{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007445989,0.00007851543,0.000095704,0.00003490489,0.00007236173,0.000008037875,0.0003677353,0.00006875387,0.00009683668],"category_scores_gemma":[0.0001568742,0.00008439066,0.00007696436,0.00008317921,0.0001037166,0.000005668901,0.0003058795,0.0001540088,0.000004975185],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005834698,"about_ca_system_score_gemma":0.00005825839,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004023606,"about_ca_topic_score_gemma":0.0001602808,"domain_scores_codex":[0.9993225,0.0001282829,0.0001828826,0.0001812484,0.0001123225,0.00007278303],"domain_scores_gemma":[0.9986485,0.00001941197,0.00008939886,0.0009617507,0.000256261,0.00002471503],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006992464,0.0008142346,0.006742592,0.000005301691,0.0008948142,0.000006975982,0.001321434,0.00002269862,0.9666043,0.002797396,0.01761867,0.003101647],"study_design_scores_gemma":[0.002847649,0.0006150576,0.1340343,0.00001296181,0.0001341401,0.00008021636,0.00306221,0.0004369447,0.008131265,0.0002830956,0.8499732,0.0003889675],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9808588,0.001669291,0.00004707111,0.0008016354,0.0006326863,0.0001518204,0.00001943048,0.00001692468,0.01580236],"genre_scores_gemma":[0.9966805,0.00008604767,0.0008450592,0.0001640295,0.00005694396,0.0000112333,0.0003357402,0.00001344604,0.001806999],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.958473,"threshold_uncertainty_score":0.3441351,"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."}}