{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002094611,0.001971537,0.0007216253,0.002286377,0.0009141998,0.0005833427,0.0006848185,0.001665436,0.002546282],"category_scores_gemma":[0.002131566,0.000493291,0.0005091148,0.001150251,0.001096375,0.000362705,0.0009236658,0.001031802,0.0003377438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003605038,"about_ca_system_score_gemma":0.0004252304,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002445154,"about_ca_topic_score_gemma":0.003121255,"domain_scores_codex":[0.9995037,0.0000813276,0.00004623282,0.0001238199,0.0001468756,0.00009793827],"domain_scores_gemma":[0.9990822,0.0002681102,0.0002869657,0.00004481456,0.00004772956,0.0002702419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0005236587,0.0001183494,0.09068833,0.0001068562,0.0001062721,0.875762,0.0003216711,0.0004256016,0.0260295,0.0005377702,0.0008150264,0.004564915],"study_design_scores_gemma":[0.00005479583,0.000257766,0.2073019,0.00002019765,0.00005493569,0.7891316,0.0001687732,0.0004312193,0.001197373,0.0007084903,0.0006306848,0.00004224432],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936076,0.0004081634,0.000536736,0.0005695405,0.00004432632,0.00005113931,0.0002886428,0.000062637,0.004431286],"genre_scores_gemma":[0.9987231,0.0001619783,0.000306891,0.00008441073,0.0001034968,0.00001323138,0.0001512037,0.000009523515,0.0004461167],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002546282,"threshold_uncertainty_score":0.008518159,"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."}}