{"id":"W4381512867","doi":"10.1038/s41431-023-01410-z","title":"BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients","year":2023,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University; McGill University Health Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institutes of Health; King Salman Center for Disability Research","keywords":"Phenotype; Hypotonia; Frameshift mutation; Genetics; Genotype; Microcephaly; Ataxia; Biology; Missense mutation; Nonsense; Genotype-phenotype distinction; Atrophy; Cerebellar ataxia; Epilepsy; Psychomotor retardation; Medicine; Pathology; Neuroscience","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":[0.0001629341,0.0001524936,0.0001403696,0.00009167776,0.0001638897,0.00004562908,0.0002266311,0.00004344367,0.00006359209],"category_scores_gemma":[0.00004329894,0.0001440921,0.00009652108,0.0001057998,0.00008039263,0.000004885321,0.000151695,0.0001279,0.00009790209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007687891,"about_ca_system_score_gemma":0.00003659814,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002856053,"about_ca_topic_score_gemma":0.00001786974,"domain_scores_codex":[0.9989311,0.0001458222,0.0003917305,0.0002006551,0.0001384749,0.0001922139],"domain_scores_gemma":[0.9992863,0.00001300042,0.0002453297,0.0002205125,0.00009099671,0.0001438449],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008218496,0.001645346,0.4953137,0.0001005244,0.002338845,0.0004407697,0.00509553,0.01004048,0.3249162,0.0008859041,0.05601119,0.1023896],"study_design_scores_gemma":[0.002436189,0.001483731,0.9572092,0.00003607863,0.0001731599,0.000009922801,0.0002249015,0.0001443674,0.001272793,0.002662033,0.03392358,0.0004240291],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950192,0.002637495,0.0001603798,0.0000673151,0.0003951208,0.00008281266,0.00005053353,0.00001140952,0.001575739],"genre_scores_gemma":[0.9974872,0.001066393,0.0002000289,0.00007355122,0.0003492362,3.621094e-7,0.0002576135,0.00005188812,0.0005136939],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4618955,"threshold_uncertainty_score":0.5875905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008999497576676615,"score_gpt":0.2158127921105614,"score_spread":0.2068132945338848,"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."}}