{"id":"W1986755103","doi":"10.1002/ajmg.a.33406","title":"Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin‐1 gene","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Sick child; Medicine; Obstetrics and gynaecology; University hospital; Medical genetics; Pediatrics; Family medicine; Pregnancy; Biology; Genetics","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":[0.000629106,0.0001475344,0.0002622204,0.0001100286,0.00004782505,0.00003238235,0.0004538212,0.00005265796,0.00002315208],"category_scores_gemma":[0.0001767182,0.00009439175,0.00005119885,0.0003111001,0.0006745874,0.000005975992,0.00005918803,0.0004764997,7.850558e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000213354,"about_ca_system_score_gemma":0.0005340227,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006155217,"about_ca_topic_score_gemma":0.007241777,"domain_scores_codex":[0.9980921,0.0001686253,0.0003553491,0.0001884595,0.0008106103,0.0003848288],"domain_scores_gemma":[0.9990976,0.0001367599,0.0001783203,0.0002349812,0.0001401348,0.0002122295],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004416558,0.00179011,0.7147672,0.0002604378,0.001132106,0.03169151,0.01161669,0.01528862,0.04988908,0.0008204356,0.0005068788,0.1678204],"study_design_scores_gemma":[0.0130564,0.0172491,0.6994862,0.0007489949,0.0001907688,0.1771019,0.05927683,0.003107369,0.0118855,0.00003665333,0.01651526,0.001345001],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968615,0.0004769686,0.00166389,0.0006884736,0.00006994299,0.0001604363,0.0000280109,0.000002376901,0.00004841312],"genre_scores_gemma":[0.9985785,0.0001118719,0.0009830206,0.0001168374,0.000138954,0.00001326448,0.00002291636,0.00001972926,0.00001489259],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1664754,"threshold_uncertainty_score":0.4041081,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01144669337969408,"score_gpt":0.2952692209250866,"score_spread":0.2838225275453926,"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."}}