{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005123666,0.0001009188,0.0002054529,0.00002987628,0.0002188046,0.00001156636,0.0001565481,0.00009202982,0.00004454122],"category_scores_gemma":[0.00009547953,0.00005926927,0.00007572512,0.0002715369,0.0003233051,0.00001648853,0.0001496969,0.0002728071,0.00001467236],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001387953,"about_ca_system_score_gemma":0.000112084,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002184194,"about_ca_topic_score_gemma":0.00005117795,"domain_scores_codex":[0.9988151,0.0001018456,0.0004082973,0.0002010028,0.0002484299,0.0002253632],"domain_scores_gemma":[0.9992967,0.0001075479,0.0001111664,0.0003971951,0.00002974712,0.00005770668],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002902335,0.00008061367,0.9338956,0.0002392207,0.0001181168,0.00002047224,0.005300201,0.00001601509,0.006069588,0.049497,0.002303779,0.002430355],"study_design_scores_gemma":[0.0007397344,0.0002447079,0.9610708,0.0002812862,0.00009206405,0.00001685488,0.0004890594,0.0001587552,0.003218183,0.03233879,0.001247854,0.0001018961],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904586,0.002925085,0.00006208333,0.004430017,0.0002081797,0.0003070413,0.00000151809,0.00003660869,0.001570839],"genre_scores_gemma":[0.9489397,0.04995689,0.0001719997,0.0006774318,0.00006989482,0.000005858256,0.00000288998,0.00001796987,0.0001573112],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0470318,"threshold_uncertainty_score":0.2416931,"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."}}