{"id":"W4210629333","doi":"10.1093/brain/awac034","title":"ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Human Genome Research Institute; Children’s Hospital Foundation; Canadian Institutes of Health Research; Norges Forskningsråd; Stichting Metakids; Children's Hospital Foundation","keywords":"Biology; Methylmalonic aciduria; Chromatin immunoprecipitation; Genetics; Phenotype; Gene; Transcriptome; Promoter; Gene expression; Methylmalonic acid; Endocrinology","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":[0.0001475488,0.0001102736,0.0001013539,0.00003592599,0.0001073668,0.000009305935,0.0001282667,0.00006132917,0.000135623],"category_scores_gemma":[0.00004014417,0.0001177512,0.00004445214,0.00009012449,0.0001695452,0.000001597772,0.0002109237,0.00010231,9.602915e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000775358,"about_ca_system_score_gemma":0.00007824007,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002074669,"about_ca_topic_score_gemma":0.000008059323,"domain_scores_codex":[0.9992076,0.00007190886,0.0001516234,0.0002669852,0.0001400856,0.0001617841],"domain_scores_gemma":[0.9997112,0.00001915247,0.00005706808,0.0001483671,0.00001342066,0.00005080993],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004869168,0.00003380125,0.0007979801,0.00001599015,0.00002079502,0.00000552563,0.00006488056,0.00002423603,0.9741426,0.0003683464,0.02425778,0.0002194182],"study_design_scores_gemma":[0.00059069,0.0004673438,0.002885269,0.000004430337,0.000007936387,0.00005832592,0.0007137783,0.00001672943,0.8725662,0.0008765078,0.121579,0.0002338062],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928426,0.002330972,0.0000896721,0.003546714,0.0001345595,0.0001202004,0.00006578411,0.000007392531,0.000862065],"genre_scores_gemma":[0.9966057,0.00005123554,0.000148704,0.001566844,0.00002406525,0.00001723725,0.0001754619,0.00001322936,0.001397524],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1015764,"threshold_uncertainty_score":0.4801755,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006156801750910984,"score_gpt":0.1971444728708246,"score_spread":0.1909876711199136,"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."}}