{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001970292,0.000759957,0.0003255271,0.0003847637,0.0002811819,0.0003496009,0.0006080362,0.0009854176,0.004021821],"category_scores_gemma":[0.000371661,0.0002349001,0.000391868,0.000195273,0.0006367089,0.0001692753,0.0003732485,0.001064481,0.001049959],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003882152,"about_ca_system_score_gemma":0.0002964044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001055656,"about_ca_topic_score_gemma":0.001824148,"domain_scores_codex":[0.9997455,0.00005928675,0.00004198691,0.00005206702,0.00005967054,0.00004142792],"domain_scores_gemma":[0.9994665,0.0001303481,0.0001843213,0.0000609338,0.00002918326,0.000128787],"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":[0.0006165548,0.0001363906,0.001242215,0.00008107339,0.00009398993,0.006298077,0.00005955722,0.0006383143,0.984578,0.001002769,0.0006146614,0.004638474],"study_design_scores_gemma":[0.0003784905,0.0007968461,0.02455004,0.00005267949,0.0002743794,0.03202749,0.0002689408,0.006819483,0.9211938,0.001269952,0.01230542,0.00006238757],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910698,0.000636839,0.004534313,0.0003561578,0.0001819254,0.00003469793,0.0009321027,0.0003786849,0.001875422],"genre_scores_gemma":[0.995946,0.0001619885,0.001424218,0.00009872015,0.00002786102,0.00001748032,0.0003464924,0.0001050401,0.001872209],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004021821,"threshold_uncertainty_score":0.01345432,"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."}}