{"id":"W4406235500","doi":"10.1016/j.ajhg.2024.12.012","title":"DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders","year":2025,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; McMaster Children's Hospital","funders":"Common Fund; National Institute of Child Health and Human Development; Else Kröner-Fresenius-Stiftung; NIH Office of the Director; HORIZON EUROPE Framework Programme; National Human Genome Research Institute; Medical Research Council; National Institutes of Health; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Manchester Biomedical Research Centre; Deutsche Forschungsgemeinschaft; Austrian Science Fund; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission","keywords":"Biology; Missense mutation; Genetics; Phenotype; Zinc finger; Chromatin immunoprecipitation; Transcription factor; Gene; Promoter; Gene expression","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":[0.000627762,0.0001359552,0.0002965035,0.0001394073,0.0007963741,0.00001890832,0.0005979832,0.00004478523,0.00004643084],"category_scores_gemma":[0.00003707272,0.00008490519,0.00009402268,0.0003229837,0.001364584,0.00003717586,0.0003330391,0.0005397994,0.000007686952],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003296086,"about_ca_system_score_gemma":0.0000402653,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001025009,"about_ca_topic_score_gemma":0.00005119283,"domain_scores_codex":[0.9988373,0.0003607111,0.0003900493,0.0001165093,0.00004804909,0.0002474009],"domain_scores_gemma":[0.9990906,0.0002227586,0.0004019472,0.0002387106,0.00004036228,0.000005637028],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.00114624,0.0009132972,0.1298843,0.00003512886,0.001067082,0.00001779418,0.02740732,0.0008262458,0.3404956,0.003372123,0.0004046412,0.4944302],"study_design_scores_gemma":[0.002702832,0.0009203549,0.9535472,0.0001083252,0.0002524832,0.00007462907,0.0234825,0.00003127272,0.007898354,0.006936806,0.003715764,0.0003294357],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9879975,0.01043167,0.00004098364,0.0005715192,0.0002751081,0.0001005911,0.000002609073,0.000006965246,0.00057302],"genre_scores_gemma":[0.9986977,0.0008886907,0.000009038291,0.0001356517,0.000003343291,7.319302e-7,0.000001690343,0.000006033619,0.0002571512],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8236629,"threshold_uncertainty_score":0.6125146,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01157459368841009,"score_gpt":0.2389848437332749,"score_spread":0.2274102500448648,"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."}}