{"id":"W4319655678","doi":"10.1093/brain/awad039","title":"The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa; McMaster Children's Hospital; Western University","funders":"Wellcome Trust; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institute for Health and Care Research; National Institute of Neurological Disorders and Stroke; Medical Research Council; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission; Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft; Canada Foundation for Innovation","keywords":"Medicine; Dystonia; Arthrogryposis; Arthrogryposis multiplex congenita; Microcephaly; Intellectual disability; Context (archaeology); Penetrance; Movement disorders; Pediatrics; Disease; Genetics; Phenotype; Pathology; Biology; Gene; Psychiatry; Anatomy","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002707367,0.0006349504,0.0004188939,0.001301485,0.0004469353,0.0003118668,0.0002506258,0.0002815977,0.002766001],"category_scores_gemma":[0.0009888625,0.0001879287,0.0002208183,0.0008607637,0.0004809616,0.0002673276,0.000628856,0.0001850081,0.0004946801],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001438958,"about_ca_system_score_gemma":0.000249629,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001508441,"about_ca_topic_score_gemma":0.001159611,"domain_scores_codex":[0.9996798,0.00004464751,0.00005027247,0.0001051064,0.00005539689,0.00006474224],"domain_scores_gemma":[0.9995508,0.00009688734,0.0001778761,0.00002202625,0.00005261538,0.00009977753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004436374,0.00005763864,0.9138744,0.0001058886,0.0001015967,0.04072011,0.0005645521,0.0002544065,0.02111038,0.000199045,0.0004812817,0.02208696],"study_design_scores_gemma":[0.000008568394,0.0001770117,0.8861164,0.00002867734,0.000052943,0.1114124,0.0003290775,0.00009363814,0.0008270108,0.0001275777,0.0008166684,0.00001012038],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996994,0.001013033,0.0002361619,0.00003165279,0.000003307109,0.00001202218,0.0002912038,0.00001442843,0.001404229],"genre_scores_gemma":[0.9987171,0.0004994132,0.0001930847,0.00002665025,0.00001092859,0.000007846435,0.0003197241,0.000005642726,0.0002196399],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002766001,"threshold_uncertainty_score":0.009253263,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02007949026087379,"score_gpt":0.3405253714114936,"score_spread":0.3204458811506198,"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."}}