{"id":"W4292236596","doi":"10.1093/brain/awac278","title":"<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Alberta Children's Hospital; University of Calgary; Hospital for Sick Children","funders":"National Institute of Mental Health; Università degli Studi di Torino; Deutscher Akademischer Austauschdienst; Hospital for Sick Children; Autism Speaks","keywords":"Haploinsufficiency; Neurodevelopmental disorder; Biology; Neuroscience; Induced pluripotent stem cell; Translation (biology); Autism spectrum disorder; Phenotype; Autism; Genetics; Gene; Embryonic stem cell; Psychology; Messenger RNA; Psychiatry","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":[0.00009370624,0.0001665218,0.00009654222,0.0000467778,0.0002483741,0.00002626564,0.000158091,0.00002580931,0.0000733063],"category_scores_gemma":[0.00001529374,0.0001572686,0.00002900945,0.0001318577,0.00007103853,0.000003105095,0.0004014479,0.00009237359,0.00000371455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001140369,"about_ca_system_score_gemma":0.00008706879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003979737,"about_ca_topic_score_gemma":0.00009854753,"domain_scores_codex":[0.9989544,0.00005499155,0.0001289563,0.0004172269,0.0001824597,0.000261939],"domain_scores_gemma":[0.9996701,0.000007865108,0.00004668343,0.0001871165,0.00001179888,0.00007641789],"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":[0.0002386205,0.0006632244,0.03092522,0.00003719034,0.00007202008,0.00007008289,0.002447664,0.0003581433,0.9452282,0.0001119535,0.01292992,0.006917787],"study_design_scores_gemma":[0.004977792,0.004053447,0.4660102,0.00001459539,0.00003271808,0.0006023013,0.01160531,0.0001111391,0.03413014,0.00004808506,0.4769931,0.001421086],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975032,0.0005351999,0.00006706489,0.0005683823,0.0000690356,0.0002375276,0.00004130267,0.00002015458,0.0009581856],"genre_scores_gemma":[0.9959066,0.00005933132,0.0003708066,0.001958729,0.00001258444,0.00007901138,0.0001104578,0.00003413137,0.001468379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.911098,"threshold_uncertainty_score":0.6413226,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005268765780248957,"score_gpt":0.2145971150209618,"score_spread":0.2093283492407128,"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."}}