{"id":"W7116838294","doi":"10.1212/nxg.0000000000200339","title":"Pediatric Cohort of Charcot-Marie-Tooth Disease","year":2025,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Cohort; Disease; Genetic diagnosis; Cohort study; Genetic testing; Pediatric hospital","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009988338,0.0001999179,0.0002651525,0.0001967227,0.0000885679,0.00001077117,0.0005923212,0.0001531192,0.000158765],"category_scores_gemma":[0.001823447,0.0001934516,0.00009951768,0.0006069348,0.0003774496,0.00003555299,0.000267788,0.0003575185,0.00006870586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004652537,"about_ca_system_score_gemma":0.0001298335,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003186275,"about_ca_topic_score_gemma":0.000002539612,"domain_scores_codex":[0.9979172,0.0003469952,0.0003739133,0.0006789418,0.000257428,0.000425554],"domain_scores_gemma":[0.9983178,0.0007943251,0.0001044702,0.0005803679,0.0000423507,0.0001606575],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002757839,0.0003372886,0.9701143,0.00006801609,0.00000710979,0.0001992679,0.00001423525,0.001447726,0.02027686,0.002683328,0.002779402,0.001796711],"study_design_scores_gemma":[0.000617085,0.0005284576,0.962939,0.000001505244,0.0001021846,0.0000045865,9.387757e-7,0.002433878,0.00897847,0.006174063,0.01801627,0.0002035386],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912724,0.0004344925,0.0001858248,0.002776684,0.0009143958,0.0004032666,0.00004381963,0.0001049092,0.003864177],"genre_scores_gemma":[0.9838742,0.001209089,0.00003142325,0.01454103,0.00008573382,0.00002903573,0.000003235544,0.00001957695,0.0002066727],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01523687,"threshold_uncertainty_score":0.7888728,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01715203416465538,"score_gpt":0.2588006073856821,"score_spread":0.2416485732210267,"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."}}