{"id":"W4416538556","doi":"10.1093/bjd/ljaf468","title":"Darier disease is a syndromic epidermal differentiation disorder","year":2025,"lang":"en","type":"article","venue":"British Journal of Dermatology","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Darier's disease; Dyskeratosis; Darier Disease; Disease; Congenital disease","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":[0.001091006,0.0007781035,0.001178398,0.000674455,0.001252038,0.001411694,0.001001575,0.01073061,0.001967748],"category_scores_gemma":[0.005700391,0.0002970854,0.0007074849,0.0006257864,0.002276486,0.001248685,0.001271542,0.01037732,0.001505656],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007116412,"about_ca_system_score_gemma":0.0009709672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002005153,"about_ca_topic_score_gemma":0.002261332,"domain_scores_codex":[0.9987059,0.0002001645,0.0002073204,0.0002822436,0.0003667317,0.0002376992],"domain_scores_gemma":[0.9978297,0.001272334,0.0003351498,0.00006756226,0.0002940497,0.0002010616],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0001497376,0.00004302462,0.004108509,0.0005643392,0.0001007497,0.2254062,0.00141583,0.0002468507,0.003517136,0.02385593,0.7033716,0.03721999],"study_design_scores_gemma":[0.0001086303,0.0001007027,0.002944302,0.0004080235,0.00007832034,0.3382291,0.0004494598,0.000348418,0.001175178,0.009890931,0.6461987,0.0000681955],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.01994307,0.04249312,0.001831958,0.8010384,0.1067747,0.00005410087,0.0003793921,0.0003378932,0.02714737],"genre_scores_gemma":[0.2117139,0.03948243,0.002707648,0.5490558,0.1757174,0.00006335782,0.0003347188,0.0001640131,0.02076076],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01073061,"threshold_uncertainty_score":0.006582797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002964498460434208,"score_gpt":0.2248026715746838,"score_spread":0.2218381731142496,"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."}}