820768,8.9222e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002422024,"about_ca_system_score_gemma":0.00002848205,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006017842,"about_ca_topic_score_gemma":0.00002698973,"domain_scores_codex":[0.9994416,0.00004898605,0.0001685215,0.0001802729,0.00006858534,0.00009200359],"domain_scores_gemma":[0.9996359,0.00002971403,0.00009632672,0.0001746289,0.00001503392,0.00004833585],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002545064,0.0001206725,0.03961221,0.00009094982,0.00007703144,0.000001264779,0.0006085584,0.001241364,0.9420397,0.0002240855,0.0004553654,0.0152743],"study_design_scores_gemma":[0.002435087,0.0004301582,0.9039242,0.0000393145,0.00005374991,0.000003947502,0.0001032722,0.001378303,0.09014878,0.000525152,0.0007293843,0.0002287032],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958394,0.001095604,0.0006622053,0.002072633,0.00004177153,0.0001932531,0.0000159657,0.000004606251,0.00007451988],"genre_scores_gemma":[0.9993579,0.00005203562,0.00003817284,0.0003984765,0.00003992744,0.000001581442,0.00006377829,0.00001222928,0.00003588218],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8643119,"threshold_uncertainty_score":0.269552,"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."}}