{"id":"W2124424065","doi":"10.1038/ejhg.2009.192","title":"Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome","year":2009,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":162,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; Memorial University of Newfoundland","funders":"Hospital for Sick Children; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; University of Toronto; GlaxoSmithKline; National Alliance for Research on Schizophrenia and Depression; Ontario Genomics Institute","keywords":"Microdeletion syndrome; Rubinstein–Taybi syndrome; Haploinsufficiency; Autism; CHARGE syndrome; Autism spectrum disorder; Genetics; Copy-number variation; Comparative genomic hybridization; Biology; Phenotype; Gene; Medicine; Genome; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006286057,0.00008303371,0.0001063269,0.00005230853,0.0000792327,0.00003729794,0.000106398,0.0000244264,0.000002555429],"category_scores_gemma":[0.00001513073,0.0000677695,0.00003207678,0.00003476258,0.00004916952,0.000006043189,0.00002611764,0.00004953338,2.806835e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006299496,"about_ca_system_score_gemma":0.00002961607,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003346224,"about_ca_topic_score_gemma":0.000002893242,"domain_scores_codex":[0.9992445,0.00009620482,0.0003790573,0.0001092953,0.00007249955,0.00009845492],"domain_scores_gemma":[0.9994987,0.00001071939,0.0002708583,0.00009232281,0.00009787142,0.00002957648],"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":[0.00007148855,0.0001390141,0.001093403,0.00003309333,0.00005138679,0.000009405146,0.001053164,0.0001245573,0.995401,0.0007818897,0.00007571362,0.001165899],"study_design_scores_gemma":[0.00563938,0.009297307,0.7799718,0.000204596,0.0003257268,0.002693271,0.002869671,0.0001918994,0.1925108,0.00293045,0.002895832,0.000469237],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947763,0.001525727,0.003264327,0.000122182,0.00003708172,0.0001540125,0.00003572549,9.070282e-7,0.00008373803],"genre_scores_gemma":[0.9984074,0.0004356141,0.0008881578,0.00009948598,0.000057191,0.000001358568,0.00002430924,0.000008728987,0.00007770229],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8028902,"threshold_uncertainty_score":0.276356,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009157578672456045,"score_gpt":0.2360983001944164,"score_spread":0.2269407215219603,"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."}}