{"id":"W3045264265","doi":"10.1038/s41436-020-0898-y","title":"De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome","year":2020,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":53,"is_retracted":false,"has_abstract":false,"ca_institutions":"Victoria Hospital; London Health Sciences Centre; Western University","funders":"National Institute for Health and Care Research; Agence Nationale de la Recherche; Francis Crick Institute; Wellcome Trust","keywords":"Blepharophimosis; Genetics; Biology; Phenotype; SWI/SNF; Intellectual disability; Chromatin remodeling; DNA methylation; Chromatin; 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":[0.0003402849,0.0002780452,0.0003796955,0.00002132958,0.00009507865,0.00003304248,0.000306826,0.000156312,0.0001852799],"category_scores_gemma":[0.0004946397,0.0001904267,0.0000408719,0.0002356694,0.0003907618,0.000004229096,0.0002234151,0.0002611222,0.00000646748],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005367598,"about_ca_system_score_gemma":0.0001785999,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005757725,"about_ca_topic_score_gemma":0.0008436678,"domain_scores_codex":[0.9981855,0.0001562069,0.0004097809,0.0006415916,0.0002343652,0.0003725354],"domain_scores_gemma":[0.9988822,0.0001463323,0.00009320731,0.0005157468,0.00004796321,0.0003145324],"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":[0.008329199,0.001110665,0.3053074,0.001168272,0.00264627,0.003495565,0.03456958,0.00859529,0.5538577,0.00002925419,0.02446134,0.05642943],"study_design_scores_gemma":[0.07153304,0.03041832,0.6597818,0.004843772,0.003648242,0.01941968,0.01497722,0.07504331,0.05614277,0.01050647,0.04598785,0.007697538],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850342,0.002528124,0.00733112,0.004473194,0.00008270624,0.0003872325,0.00005411742,0.00001859808,0.00009071255],"genre_scores_gemma":[0.9928533,0.0005377302,0.004222485,0.00184017,0.0003015382,0.00002941528,0.00008625726,0.00004338411,0.00008567006],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4977149,"threshold_uncertainty_score":0.7765374,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02973455648345367,"score_gpt":0.2667014819278343,"score_spread":0.2369669254443806,"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."}}