{"id":"W3122850411","doi":"10.1016/j.ajhg.2021.01.008","title":"De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; Medical Research Council; Canadian Institutes of Health Research; Manchester Biomedical Research Centre; Manton Center for Orphan Disease Research, Boston Children's Hospital; National Human Genome Research Institute; Alberta Children's Hospital Research Institute; Broad Institute; Alberta Children's Hospital Foundation; Deutsche Forschungsgemeinschaft; National Institute for Health and Care Research; Higher Education Commision, Pakistan; U.S. Department of Defense; Kidney Foundation of Canada; National Institutes of Health; Kidney Research UK; AstraZeneca; Canadian Society of Nephrology; National Eye Institute; Guy's and St Thomas' NHS Foundation Trust; National Institute of Diabetes and Digestive and Kidney Diseases; ASN Foundation for Kidney Research; King’s College London; National Heart, Lung, and Blood Institute; American Society of Pediatric Nephrology","keywords":"Epilepsy; Focal segmental glomerulosclerosis; Neuroscience; Biology; Medicine; Genetics; Glomerulonephritis","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":[0.0002100211,0.0001365467,0.0002716544,0.00008470604,0.0002812115,0.00004811124,0.0001424321,0.00004267356,0.000122469],"category_scores_gemma":[0.00005247223,0.0001051431,0.00004509039,0.00007569502,0.0003424591,0.00004377226,0.000166256,0.0001832318,0.00001526859],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007049585,"about_ca_system_score_gemma":0.0001089364,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001593851,"about_ca_topic_score_gemma":0.00001484453,"domain_scores_codex":[0.998912,0.0003515122,0.0003248798,0.0001258085,0.00005061223,0.0002351527],"domain_scores_gemma":[0.9994972,0.0000464225,0.0002006778,0.00009522263,0.0001077531,0.00005267619],"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":[0.0006480422,0.00008812643,0.00230217,0.00001097521,0.0003176085,0.00005796955,0.004302623,0.000008261555,0.9826795,0.00005808011,0.0004440356,0.009082625],"study_design_scores_gemma":[0.003606981,0.008594816,0.1833936,0.0003921793,0.0003445779,0.0192819,0.02283613,0.00005446752,0.7550521,0.0001349257,0.005658929,0.0006494386],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968584,0.002239701,0.0003265294,0.0003417356,0.0000639602,0.0001104209,0.00001130811,0.000007119667,0.00004088496],"genre_scores_gemma":[0.998005,0.0004851385,0.0007149089,0.0004900806,0.00002244476,0.000002197717,0.000002848335,0.00001887873,0.0002585365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2276274,"threshold_uncertainty_score":0.4287613,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01714325764432295,"score_gpt":0.2578445059418636,"score_spread":0.2407012482975406,"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."}}