{"id":"W2149851863","doi":"10.1038/ejhg.2011.199","title":"Severe intellectual disability and autistic features associated with microduplication 2q23.1","year":2011,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University; McMaster Children's Hospital; Amgen (Canada); University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"Ontario Ministry of Research and Innovation; Canadian Institutes of Health Research; Sick Kids Foundation; Ontario Genomics; Genome Canada; Ontario Genomics Institute; Canadian Institute for Advanced Research; University of Ottawa; Hospital for Sick Children; Wellcome Trust; University of Toronto; GlaxoSmithKline","keywords":"Gene duplication; Hypotonia; RefSeq; Intellectual disability; Autism; Genetics; Microarray analysis techniques; Developmental disorder; Chromosome; Gene; Lissencephaly; Copy-number variation; Biology; Medicine; Psychiatry; Genome","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":[0.000278607,0.0001071027,0.0001065082,0.0000211486,0.0001020536,0.00002550471,0.0001553107,0.00002936858,0.00004335641],"category_scores_gemma":[0.00007128021,0.00008674028,0.00003928947,0.00003441804,0.0001725196,0.000003570757,0.00006567837,0.0001003469,0.000002398728],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001413945,"about_ca_system_score_gemma":0.00002681637,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001866189,"about_ca_topic_score_gemma":0.00001766336,"domain_scores_codex":[0.9992535,0.0001715074,0.0002502126,0.0001324865,0.00007741393,0.0001148782],"domain_scores_gemma":[0.999428,0.00001047072,0.000203734,0.0001676793,0.000132578,0.0000575848],"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":[0.0009941846,0.00153165,0.3350125,0.0001297308,0.001527461,0.000148684,0.02100792,0.0002685261,0.6068484,0.0009586852,0.01636674,0.01520552],"study_design_scores_gemma":[0.0009175162,0.002588533,0.9632,0.00004015404,0.0001186992,0.0004620509,0.0005649064,0.000004526614,0.02926126,0.0001464186,0.002421594,0.0002743051],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968343,0.0005260413,0.0005115712,0.00002855812,0.0000416495,0.00005181082,0.00001127112,0.00000380966,0.001990939],"genre_scores_gemma":[0.9981699,0.0000686621,0.001144911,0.00004876456,0.000138805,4.294147e-7,0.00002140096,0.00001985918,0.000387246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6281875,"threshold_uncertainty_score":0.3537166,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01693750432138334,"score_gpt":0.210807428039325,"score_spread":0.1938699237179417,"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."}}