{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003552427,0.00009104382,0.0001964629,0.00006931963,0.0001035798,0.00001160937,0.0001122159,0.00007733757,0.00004250169],"category_scores_gemma":[0.0005296294,0.00006182592,0.0001107271,0.0003822223,0.0004918459,0.00001189593,0.0001017846,0.0001990681,0.00006086872],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004063095,"about_ca_system_score_gemma":0.000110794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002361298,"about_ca_topic_score_gemma":0.00005382621,"domain_scores_codex":[0.9987581,0.0001571493,0.0003104946,0.0002320478,0.0002662064,0.000276041],"domain_scores_gemma":[0.9990328,0.000471544,0.00005567792,0.0002906329,0.00002542088,0.0001239402],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003496424,0.0002998025,0.5068983,0.0002018611,0.0004911547,0.000183406,0.0005953428,0.00002584062,0.008084899,0.001914994,0.04380569,0.437149],"study_design_scores_gemma":[0.002132459,0.0004388344,0.9380503,0.00003513413,0.00004298656,0.00003199635,0.0002498373,0.001054333,0.0003985204,0.003572449,0.05389707,0.00009611994],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9714491,0.001544992,0.00003111724,0.02433514,0.000140627,0.0004537722,0.000003522954,0.00005548345,0.001986216],"genre_scores_gemma":[0.9917689,0.00409004,0.000058832,0.0002716884,0.00004458906,0.00001450382,0.000006805918,0.00002554854,0.003719123],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4370529,"threshold_uncertainty_score":0.2521188,"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."}}