{"id":"W4399738908","doi":"10.1002/ajmg.c.32089","title":"Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Fondazione Telethon","keywords":"Blepharophimosis; Phenotype; Genetics; Biology; SWI/SNF; Intellectual disability; Noonan syndrome; Gene; Chromatin; Chromatin remodeling; Ptosis","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001343126,0.0004935798,0.0002751419,0.0007808495,0.0002565242,0.0002997518,0.0001966653,0.0003793851,0.002933732],"category_scores_gemma":[0.0006722474,0.0001377748,0.0001604073,0.0003883598,0.0004894851,0.0002106467,0.0005534936,0.0002910308,0.0002753198],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001395708,"about_ca_system_score_gemma":0.0001822371,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008786584,"about_ca_topic_score_gemma":0.0006983152,"domain_scores_codex":[0.9997568,0.00003061673,0.0000199656,0.00007581891,0.00005738721,0.00005939222],"domain_scores_gemma":[0.9997908,0.00004279337,0.00007334344,0.0000200616,0.00001777916,0.00005522321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008701314,0.0002647707,0.5416527,0.0001600573,0.0002096831,0.108873,0.001672069,0.0002819946,0.2891453,0.00304608,0.0007815728,0.05304267],"study_design_scores_gemma":[0.00003800023,0.0005168748,0.7377295,0.00002140949,0.00006283842,0.2465026,0.0004296226,0.0003651334,0.01056299,0.0009446763,0.002804329,0.00002195741],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967306,0.0003331664,0.0003391959,0.0000328772,0.000007254262,0.00001518258,0.00008842778,0.00001686785,0.002436543],"genre_scores_gemma":[0.9988502,0.0001350546,0.0003073372,0.00002784482,0.00001171718,0.000008495286,0.0001333921,0.000003780893,0.0005222248],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002933732,"threshold_uncertainty_score":0.009814322,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007314838200602185,"score_gpt":0.2809752269004753,"score_spread":0.2736603886998731,"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."}}