{"id":"W4399862179","doi":"10.1002/mds.29883","title":"Biallelic <i>ZBTB11</i> Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders","year":2024,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"Medical Research Council; University College London; Brain Research UK; National Institute for Health and Care Research; Ataxia UK; Wellcome Trust; Biotechnology and Biological Sciences Research Council; Great Ormond Street Hospital Charity; Rosetrees Trust; Michael J. Fox Foundation for Parkinson's Research","keywords":"Dystonia; Movement disorders; Ataxia; Deep brain stimulation; Intellectual disability; Neurological disorder; Neurodevelopmental disorder; Medicine; Myoclonus; Neuroscience; Phenotype; Pediatrics; Physical medicine and rehabilitation; Psychology; Pathology; Psychiatry; Genetics; Biology; Central nervous system disease; Autism; Parkinson's disease; 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":[0.0001830998,0.0009527866,0.0002844634,0.0008011837,0.0005887965,0.0004207396,0.0003404686,0.000569622,0.002422281],"category_scores_gemma":[0.0006284814,0.0002070712,0.0002046684,0.0008046029,0.0006318619,0.0002035552,0.0005429566,0.0004563498,0.0003697926],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002954958,"about_ca_system_score_gemma":0.0002921155,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002322252,"about_ca_topic_score_gemma":0.002935858,"domain_scores_codex":[0.9997955,0.00002031804,0.00002901662,0.00007212327,0.00004041364,0.00004266989],"domain_scores_gemma":[0.9997122,0.00006307732,0.0001268662,0.00001499723,0.00002004216,0.00006275722],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0008896225,0.0001356721,0.5495155,0.0001626687,0.0002055116,0.2848321,0.001049487,0.0005543535,0.1388809,0.001061315,0.001147067,0.02156592],"study_design_scores_gemma":[0.00004977839,0.0002568225,0.4836908,0.0000316278,0.0001176629,0.5048704,0.0002537913,0.0006288862,0.008161037,0.000297648,0.001618796,0.00002278873],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976934,0.0003016076,0.0006337054,0.00006716912,0.000005322839,0.00001806512,0.000191204,0.00002596237,0.001063565],"genre_scores_gemma":[0.9989879,0.0001133571,0.0004821494,0.00003229115,0.00001348066,0.000005148199,0.0001247812,0.000008471618,0.0002326238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002422281,"threshold_uncertainty_score":0.008103311,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005340870761536769,"score_gpt":0.227123749344285,"score_spread":0.2217828785827482,"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."}}