{"id":"W4307042221","doi":"10.1159/000526022","title":"Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency","year":2022,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Hypertrophic cardiomyopathy; Medicine; Prenatal diagnosis; Intrauterine growth restriction; Presentation (obstetrics); Cardiomyopathy; Pediatrics; Mitochondrial respiratory chain; Pregnancy; Genetic counseling; Obstetrics; Fetus; Internal medicine; Heart failure; Genetics; Mitochondrion; Biology","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":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002360856,0.0003581021,0.0004501991,0.0002417487,0.0004232697,0.00002335942,0.0006270431,0.0003059101,0.001834709],"category_scores_gemma":[0.0001426377,0.0004033291,0.0003127127,0.0004233659,0.0001479934,0.000005203824,0.0009015771,0.0005379357,0.0002325329],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006205639,"about_ca_system_score_gemma":0.0002204794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004493924,"about_ca_topic_score_gemma":0.00001065392,"domain_scores_codex":[0.9967667,0.0007118512,0.0004711325,0.001048627,0.0003164431,0.0006851881],"domain_scores_gemma":[0.9986985,0.00001872265,0.0001238273,0.0008135185,0.00009657913,0.0002488548],"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":[0.0005033432,0.0001302683,0.0001809012,0.00001349087,0.0001029408,0.006206658,0.0001059182,0.00210548,0.9759629,0.0006976255,0.01320951,0.0007809825],"study_design_scores_gemma":[0.008666005,0.01274828,0.00168906,0.00001447972,0.0002548414,0.3307918,0.0005542816,0.0002059784,0.03485218,0.001398767,0.6059855,0.002838804],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9808613,0.0008037625,0.007341995,0.0007758342,0.003645665,0.0006730686,0.0002273515,0.0000754146,0.005595631],"genre_scores_gemma":[0.991117,0.00001200307,0.00184611,0.003752651,0.0002077413,0.0002327935,0.000927939,0.00007869789,0.001825089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9411107,"threshold_uncertainty_score":0.9998419,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01032406355880428,"score_gpt":0.2267836937001679,"score_spread":0.2164596301413637,"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."}}