{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003100983,0.00101616,0.0006656335,0.002074512,0.0003310993,0.000547245,0.001005587,0.000971897,0.001812904],"category_scores_gemma":[0.001250157,0.0003705265,0.0004734897,0.0009746928,0.0006693192,0.0001917755,0.0005852327,0.0004111087,0.0003309459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004502254,"about_ca_system_score_gemma":0.0003071469,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001498654,"about_ca_topic_score_gemma":0.00190668,"domain_scores_codex":[0.9997091,0.00003715558,0.00004824862,0.00007024178,0.00009007231,0.00004516724],"domain_scores_gemma":[0.9994212,0.0001856012,0.0002332587,0.00003242959,0.00002972029,0.00009786353],"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":[0.005473003,0.0002323227,0.2912759,0.0002586276,0.0006379876,0.1857592,0.0006851965,0.002841388,0.477277,0.001507491,0.0009944235,0.0330575],"study_design_scores_gemma":[0.0009266334,0.0006112399,0.660483,0.00007984446,0.001012871,0.2365284,0.0004519293,0.008421414,0.08414176,0.00234006,0.004915314,0.00008749125],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998651,0.0003459544,0.000386377,0.0001227758,0.00001499744,0.000006667192,0.0001566436,0.00002261332,0.0002931385],"genre_scores_gemma":[0.997644,0.0002004894,0.001386,0.00002785967,0.00002219837,0.00001823924,0.0002043582,0.00001145054,0.0004853962],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002074512,"threshold_uncertainty_score":0.006064773,"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."}}