{"id":"W4377966548","doi":"10.1101/2023.05.22.23289895","title":"A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; Western University; London Health Sciences Centre","funders":"National Eye Institute; Medical Research Council; Ontario Genomics Institute; Fonds Wetenschappelijk Onderzoek; Government of Canada; Vlaamse regering; Universiteit Gent; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; Bijzonder Onderzoeksfonds UGent; National Institutes of Health; Universiteit Antwerpen; Ontario Genomics; Genome Canada; National Human Genome Research Institute; Marguerite-Marie Delacroix foundation; Thrasher Research Fund","keywords":"Homeobox; Chromatin immunoprecipitation; DNA methylation; Zinc finger; Haploinsufficiency; Biology; Homeotic gene; Transcription factor; Gene expression; Promoter; Gene; Genetics; Phenotype","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001969213,0.000354335,0.0003518297,0.00008175474,0.00007472,0.00001644882,0.0006459932,0.0003193479,0.00002006179],"category_scores_gemma":[0.00007764099,0.0003063965,0.0002375138,0.0002039391,0.000185013,0.000001996074,0.001423735,0.000267131,0.000009698794],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001880093,"about_ca_system_score_gemma":0.0002340807,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003697455,"about_ca_topic_score_gemma":0.0000328175,"domain_scores_codex":[0.998031,0.00006106356,0.0005448651,0.0006950541,0.0003709811,0.0002970162],"domain_scores_gemma":[0.9987088,0.00001495877,0.0003750921,0.0007322908,0.00009903937,0.00006985281],"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":[0.00002873172,0.0001301454,0.03113665,0.0001333692,0.0001592154,0.000003654123,0.00005552165,0.0003503069,0.9664422,0.000003288369,0.001412827,0.000144137],"study_design_scores_gemma":[0.0004599989,0.0001237782,0.6611235,0.00006436579,0.00005216399,0.00001490805,0.00001701961,0.00002229068,0.3359001,0.00006019076,0.001842201,0.0003195094],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966068,0.0003811008,0.0005996795,0.0001911617,0.001401524,0.0004191003,0.0003041381,0.00001766565,0.00007878737],"genre_scores_gemma":[0.9973712,0.0004740974,0.0003026309,0.0001612021,0.00001896834,0.00005855816,0.0004010179,0.00008396686,0.001128374],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6305421,"threshold_uncertainty_score":0.9999388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01960744819079802,"score_gpt":0.2307088702547333,"score_spread":0.2111014220639353,"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."}}