{"id":"W4417399541","doi":"10.1016/j.pediatrneurol.2025.12.004","title":"The Impact of RNA Polymerase III–Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study","year":2025,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Western Ontario; London Health Sciences Centre; Western University; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa; McGill University Health Centre","funders":"National Institute of Neurological Disorders and Stroke; Fondation de l'Hôpital de Montréal pour enfants; Children's Hospital Foundation; Rare Diseases Clinical Research Network; Canadian Institutes of Health Research; McGill University Health Centre; National Center for Advancing Translational Sciences; Fonds de Recherche du Québec - Santé; Ministero della Salute; McGill University","keywords":"Leukodystrophy; Qualitative research; RNA; Qualitative analysis; MEDLINE; Polymerase chain reaction","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":[0.0004425229,0.0002228262,0.0004570477,0.0004233971,0.0001482489,0.00001126883,0.0002305175,0.0001137498,0.00005178383],"category_scores_gemma":[0.0004326176,0.0001425296,0.0002803885,0.001154248,0.0001879824,0.00001794995,0.0001079113,0.0005843334,0.00002051621],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002670572,"about_ca_system_score_gemma":0.0004303739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006844112,"about_ca_topic_score_gemma":0.00001262216,"domain_scores_codex":[0.9972757,0.001040385,0.0004480295,0.0004220053,0.000373484,0.0004404557],"domain_scores_gemma":[0.9977352,0.001307444,0.0001370967,0.0005326288,0.0001627215,0.0001248915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.09479034,0.03852786,0.5321994,0.0009115337,0.01330871,0.005277025,0.06518896,0.001930109,0.1059344,0.004155911,0.07163745,0.06613823],"study_design_scores_gemma":[0.03016381,0.04783367,0.9093532,0.00001698625,0.001496459,0.00007308299,0.006971485,0.001242107,0.001124727,0.0007486096,0.0004731416,0.0005026975],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926928,0.001386514,0.00001615197,0.0009678337,0.0001932461,0.001349051,0.000008371391,0.00004393088,0.003342127],"genre_scores_gemma":[0.9985736,0.000418273,0.000003730944,0.000327216,0.00006114124,0.00007439191,0.000006509882,0.00002393377,0.0005112142],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3771538,"threshold_uncertainty_score":0.5812188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01531357649847712,"score_gpt":0.3780201522623055,"score_spread":0.3627065757638283,"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."}}