{"id":"W2144381137","doi":"10.1093/hmg/ddt056","title":"Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":159,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; University of Alberta; McGill University; Holland Bloorview Kids Rehabilitation Hospital; Memorial University of Newfoundland; Centre for Addiction and Mental Health; Hospital for Sick Children; Montreal Children's Hospital; SickKids Foundation; University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Gephyrin; Biology; Genetics; Exon; Neuroscience; Autism; Neurodevelopmental disorder; Autism spectrum disorder; Gene; Glycine receptor; Medicine; Psychiatry; Glycine","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":[0.0001598134,0.000216897,0.0001601599,0.00005616463,0.0002048666,0.00007549563,0.0002889597,0.0001805406,0.00009773027],"category_scores_gemma":[0.00006018995,0.0001804358,0.00008306489,0.00008611363,0.0001074463,0.00000298193,0.0001583902,0.0001056617,0.00003412452],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009943537,"about_ca_system_score_gemma":0.00003502785,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004118177,"about_ca_topic_score_gemma":0.00008186213,"domain_scores_codex":[0.9987827,0.000128313,0.0002366408,0.0004186348,0.0001005701,0.000333161],"domain_scores_gemma":[0.9991685,0.00002108,0.00009873715,0.0005725577,0.00005043286,0.0000887488],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001351599,0.00002640415,0.0003873126,0.0000134861,0.0000611149,0.000003168875,0.00003318752,0.00005228277,0.9938825,0.002150035,0.0004291256,0.002947869],"study_design_scores_gemma":[0.002482888,0.0007615567,0.06939885,0.00005074637,0.0001969108,0.0001036195,0.0001248238,0.0004864187,0.869418,0.03732498,0.01864896,0.001002224],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9827788,0.003487771,0.0121003,0.0002583273,0.00003414108,0.001033193,0.00001696688,0.00001975476,0.000270748],"genre_scores_gemma":[0.9929507,0.0003410367,0.005487028,0.0002262353,0.00005829849,0.000380551,0.00003088535,0.00008783319,0.0004373728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1244645,"threshold_uncertainty_score":0.7357957,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00913323929825169,"score_gpt":0.2327322300673652,"score_spread":0.2235989907691135,"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."}}