{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001624169,0.0007764754,0.0003883988,0.0009475202,0.0005662137,0.0001866195,0.0002193851,0.0003047705,0.002068312],"category_scores_gemma":[0.0008364178,0.0001944672,0.0002166488,0.0005802769,0.0003931704,0.0002160096,0.0006844446,0.0001700878,0.0002909359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001904075,"about_ca_system_score_gemma":0.0001373376,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001389884,"about_ca_topic_score_gemma":0.002445052,"domain_scores_codex":[0.9997554,0.00003410448,0.00003546653,0.00006118601,0.0000544723,0.00005926473],"domain_scores_gemma":[0.9998037,0.00005439597,0.00006297983,0.00001287473,0.0000169878,0.00004902802],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005655115,0.0001210894,0.8612826,0.00005164254,0.0001186822,0.07790369,0.0009855164,0.0004185316,0.04171874,0.00035113,0.0005021697,0.01598051],"study_design_scores_gemma":[0.00004918442,0.0002938918,0.8179761,0.00001896796,0.00005921994,0.1751751,0.0004952591,0.0004695783,0.003445065,0.0003084437,0.001693007,0.0000162249],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991806,0.0001313987,0.0001927106,0.00001792366,0.000001412155,0.00001048141,0.00007661537,0.000006021497,0.0003827865],"genre_scores_gemma":[0.9992887,0.0001036713,0.0002525647,0.00002181942,0.000004074439,0.000008420557,0.0001258539,0.000003407443,0.0001914559],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002068312,"threshold_uncertainty_score":0.006919205,"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."}}