{"id":"W2116058450","doi":"10.1016/j.ajhg.2012.03.017","title":"SHANK1 Deletions in Males with Autism Spectrum Disorder","year":2012,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":325,"is_retracted":false,"has_abstract":false,"ca_institutions":"Memorial University of Newfoundland; McGill University; Montreal Children's Hospital; Holland Bloorview Kids Rehabilitation Hospital; University of Alberta; Université de Montréal; McMaster University; University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Agence Nationale de la Recherche","keywords":"Autism spectrum disorder; Autism; Spectrum (functional analysis); Psychology; Medicine; Physics; Developmental psychology","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":[0.0001771865,0.0008096166,0.0004494633,0.0021803,0.0006825754,0.0003722289,0.0005347013,0.0008277735,0.004478037],"category_scores_gemma":[0.0008671965,0.000359642,0.0002680069,0.0007746248,0.0004882418,0.0002525344,0.0005394786,0.0003405819,0.0004326117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002246043,"about_ca_system_score_gemma":0.0002168337,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001454792,"about_ca_topic_score_gemma":0.002260508,"domain_scores_codex":[0.9997167,0.00003545728,0.00002946565,0.00008744649,0.00008355398,0.00004734131],"domain_scores_gemma":[0.9994753,0.0001447499,0.0002207105,0.00002607809,0.00003097304,0.0001022513],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002129463,0.0001829466,0.5019995,0.0001234021,0.000222179,0.3362065,0.001419474,0.001243329,0.1274917,0.0009721908,0.001775857,0.02623343],"study_design_scores_gemma":[0.00007088957,0.0002646483,0.6223992,0.00004232679,0.0001908443,0.3634831,0.0006059466,0.0007711413,0.01002526,0.0004312041,0.001675826,0.00003954188],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973616,0.0003388722,0.0001650638,0.000131916,0.00001449449,0.000005252691,0.0002392406,0.00003290436,0.001710497],"genre_scores_gemma":[0.9991189,0.0001144086,0.0002207229,0.00003301884,0.00002653361,0.000003597577,0.00009483809,0.00001032957,0.0003776429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004478037,"threshold_uncertainty_score":0.01498055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007688045949760233,"score_gpt":0.2341819053353158,"score_spread":0.2264938593855556,"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."}}