{"id":"W2123194540","doi":"10.1371/journal.pgen.1002521","title":"Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders","year":2012,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":443,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"NIH Clinical Center; Canadian Institutes of Health Research; Institut National de la Santé et de la Recherche Médicale; Assistance publique-Hôpitaux de Paris; Wellcome Trust; Agence Nationale de la Recherche; GlaxoSmithKline; Deutsche Forschungsgemeinschaft; Hersenstichting; National Institute for Health and Care Research; Fondation Orange; Hospital for Sick Children; University of Toronto","keywords":"Biology; Autism; Genetics; Mutation; Autism spectrum disorder; Computational biology; Evolutionary biology; Gene; Developmental psychology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000733401,0.0001626463,0.0002292476,0.0002410611,0.0001135174,0.00001564693,0.000191434,0.00007062281,0.0001291184],"category_scores_gemma":[0.0001732818,0.0001650357,0.00007116282,0.0004122677,0.0003974984,0.0001001944,0.0001661411,0.000142958,0.00001514795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002486536,"about_ca_system_score_gemma":0.00009941393,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004196365,"about_ca_topic_score_gemma":0.0001058427,"domain_scores_codex":[0.9982944,0.00008974291,0.0003441562,0.0002998133,0.0005358873,0.00043607],"domain_scores_gemma":[0.9991073,0.0002644335,0.0001461559,0.0003229911,0.00001063003,0.0001484738],"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":[0.00003550738,0.0008588677,0.1195259,0.0001091673,0.00004672202,7.63334e-7,0.0009614327,0.02852752,0.83815,0.01145264,0.00001992462,0.0003115836],"study_design_scores_gemma":[0.0004888786,0.0001070342,0.1008029,0.00001085508,0.00007221019,0.000004957269,0.00003768959,0.401812,0.4789248,0.01755033,0.00001275325,0.0001756805],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923524,0.0009159037,0.004788947,0.0009453871,0.00005033551,0.0003173626,0.0001165546,0.00002987499,0.0004832691],"genre_scores_gemma":[0.9975464,0.0004107931,0.001829967,0.00002984824,0.00002201292,0.00002595735,0.000005800904,0.00003282676,0.00009640679],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3732844,"threshold_uncertainty_score":0.6729961,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1029553686544069,"score_gpt":0.3176020103199214,"score_spread":0.2146466416655144,"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."}}