{"id":"W2160436756","doi":"10.1186/1866-1955-6-9","title":"CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems","year":2014,"lang":"en","type":"article","venue":"Journal of Neurodevelopmental Disorders","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Centre hospitalier universitaire de Québec; Alberta Children's Hospital; Hospital for Sick Children; University of Toronto; SickKids Foundation; Lakeridge Health; University of Calgary; Centre Hospitalier Universitaire de Sherbrooke","funders":"Hospital for Sick Children; GlaxoSmithKline; University of Toronto; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Haploinsufficiency; Intellectual disability; Autism spectrum disorder; Genetics; Autism; Global developmental delay; Speech delay; Phenotype; Epilepsy; Copy-number variation; Chromodomain; Comparative genomic hybridization; Biology; Macrocephaly; Bioinformatics; Epigenetics; Gene; Psychology; Neuroscience; 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":[0.0002775545,0.0008014075,0.0004025295,0.001688969,0.000513789,0.000289912,0.0003918322,0.0006733916,0.002621549],"category_scores_gemma":[0.001359537,0.0001636778,0.0001601779,0.001013623,0.000649688,0.0001578499,0.0004914384,0.0002466758,0.0001816286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001951405,"about_ca_system_score_gemma":0.0002004075,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001466393,"about_ca_topic_score_gemma":0.001463279,"domain_scores_codex":[0.9997304,0.00003675133,0.00004012369,0.0001023186,0.00005676909,0.00003356647],"domain_scores_gemma":[0.9992546,0.0002805447,0.0002668264,0.00002907658,0.00005153875,0.0001172723],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009795055,0.0001050494,0.8493196,0.0001949663,0.0002379446,0.07645188,0.0007352949,0.0002332233,0.05636264,0.0002417933,0.000779231,0.014359],"study_design_scores_gemma":[0.00003892093,0.0002850177,0.890475,0.00003920415,0.0001380795,0.1024136,0.0003176861,0.0002385426,0.004660342,0.000187216,0.001190647,0.00001578987],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981939,0.0006645052,0.0001912722,0.00005886822,0.000007765563,0.00001174278,0.0002438649,0.00001401713,0.0006140645],"genre_scores_gemma":[0.9990792,0.0002291067,0.0002367786,0.00003166863,0.00001598474,0.000006177809,0.0002091029,0.000004771005,0.0001872728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002621549,"threshold_uncertainty_score":0.008769989,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008214318312722135,"score_gpt":0.2041780962480171,"score_spread":0.195963777935295,"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."}}