{"id":"W4406018006","doi":"10.1136/jmg-2024-110219","title":"Sexual dimorphism in <i>SMAD3</i> pathogenic variant-harbouring individuals","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; Izaak Walton Killam Health Centre; Children's Hospital of Eastern Ontario","funders":"H2020 European Research Council; Third Health Programme; European Commission; Vlaamse regering; Universiteit Antwerpen; Fonds Wetenschappelijk Onderzoek; Hartstichting","keywords":"Sexual dimorphism; Pedigree chart; Aortic dissection; Ascending aorta; Penetrance; Aorta; Medicine; Aortic aneurysm; Internal medicine; Cohort; Missense mutation; Aneurysm; Biology; Surgery; Genetics; Phenotype; Gene","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":[0.0007556605,0.0001271086,0.0002201319,0.0001309565,0.00003524697,0.00002738564,0.0004900923,0.0002502398,0.000045507],"category_scores_gemma":[0.0003481122,0.0001097188,0.000106869,0.0001325241,0.00006714831,0.000002226047,0.0002175425,0.0002606976,0.000002390895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001781919,"about_ca_system_score_gemma":0.0006755009,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004386544,"about_ca_topic_score_gemma":0.00001466992,"domain_scores_codex":[0.9984949,0.00008523445,0.0005479518,0.0001719123,0.0004634567,0.0002365713],"domain_scores_gemma":[0.999294,0.0000293785,0.000169505,0.0001987834,0.0000878418,0.0002204487],"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":[0.0004669349,0.002239763,0.1891348,0.0003640159,0.001210003,0.004009895,0.0004896909,0.001932455,0.6178682,0.001025688,0.04321577,0.1380428],"study_design_scores_gemma":[0.01656421,0.002597855,0.3071783,0.001027082,0.0006627392,0.002828332,0.001287316,0.001216099,0.08335274,0.004717025,0.5769407,0.00162756],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861983,0.01042618,0.001368274,0.001130102,0.0005462329,0.00006641026,0.00001276428,0.000002058355,0.0002496815],"genre_scores_gemma":[0.9944959,0.002855447,0.0007635953,0.00121096,0.000500397,0.000002204525,0.00001042279,0.00001342765,0.0001476562],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5345155,"threshold_uncertainty_score":0.4474204,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007548377017125821,"score_gpt":0.2645345929356984,"score_spread":0.2569862159185726,"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."}}