{"id":"W4387077502","doi":"10.1007/s00439-023-02598-2","title":"CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence","year":2023,"lang":"en","type":"article","venue":"Human Genetics","topic":"Birth, Development, and Health","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Hospital for Sick Children; Lakeridge Health; SickKids Foundation; University of Toronto; Regional Municipality of Durham; University of Alberta","funders":"Fundação de Amparo à Pesquisa do Estado de São Paulo; University of Alberta; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Rare Disease Foundation; Women and Children's Health Research Institute","keywords":"Biology; Craniosynostosis; Genetics; Sanger sequencing; Exome sequencing; Phenotype; Mutation; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002567091,0.0007992933,0.0005022345,0.001164723,0.00033994,0.0004596197,0.0003322439,0.0009512574,0.003200233],"category_scores_gemma":[0.000614737,0.000143186,0.0002089528,0.0008355786,0.0006202887,0.0004657535,0.0004425554,0.0004966389,0.0006843732],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000200885,"about_ca_system_score_gemma":0.0001948988,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007271119,"about_ca_topic_score_gemma":0.0005348338,"domain_scores_codex":[0.9998272,0.00002908453,0.00002731368,0.00005978433,0.00003395899,0.0000227098],"domain_scores_gemma":[0.9996153,0.0001336166,0.00009194985,0.00002368301,0.00005005075,0.00008536025],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001463211,0.0003123293,0.2527964,0.001307472,0.0002141828,0.3212261,0.0009533397,0.0008308661,0.1991349,0.006551115,0.007900314,0.2073097],"study_design_scores_gemma":[0.0001236077,0.0003100375,0.1977234,0.0003579307,0.000192751,0.7450153,0.0004399761,0.001355903,0.01445251,0.003535771,0.03643403,0.00005888948],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9304805,0.0389184,0.008111233,0.006288609,0.0001311517,0.00005465256,0.001355017,0.0003609278,0.01429939],"genre_scores_gemma":[0.9759514,0.01540873,0.005306213,0.0007409272,0.0005150959,0.00002684219,0.0006989998,0.0000317013,0.001320061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003200233,"threshold_uncertainty_score":0.01070583,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0967495748948673,"score_gpt":0.4004519769973969,"score_spread":0.3037024021025296,"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."}}