{"id":"W4376649520","doi":"10.1016/j.ajhg.2023.04.008","title":"The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder","year":2023,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Dalhousie University; University of Toronto; Alberta Children's Hospital; University of Calgary; Hospital for Sick Children","funders":"Natural Sciences and Engineering Research Council of Canada; Autism Speaks; King Abdulaziz University; Hospital for Sick Children; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw; Canadian Institutes of Health Research; National Institute for Health and Care Research","keywords":"Autism spectrum disorder; Spectrum (functional analysis); Neurodevelopmental disorder; Medicine; Psychology; Psychiatry; Physics","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":[0.000578152,0.0001459323,0.0002023061,0.00003535756,0.000275709,0.00002630478,0.0006474108,0.00003420809,0.000003308121],"category_scores_gemma":[0.00006636659,0.00007807493,0.0001680215,0.0002718283,0.001247097,0.000001605515,0.0004010988,0.0002165822,0.000002304843],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004182089,"about_ca_system_score_gemma":0.0001014178,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004002137,"about_ca_topic_score_gemma":0.00001761444,"domain_scores_codex":[0.9984448,0.0002607525,0.0006335996,0.0001655642,0.0002614522,0.0002338617],"domain_scores_gemma":[0.9988925,0.00004971644,0.0005683454,0.0003586623,0.00006561943,0.00006515759],"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":[0.0002330516,0.00016533,0.184615,0.00001422371,0.0006114646,0.00001726594,0.0006598199,0.0009619145,0.7645633,0.0003153107,0.004313665,0.04352965],"study_design_scores_gemma":[0.0006547031,0.001205746,0.9613401,0.00001395933,0.00006259465,0.00009520346,0.0008428352,0.00005240026,0.02620922,0.00148725,0.00785538,0.0001805726],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968832,0.0009355095,0.00002382917,0.001673262,0.0002487828,0.0001248732,0.000003530235,0.000003065511,0.0001040103],"genre_scores_gemma":[0.9959668,0.003383721,0.00008113027,0.0003522093,0.00002773379,0.000001812646,0.000002414883,0.00002705321,0.000157151],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7767251,"threshold_uncertainty_score":0.459498,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01040948217404992,"score_gpt":0.2754261701617717,"score_spread":0.2650166879877218,"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."}}