{"id":"W4408219252","doi":"10.1038/s41431-025-01798-w","title":"ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature","year":2025,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; London Health Sciences Centre; Western University","funders":"Normandie Université; Centre Hospitalier Universitaire de Nantes; Centre National de la Recherche Scientifique; Sorbonne Université; Institut National de la Santé et de la Recherche Médicale; Universität Zürich; Quest Diagnostics; Ontario Genomics Institute; Assistance publique-Hôpitaux de Paris; Leids Universitair Medisch Centrum; Universiteit Leiden; Government of Canada; Institut des maladies génétiques Imagine; Université de Bourgogne; McGill University; McGill University Health Centre; Ontario Genomics; Genome Canada","keywords":"Epigenetics; Phenotype; Signature (topology); Genetics; Biology; Computational biology; Epigenesis; Clinical phenotype; Evolutionary biology; Gene; DNA methylation; Gene expression; Mathematics","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":[],"consensus_categories":[],"category_scores_codex":[0.0007513317,0.00009634798,0.0002007008,0.00005097178,0.00003387536,0.000007644666,0.0002507078,0.00007541802,0.000006679156],"category_scores_gemma":[0.00008659353,0.00007268679,0.0001149742,0.00008412414,0.0001610306,0.000003506946,0.00008715878,0.0001501383,1.322139e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004150422,"about_ca_system_score_gemma":0.00007836281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001922693,"about_ca_topic_score_gemma":0.000008537343,"domain_scores_codex":[0.9985242,0.0002870854,0.0008433703,0.0001223063,0.0001475102,0.00007547063],"domain_scores_gemma":[0.9986919,0.00001354109,0.0006958971,0.0002536804,0.0003118421,0.00003315284],"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":[0.00006601417,0.0002324812,0.02364264,0.0000624186,0.0001748908,4.381359e-7,0.0003644847,0.006701699,0.9481779,0.0000251898,0.000182098,0.02036971],"study_design_scores_gemma":[0.005952731,0.004293747,0.61914,0.000725246,0.0007381131,0.00002644867,0.0006727018,0.003237659,0.3604493,0.000756349,0.00362719,0.0003805152],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859141,0.005103403,0.008473006,0.00004655549,0.0001986668,0.00008059303,0.00001287621,0.000001304103,0.0001694741],"genre_scores_gemma":[0.9967521,0.0005922875,0.002368737,0.00004860964,0.00008459607,1.331344e-7,0.00001022861,0.00001612699,0.0001271893],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5954974,"threshold_uncertainty_score":0.2964081,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02108344104944067,"score_gpt":0.2915924381172892,"score_spread":0.2705089970678486,"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."}}