{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003679314,0.0003868666,0.000400125,0.0009702233,0.001732843,0.0006676576,0.0005951155,0.000247062,0.002067896],"category_scores_gemma":[0.0009964496,0.0002209191,0.0002701779,0.001745811,0.0004567119,0.0002537407,0.0005896588,0.0004270792,0.0002529503],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003185294,"about_ca_system_score_gemma":0.007181664,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.5937368,"about_ca_topic_score_gemma":0.6258915,"domain_scores_codex":[0.9994401,0.00003030456,0.00002538545,0.0001341481,0.0001911143,0.0001788951],"domain_scores_gemma":[0.999029,0.00005445225,0.0002590622,0.00005170344,0.0003761066,0.0002296858],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002714869,0.00001192994,0.9967518,0.000007684884,0.00001387015,0.0008181578,0.0002384966,0.00004543391,0.0003709694,0.00004323277,0.0003580814,0.001313278],"study_design_scores_gemma":[0.000004166623,0.00005396848,0.9950058,0.00001336605,0.00001744963,0.003109384,0.0007969365,0.0001031839,0.0001214095,0.00002381184,0.000744916,0.000005600155],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996937,0.0001822619,0.0001240029,0.0000469895,0.000004971188,0.00003503825,0.001491856,0.00001046983,0.001167433],"genre_scores_gemma":[0.9978142,0.0003165321,0.0002032483,0.00004445289,0.000005772357,0.00002139031,0.001322979,0.0000055357,0.000265863],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5937368,"threshold_uncertainty_score":0.8173115,"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."}}