{"id":"W4408343388","doi":"10.1111/cge.14722","title":"Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Children's Hospital Foundation","keywords":"Marfan syndrome; Medicine; Genotype; Pediatrics; Internal medicine; Exon; Gastroenterology; Genetics; Surgery; Biology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004929077,0.000283211,0.0003877281,0.0004696148,0.0002201028,0.0003203826,0.0001782387,0.0004960527,0.0006548351],"category_scores_gemma":[0.003388633,0.0001533055,0.0003068319,0.0004253387,0.0002701743,0.0002582402,0.0002149644,0.0003733496,0.0001638673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002509441,"about_ca_system_score_gemma":0.0001866419,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001275248,"about_ca_topic_score_gemma":0.001037779,"domain_scores_codex":[0.9996247,0.0001260779,0.00005149347,0.00006468382,0.00006245256,0.00007055339],"domain_scores_gemma":[0.9986393,0.0004428792,0.0005406568,0.00006105711,0.00008731268,0.0002288174],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002327855,0.00002603009,0.996164,0.000006695358,0.0000276321,0.0008047056,0.00006152077,0.0001645736,0.0003582817,0.00001265937,0.00006530098,0.0020759],"study_design_scores_gemma":[0.00001379304,0.0003089256,0.9950939,0.000007209878,0.00002698057,0.004009178,0.00009566767,0.0001784325,0.0001226953,0.00003152132,0.0001060241,0.000005638358],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994684,0.0002612524,0.00004048319,0.0000247336,0.000003121627,0.000001660976,0.00007069024,0.000002351889,0.0001273736],"genre_scores_gemma":[0.9996079,0.0001024257,0.00006146183,0.00001178182,0.000006697413,0.000003901053,0.0001612747,0.000001662785,0.00004302188],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001275248,"threshold_uncertainty_score":0.00260675,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02304977605355682,"score_gpt":0.3426487615639152,"score_spread":0.3195989855103584,"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."}}