{"id":"W4388606125","doi":"10.1093/brain/awad380","title":"Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"International Collaboration On Repair Discoveries; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Engineering and Physical Sciences Research Council; Directorate for Biological Sciences; Centers for Disease Control and Prevention; Medical Research Council; Ataxia UK; Regione Toscana; Eberhard Karls Universität Tübingen; Ministerium für Wissenschaft, Forschung und Kunst Baden-Württemberg; Biotechnology and Biological Sciences Research Council; Wellcome Trust; Cancer Research UK; University College London; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; Spastic Paraplegia Foundation; Lily Foundation; Deutsche Forschungsgemeinschaft; Muscular Dystrophy UK; Health Systems Research Institute; National Institutes of Health; Rosetrees Trust; European Commission; Newlife the Charity for Disabled Children; Technische Universität München; Francis Crick Institute; Brain Research UK; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Oklahoma Medical Research Foundation; Muscular Dystrophy Association; Michael J. Fox Foundation for Parkinson's Research","keywords":"Dystonia; Microcephaly; Movement disorders; Ataxia; Biology; Hypotonia; Neuroscience; Genetics; Medicine; Internal medicine; 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":[0.00009487623,0.000191243,0.0001428912,0.00008316273,0.0001057559,0.00003782463,0.00014394,0.00007459269,0.00002421723],"category_scores_gemma":[0.00004061271,0.0001662058,0.00002459635,0.0002868665,0.00007375119,0.000005750331,0.0002155399,0.00007302498,0.00004112837],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001588483,"about_ca_system_score_gemma":0.00006357997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000113051,"about_ca_topic_score_gemma":0.00003081598,"domain_scores_codex":[0.9988562,0.00004875891,0.0001355761,0.0004562968,0.0001597481,0.0003434406],"domain_scores_gemma":[0.9995883,0.00001074758,0.00004409793,0.0001926521,0.00002496099,0.0001392918],"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":[0.0001322562,0.00008555172,0.01043868,0.00002748801,0.0001178427,0.00005497236,0.0002188708,0.00004034833,0.9644063,0.00001926918,0.02032341,0.004135081],"study_design_scores_gemma":[0.007017845,0.004693242,0.4363994,0.0002078355,0.000046154,0.0003605626,0.00162572,0.000376963,0.415373,0.0002798429,0.1310711,0.002548307],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964811,0.00005469986,0.0001403705,0.002463486,0.00007739917,0.0004901768,0.00002699875,0.00005663941,0.0002091816],"genre_scores_gemma":[0.9948922,0.00003457123,0.0008099452,0.003188743,0.00003857452,0.000120913,0.0001717866,0.00004210496,0.0007011414],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5490332,"threshold_uncertainty_score":0.6777677,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01033803449496503,"score_gpt":0.2412930991884894,"score_spread":0.2309550646935244,"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."}}