{"id":"W2036493847","doi":"10.1016/j.ymgme.2014.03.011","title":"The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)","year":2014,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital; Ontario Institute for Cancer Research; University of Toronto","funders":"","keywords":"Marfan syndrome; Medicine; Transforming growth factor; Thoracic aortic aneurysm; Aortic aneurysm; Internal medicine; Aorta","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":[0.0004483918,0.000287266,0.0003806513,0.0001591878,0.0001963347,0.00009868279,0.0002120527,0.0001532419,0.00001430914],"category_scores_gemma":[0.0001994414,0.0002106042,0.00004178056,0.0003610871,0.0003858795,0.000008685118,0.0002886377,0.0001967338,7.678392e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006767293,"about_ca_system_score_gemma":0.00007560177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001183626,"about_ca_topic_score_gemma":0.0005535431,"domain_scores_codex":[0.9980629,0.0002941633,0.0003177358,0.0005880297,0.0002758128,0.0004613395],"domain_scores_gemma":[0.9990407,0.00007442955,0.0001214289,0.0004984561,0.00009099446,0.0001740317],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008640025,0.000592184,0.1240584,0.0004819913,0.001160651,0.0004360113,0.00104891,0.0001326268,0.8307375,0.002857669,0.00008134745,0.03754865],"study_design_scores_gemma":[0.001773373,0.001043007,0.953364,0.00004837069,0.0001704631,0.001019888,0.000310562,0.0005110861,0.03687694,0.00163453,0.002758905,0.0004889043],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859803,0.01177573,0.001140284,0.000299369,0.00005089415,0.0005453019,0.00002887202,0.000008722588,0.000170511],"genre_scores_gemma":[0.9955812,0.003509212,0.0005068375,0.00004717628,0.00001738753,0.00005083298,0.00002533864,0.00004982735,0.0002122556],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8293055,"threshold_uncertainty_score":0.8588188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007006951068104156,"score_gpt":0.2645311303106715,"score_spread":0.2575241792425674,"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."}}