{"id":"W4392155246","doi":"10.1016/j.ajhg.2024.01.013","title":"Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability","year":2024,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children’s Health Research Institute; Western University; Lawson Health Research Institute; London Health Sciences Centre","funders":"National Eye Institute; National Heart, Lung, and Blood Institute; Medical Research Council; Vlaamse regering; Ontario Genomics Institute; Fonds Wetenschappelijk Onderzoek; Government of Canada; Universiteit Gent; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; Nottingham Trent University; National Institutes of Health; Universiteit Antwerpen; Genome Canada; National Human Genome Research Institute; Marguerite-Marie Delacroix foundation; Trent University; Thrasher Research Fund","keywords":"Haploinsufficiency; DNA methylation; Biology; Transcription factor; Zinc finger; Homeotic gene; Homeobox; Genetics; Gene; Phenotype; Gene expression","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":[0.0003409696,0.0001669071,0.0002468568,0.0001006123,0.00007065869,0.00002979083,0.0004221143,0.00002953667,0.00002171486],"category_scores_gemma":[0.00007080124,0.0001270404,0.0001065024,0.0002475477,0.0005261732,0.000003849567,0.0001616307,0.0001994483,0.000003105788],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000329623,"about_ca_system_score_gemma":0.0002431801,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008811039,"about_ca_topic_score_gemma":0.00004312342,"domain_scores_codex":[0.9986197,0.0001117227,0.0005885464,0.0002155844,0.0002332873,0.0002311736],"domain_scores_gemma":[0.9993913,0.00006420182,0.0002201949,0.0002004784,0.000061522,0.00006235067],"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":[0.0001214918,0.0002499215,0.01329339,0.00004700416,0.0001081318,0.00001702646,0.003263763,0.001394884,0.971559,0.00002713503,0.0002488648,0.009669335],"study_design_scores_gemma":[0.0007939052,0.004906485,0.4995281,0.0002305923,0.0000907112,0.0004289782,0.003226487,0.0003486775,0.4830334,0.0003117649,0.006437783,0.0006631358],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979333,0.001357064,0.0002991261,0.00007325365,0.0001345393,0.00008706791,0.000004357976,0.000003498703,0.0001078005],"genre_scores_gemma":[0.998661,0.0005844447,0.0005746381,0.00008147891,0.00003393298,0.000002324412,0.000003484389,0.00002550971,0.00003314094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4885257,"threshold_uncertainty_score":0.5180559,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01914573168037768,"score_gpt":0.2741575277634233,"score_spread":0.2550117960830456,"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."}}