{"id":"W2920675743","doi":"10.1016/j.ajhg.2019.03.021","title":"Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":99,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Izaak Walton Killam Health Centre; Hospital for Sick Children; University of Toronto; McGill University","funders":"National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; Medical Research Council; Center for Mendelian Genomics, University of Washington; National Institutes of Health; Dietmar Hopp Stiftung; Comisión Nacional de Investigación Científica y Tecnológica; Technische Universität Kaiserslautern; Department of Health and Social Care; National Institute for Health and Care Research; Action Medical Research; Bowel Cancer UK; Deutsche Forschungsgemeinschaft; University of Washington; National Human Genome Research Institute; Wellcome Trust; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Boston Children's Hospital; Children's Hospital of Philadelphia","keywords":"Missense mutation; Epilepsy; Autism; Haploinsufficiency; Microcephaly; Intellectual disability; Macrocephaly; Hypotonia; Autism spectrum disorder; Genetics; Developmental disorder; Psychology; Biology; Pediatrics; Medicine; Phenotype; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001176361,0.0000953166,0.0001894911,0.00005704138,0.00002805645,0.00001054401,0.0002080766,0.00001715998,0.000009655421],"category_scores_gemma":[0.000007797486,0.00007122772,0.00005869382,0.0000619214,0.0001760059,0.000001928506,0.00009184896,0.00007708016,0.000001037079],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007132424,"about_ca_system_score_gemma":0.00005533345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001765858,"about_ca_topic_score_gemma":0.00003567757,"domain_scores_codex":[0.9993266,0.00006243304,0.0002661169,0.0001115676,0.00009409848,0.0001391334],"domain_scores_gemma":[0.9994293,0.00001003552,0.0003034465,0.0001792516,0.00002504637,0.00005287278],"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":[0.0003799433,0.0002214062,0.4335555,0.00002298407,0.0001949987,0.00003417311,0.0007404725,0.0007589585,0.5565742,0.00003754636,0.000133595,0.007346227],"study_design_scores_gemma":[0.0008904969,0.002618247,0.9857493,0.00002233379,0.00003898792,0.0002078606,0.0007540482,0.0000345288,0.008675395,0.0004151184,0.000414965,0.0001787343],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989932,0.0006776608,0.00001874402,0.00008593658,0.00006846133,0.00007784943,0.000006391491,6.703609e-7,0.00007105508],"genre_scores_gemma":[0.9985171,0.001105543,0.0001589237,0.0001256307,0.00004364142,5.775233e-7,0.00000267711,0.00001431714,0.00003159501],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5521938,"threshold_uncertainty_score":0.2904582,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005209997748036728,"score_gpt":0.2300074983590979,"score_spread":0.2247975006110611,"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."}}