{"id":"W3154044939","doi":"10.1093/braincomms/fcab075","title":"International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy","year":2021,"lang":"en","type":"article","venue":"Brain Communications","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institutes of Health; National Institute of Neurological Disorders and Stroke; Institut National de la Santé et de la Recherche Médicale; National Institute for Health and Care Research; Cedars-Sinai Medical Center","keywords":"Natural history; LMNA; Natural history study; Medicine; Pediatrics; Retrospective cohort study; Cohort; Age of onset; Muscular dystrophy; Clinical trial; Internal medicine; Disease","routes":{"ca_aff":true,"ca_fund":false,"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":[0.001121368,0.0002690389,0.0002887699,0.0008234038,0.0004760267,0.0004331035,0.0002909112,0.0003704684,0.001140534],"category_scores_gemma":[0.001921943,0.0002676685,0.0003267873,0.0005848035,0.0004429524,0.0004125546,0.0005334769,0.0003846239,0.0002762811],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002534003,"about_ca_system_score_gemma":0.0002097539,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001064354,"about_ca_topic_score_gemma":0.0008802178,"domain_scores_codex":[0.9991724,0.0003201803,0.00009730829,0.0002519757,0.00008050932,0.00007764319],"domain_scores_gemma":[0.9979005,0.0004374173,0.0009233502,0.0002886204,0.000163563,0.0002865566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003429835,0.00005790968,0.9984175,0.000004960915,0.00002907315,0.000104319,0.00004860874,0.00002968518,0.0004509953,0.00001955066,0.00004341688,0.0004510437],"study_design_scores_gemma":[0.00001567959,0.0006256417,0.9981818,0.00000353594,0.00002008558,0.0005346658,0.00009256019,0.0001350532,0.0001504198,0.00001709605,0.0002187295,0.000004687469],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993747,0.0000771258,0.0001197898,0.000007159471,0.000002101605,0.00001627586,0.0002053478,0.000001856005,0.0001956124],"genre_scores_gemma":[0.9993469,0.00003290006,0.0001017779,0.00001917573,0.000006760922,0.00001956416,0.0004009907,0.0000015326,0.00007038676],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001140534,"threshold_uncertainty_score":0.005930424,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009725559768410677,"score_gpt":0.2414728810824333,"score_spread":0.2317473213140226,"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."}}