{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001024476,0.0009637786,0.0003642817,0.0007604246,0.0003314359,0.0002512206,0.0003619632,0.0005851129,0.002023636],"category_scores_gemma":[0.0002367968,0.0001698007,0.0002769354,0.000241892,0.0004262002,0.000101607,0.0004076351,0.000405954,0.0004723227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000186985,"about_ca_system_score_gemma":0.0001447892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001305261,"about_ca_topic_score_gemma":0.001686182,"domain_scores_codex":[0.9998242,0.00001577266,0.00002422802,0.00006593275,0.00004500418,0.00002482837],"domain_scores_gemma":[0.9998324,0.00003709656,0.00005783727,0.00001422878,0.00001228693,0.00004614026],"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":[0.0002908543,0.00007489673,0.008087953,0.0001015939,0.00008073606,0.03758789,0.0001446319,0.0003058208,0.9414757,0.00034532,0.0006466912,0.01085792],"study_design_scores_gemma":[0.00009207812,0.0005982751,0.1369631,0.00007074804,0.0003559829,0.2355753,0.0002209923,0.004256872,0.6012079,0.000625976,0.01996504,0.00006776142],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921697,0.0008212876,0.003259506,0.0001318137,0.00004504812,0.00005055535,0.0008326349,0.0002176202,0.002471841],"genre_scores_gemma":[0.9945341,0.0004836262,0.002628878,0.00009344011,0.00003209046,0.00003166897,0.0008276078,0.000081455,0.001287022],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002023636,"threshold_uncertainty_score":0.006769717,"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."}}