{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001446807,0.000612808,0.0004056756,0.0008159003,0.0003038713,0.0002707088,0.000381301,0.0006212113,0.003292311],"category_scores_gemma":[0.0003262563,0.0001684124,0.0003460681,0.0004468517,0.0007454381,0.000112436,0.0005243714,0.0005544653,0.000544281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002255081,"about_ca_system_score_gemma":0.0002997298,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001322411,"about_ca_topic_score_gemma":0.002552312,"domain_scores_codex":[0.9998337,0.00001853594,0.00002150172,0.00003530324,0.00005914413,0.00003191591],"domain_scores_gemma":[0.9996921,0.0001024494,0.00008026325,0.00002394209,0.00001328421,0.00008794176],"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":[0.0003356212,0.00006925056,0.00551615,0.00008292263,0.00007387195,0.00976737,0.00007027438,0.0002626945,0.9733743,0.0007191733,0.0008133768,0.008914962],"study_design_scores_gemma":[0.0003203294,0.0003820726,0.1423427,0.00005080896,0.0003206561,0.06664151,0.0003769248,0.004533075,0.7677803,0.001830362,0.01536309,0.00005817676],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906261,0.0008209308,0.003895394,0.0002582942,0.0001152355,0.00003040291,0.001478143,0.0003363664,0.002439044],"genre_scores_gemma":[0.9968773,0.0002777829,0.0009726517,0.0000605725,0.00001963012,0.00001355552,0.0005370883,0.00006225662,0.001179252],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003292311,"threshold_uncertainty_score":0.01101393,"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."}}