{"id":"W4308294454","doi":"10.1016/j.ejmg.2022.104657","title":"Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7","year":2022,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Failure to thrive; Microcephaly; Global developmental delay; Missense mutation; Autism; Phenotype; Intellectual disability; Autism spectrum disorder; Speech delay; Developmental disorder; Neuroscience; Disease; Candidate gene; Medicine; Genetics; Gene; Psychology; Biology; Pathology; Psychiatry","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":[0.0009262664,0.00008466219,0.0001249106,0.00007071631,0.00005343594,0.00001052728,0.0002961856,0.00002455081,0.0001214407],"category_scores_gemma":[0.0003714412,0.00007555673,0.00005365263,0.0001040642,0.0001129947,0.000002407156,0.0004289856,0.0003800415,0.000001040169],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006220918,"about_ca_system_score_gemma":0.0001732572,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002542272,"about_ca_topic_score_gemma":0.000003777016,"domain_scores_codex":[0.9977167,0.0009121642,0.0003767571,0.000159108,0.0006693729,0.0001658902],"domain_scores_gemma":[0.9993204,0.00004231757,0.0001023892,0.0001487541,0.00006537556,0.0003207606],"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":[0.003142535,0.003112352,0.1110378,0.0001866021,0.0001332258,0.06110037,0.00096449,0.001775402,0.6095903,0.00007650969,0.01235867,0.1965217],"study_design_scores_gemma":[0.007927115,0.01375334,0.9182677,0.00007758854,0.0001458728,0.00443114,0.000352008,0.006407564,0.002178046,0.0001183302,0.04575036,0.00059097],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966252,0.002066923,0.0002706986,0.0007682588,0.0001064393,0.00008406263,0.00002451549,0.000001735013,0.00005210901],"genre_scores_gemma":[0.99891,0.0005487001,0.0001134448,0.0002699371,0.00007133856,0.00000139866,0.00001442633,0.00001835288,0.00005245763],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8072299,"threshold_uncertainty_score":0.3081114,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01730917923380532,"score_gpt":0.2780329522607768,"score_spread":0.2607237730269715,"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."}}