{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007535463,0.0006522285,0.0003163298,0.0006674977,0.0002847008,0.0001511898,0.0002280452,0.0003362124,0.001402811],"category_scores_gemma":[0.0002261133,0.000121189,0.0004042469,0.0004534457,0.0003756056,0.00008360352,0.0004001021,0.0003460495,0.0001526379],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001654345,"about_ca_system_score_gemma":0.0002288876,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001319765,"about_ca_topic_score_gemma":0.002406317,"domain_scores_codex":[0.999882,0.000008875893,0.00001410806,0.00004627621,0.00003345995,0.0000153453],"domain_scores_gemma":[0.9998953,0.00002059417,0.0000406692,0.000007324614,0.000005823674,0.00003022964],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0007920482,0.0001013006,0.06765682,0.0001726436,0.0003043528,0.1010191,0.0002645254,0.0004790167,0.812184,0.0007471382,0.0006424303,0.01563666],"study_design_scores_gemma":[0.0001281238,0.000452014,0.6072898,0.00004637926,0.000280363,0.2441206,0.000215352,0.002720853,0.1387215,0.0006595824,0.005321234,0.00004426553],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951903,0.0002260518,0.00305756,0.00006047236,0.00001913203,0.00002250939,0.0009751901,0.00007882322,0.000370061],"genre_scores_gemma":[0.9962589,0.0001654687,0.002210733,0.00005369617,0.00001209968,0.00001333166,0.0006864364,0.00001384833,0.0005856225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001402811,"threshold_uncertainty_score":0.004692912,"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."}}