{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003051455,0.0007752022,0.0007288665,0.001586666,0.001123645,0.0008825391,0.0006317057,0.0005170704,0.005773134],"category_scores_gemma":[0.001910498,0.0004384957,0.000456934,0.001855586,0.0005347425,0.0002981417,0.0008338336,0.0004847109,0.001503224],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003133236,"about_ca_system_score_gemma":0.0003698912,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003101448,"about_ca_topic_score_gemma":0.001615267,"domain_scores_codex":[0.9994051,0.00005427756,0.00008804927,0.0001870922,0.0001376989,0.0001277006],"domain_scores_gemma":[0.9993907,0.000182863,0.0001403998,0.0000633228,0.00008081434,0.0001419185],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003218576,0.0009060187,0.8345367,0.0001988798,0.0002735831,0.07964124,0.006336011,0.0004524625,0.03415123,0.0004637897,0.002226504,0.03759509],"study_design_scores_gemma":[0.0002523899,0.0005902149,0.9046447,0.00008382096,0.0002583345,0.0806919,0.001914168,0.0003954657,0.003732553,0.0003019104,0.007072354,0.00006203038],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966077,0.0003009574,0.0003180396,0.00004065809,0.000007592314,0.00003889064,0.0009456454,0.00001178349,0.001728726],"genre_scores_gemma":[0.9956474,0.0003772956,0.0003586585,0.00005881987,0.00001729007,0.00005641728,0.002581121,0.0000268053,0.0008762113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005773134,"threshold_uncertainty_score":0.01931304,"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."}}