{"id":"W2980441224","doi":"10.1038/s41467-019-12435-8","title":"Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders","year":2019,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute of Mental Health; University of Washington; Canadian Institutes of Health Research; Howard Hughes Medical Institute; Center for Mendelian Genomics, University of Washington; Intellectual and Developmental Disabilities Research Center; National Natural Science Foundation of China; Simons Foundation; Simons Foundation Autism Research Initiative; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Autism; Intellectual disability; Proband; Neuroscience; Epilepsy; Postsynaptic potential; Postsynaptic density; Psychiatry; Mutation; Excitatory postsynaptic potential; Medicine; Biology; Psychology; Gene; Genetics; Inhibitory postsynaptic potential","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":[0.0000799228,0.0001649226,0.0001269674,0.0001165246,0.0001245494,0.00001983267,0.0005350602,0.0001797319,0.00001375972],"category_scores_gemma":[0.00006152832,0.0001598896,0.000046056,0.0005344023,0.0000862111,0.000006926132,0.0002291249,0.0004033745,0.00002085406],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003121244,"about_ca_system_score_gemma":0.0001167271,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001089835,"about_ca_topic_score_gemma":0.002644356,"domain_scores_codex":[0.9990596,0.00008402998,0.0001953211,0.0003087559,0.0001359488,0.0002163386],"domain_scores_gemma":[0.9990658,0.00003759225,0.00008659731,0.0007078828,0.0000533174,0.00004882756],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007019587,0.0009810581,0.9754833,0.00001339992,0.0001404127,0.000003177124,0.0003533929,0.0003881308,0.01986088,0.001054738,0.0007723871,0.0008789425],"study_design_scores_gemma":[0.0009029875,0.0001873431,0.9938465,0.00001666239,0.00001341847,0.00001336981,0.0002169747,0.00007888059,0.0001272759,0.0001073499,0.004240195,0.000249084],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928593,0.001272468,0.00002188319,0.001016252,0.00009500451,0.0004372237,0.00003792745,0.00001770543,0.00424221],"genre_scores_gemma":[0.9956762,0.0006100757,0.001955798,0.0004050092,0.000001968478,0.0000757898,0.000973505,0.00003118987,0.0002705266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0197336,"threshold_uncertainty_score":0.6520108,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005636456349905417,"score_gpt":0.2406269778406036,"score_spread":0.2349905214906981,"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."}}