{"id":"W2025545048","doi":"10.1002/ajmg.a.32356","title":"Williams syndrome in a preterm infant with phenotype of Alagille syndrome","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"Alagille syndrome; Phenotype; Sepsis; Microarray; Locus (genetics); Medicine; Pediatrics; Biology; Genetics; Immunology; Internal medicine; Gene; Cholestasis","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":[0.0009751085,0.0002338237,0.0008742025,0.0004068535,0.00006488149,0.0000150079,0.001127771,0.00009895549,0.0002588862],"category_scores_gemma":[0.001102847,0.000173373,0.0001286389,0.001343254,0.002271646,0.0001194447,0.0001864316,0.0008413289,0.0000264027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007236972,"about_ca_system_score_gemma":0.0008594073,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006401629,"about_ca_topic_score_gemma":0.00001293635,"domain_scores_codex":[0.9941921,0.0004099064,0.001012038,0.0003479439,0.003407701,0.0006302969],"domain_scores_gemma":[0.9975158,0.0005390742,0.0006587207,0.0004306784,0.0001503468,0.0007054052],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00317906,0.00595937,0.62074,0.000657182,0.0006798283,0.2022076,0.009347752,0.003506805,0.06913548,0.0004500225,0.002610657,0.08152628],"study_design_scores_gemma":[0.01025335,0.04208322,0.5676546,0.003590548,0.0001399481,0.3277464,0.0008251113,0.002673146,0.03102826,0.0003532786,0.01200224,0.001649907],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979656,0.0003262192,0.0002083956,0.0008717147,0.0001493999,0.0001989486,0.000007099211,0.00001052859,0.0002621091],"genre_scores_gemma":[0.9964362,0.002113032,0.001041036,0.0002372642,0.0000369073,0.000007861558,4.93434e-7,0.00004100282,0.00008624835],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1255388,"threshold_uncertainty_score":0.8369974,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02954254212566658,"score_gpt":0.2925804489249742,"score_spread":0.2630379067993076,"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."}}