{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001921501,0.0002413984,0.000232211,0.0000620587,0.0001604528,0.00005710958,0.0002323468,0.00007419666,0.00002859511],"category_scores_gemma":[0.0002101827,0.0001926378,0.00009267949,0.0001302372,0.0002538116,0.00001742191,0.0001613097,0.0001636726,0.000002473729],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000390135,"about_ca_system_score_gemma":0.0001534152,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007768641,"about_ca_topic_score_gemma":0.00008216303,"domain_scores_codex":[0.9986367,0.00007701079,0.0004266993,0.0003126714,0.0002608285,0.0002861435],"domain_scores_gemma":[0.9993538,0.00003697936,0.0002366841,0.0001046236,0.0000906611,0.0001772685],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008410235,0.002813289,0.8933777,0.0000822341,0.0004392927,0.0001014972,0.003326567,0.0003799214,0.06337032,0.00002239687,0.006264929,0.02898086],"study_design_scores_gemma":[0.003408769,0.003420978,0.9736765,0.0001046151,0.0001004471,0.002111654,0.0009420142,0.0002142783,0.00260886,0.0001376754,0.01240555,0.0008686465],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987999,0.0001341959,0.0002486524,0.0002490858,0.0001327936,0.0001594822,0.00001390426,0.000007110594,0.0002548912],"genre_scores_gemma":[0.9986184,0.0002334444,0.0004645039,0.0004954868,0.00002914907,0.000004565869,0.00003011205,0.00003411498,0.00009017354],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08029885,"threshold_uncertainty_score":0.7855543,"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."}}