{"id":"W4399355375","doi":"10.1093/brain/awae175","title":"<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Center for Mendelian Genomics, University of Washington; Georgia Clinical and Translational Science Alliance; Rudi Schulte Research Institute; Deutsche Forschungsgemeinschaft; University of Washington; Children's Discovery Institute; National Institutes of Health; Yale University","keywords":"Ventriculomegaly; Hydrocephalus; Medicine; Pediatrics; Genetics; Biology; Pregnancy; Surgery; Fetus","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":[0.0001166812,0.0001298585,0.0001364458,0.0001808253,0.0001392456,0.00005818525,0.00008381822,0.00009409972,0.0001930129],"category_scores_gemma":[0.00009012671,0.0001157802,0.00004525416,0.0002023561,0.00009385014,0.000113882,0.00007700378,0.0002182286,0.0007168382],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003649224,"about_ca_system_score_gemma":0.00007270185,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002115736,"about_ca_topic_score_gemma":0.000004530165,"domain_scores_codex":[0.9992431,0.00009304398,0.0001586465,0.0002425957,0.00002311546,0.0002394921],"domain_scores_gemma":[0.9996464,0.0002022258,0.00001901344,0.00009862416,0.00001411814,0.00001956861],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002408064,0.0001414063,0.0006660852,0.0001601902,0.000658664,0.001810624,0.003166673,0.000004161985,0.895037,0.001992088,0.07236152,0.02376079],"study_design_scores_gemma":[0.002535911,0.0006727384,0.1021435,0.000427188,0.0001583208,0.03378815,0.0006021034,0.00005237251,0.1878771,0.0003263613,0.6705261,0.0008901252],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862621,0.01018436,0.00003753447,0.0013394,0.0007479588,0.0001385936,0.00002575833,0.0001721255,0.001092157],"genre_scores_gemma":[0.9821265,0.0000566812,0.00003136411,0.0002981342,0.00001056413,0.00001764746,0.0000584705,0.00001800449,0.01738261],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7071599,"threshold_uncertainty_score":0.9213743,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009279442150876524,"score_gpt":0.2401654091208381,"score_spread":0.2308859669699616,"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."}}