{"id":"W2520557077","doi":"10.1016/j.ajhg.2016.08.001","title":"De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms","year":2016,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":154,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Wellcome Trust","keywords":"Chromodomain; Biology; Chromatin remodeling; Genetics; Chromatin; SMARCA4; Missense mutation; Gene; Helicase; Mutation","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":[0.0003894111,0.0001882292,0.0002679095,0.0000449988,0.0001143537,0.00003275604,0.0004126604,0.00004430954,0.00004851063],"category_scores_gemma":[0.00005589559,0.0001112547,0.00007022367,0.0001175706,0.000733065,0.00001194687,0.00004936484,0.0001525994,0.0000021465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001175966,"about_ca_system_score_gemma":0.0001899663,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008086978,"about_ca_topic_score_gemma":0.000394115,"domain_scores_codex":[0.9985469,0.0002685925,0.000415373,0.0002524885,0.0002422244,0.0002744045],"domain_scores_gemma":[0.9987647,0.00004821931,0.0003690192,0.0005054026,0.0001600331,0.0001526182],"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":[0.0009084838,0.000659178,0.03854199,0.00001502632,0.0002974529,0.0001265158,0.00442392,0.02420107,0.8825443,0.00001309551,0.00003626213,0.0482327],"study_design_scores_gemma":[0.006852217,0.03759328,0.6515192,0.0004140386,0.0006319275,0.01287204,0.00839739,0.007297998,0.2688179,0.003298736,0.0002604502,0.002044768],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861507,0.0001384384,0.01337248,0.0001361418,0.00003050099,0.0001133068,0.00002472304,0.000006615396,0.00002705595],"genre_scores_gemma":[0.9963253,0.00007812539,0.003242026,0.00009894927,0.0001558499,0.000005256803,0.00001153498,0.00003247416,0.00005049446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6137264,"threshold_uncertainty_score":0.4536836,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01782115454085796,"score_gpt":0.2871012201531007,"score_spread":0.2692800656122428,"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."}}