{"id":"W4391563658","doi":"10.1016/j.ajhg.2024.01.007","title":"Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt","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":18,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Eye Institute; National Institute on Aging; National Institutes of Health; National Research Foundation of Korea; National Institute of General Medical Sciences; National Institute for Health and Care Research; Horizon Therapeutics; Amicus Therapeutics; Pfizer; Japan Agency for Medical Research and Development; Chiesi Farmaceutici; National Human Genome Research Institute; Takeda Science Foundation","keywords":"Biology; Genetics; Missense mutation; Exome sequencing; Exome; Haploinsufficiency; Intellectual disability; Germline mosaicism; Germline; Hypotonia; Neurodevelopmental disorder; Phenotype; Gene","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":[0.0002285935,0.000237279,0.0002606651,0.000113638,0.0001127539,0.00007928413,0.000372294,0.00003793529,0.000008644626],"category_scores_gemma":[0.0000165118,0.0001546979,0.0000562857,0.000307633,0.0003071275,0.00000795805,0.0000801331,0.0002782191,0.000001647882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003277491,"about_ca_system_score_gemma":0.000244763,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009145623,"about_ca_topic_score_gemma":0.0004617895,"domain_scores_codex":[0.9985732,0.0001611941,0.0003627807,0.0002887452,0.0003120778,0.0003019843],"domain_scores_gemma":[0.9992498,0.00001571743,0.0003125716,0.0002147062,0.00009980264,0.00010747],"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":[0.004427384,0.002734239,0.2819346,0.0001211136,0.001899583,0.001164539,0.00738869,0.009469529,0.5276265,0.0001048761,0.001541288,0.1615877],"study_design_scores_gemma":[0.0009901199,0.007070701,0.9867674,0.0001498324,0.0000640679,0.0001745439,0.001361761,0.0001320794,0.001183003,0.00006264256,0.001673038,0.0003708463],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998455,0.0008944444,0.0001089114,0.0001765395,0.0001090845,0.0001493115,0.00001510514,0.000007622542,0.00008400567],"genre_scores_gemma":[0.998669,0.0005381135,0.0004100352,0.0001855495,0.00004600211,0.000005616061,0.00002553796,0.00005370152,0.00006647203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7048328,"threshold_uncertainty_score":0.6308397,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0120691039942532,"score_gpt":0.2520345885220211,"score_spread":0.2399654845277679,"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."}}