{"id":"W2006295937","doi":"10.1038/gim.2015.45","title":"Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening","year":2015,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Methylenetetrahydrofolate reductase; Homocysteine; Asymptomatic; Pediatrics; Medicine; Newborn screening; Internal medicine; Biology; Genetics; Allele","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":[0.0004182734,0.0001427566,0.0003912173,0.0002755005,0.0000202062,0.000002858492,0.0001051957,0.00008605535,0.00003068586],"category_scores_gemma":[0.0005458284,0.00009503321,0.00002281977,0.0005338388,0.0001575801,0.0000330152,0.00004164801,0.0002059733,0.000003135333],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004782906,"about_ca_system_score_gemma":0.00006354423,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002826682,"about_ca_topic_score_gemma":0.0002540192,"domain_scores_codex":[0.9982528,0.00006214421,0.0003663448,0.0002098489,0.0008565035,0.0002523694],"domain_scores_gemma":[0.9989845,0.00008259684,0.00009838785,0.0003109938,0.0003395601,0.0001839326],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003317925,0.0001201403,0.9265161,0.00004382208,0.00005767317,0.000006035805,0.0003122909,0.00004797352,0.002287783,0.000001610533,0.0008623111,0.06941249],"study_design_scores_gemma":[0.01173224,0.003155722,0.9787363,0.0001883961,0.00007460992,0.000002108748,0.0003013083,0.001096712,0.001034606,0.00006055892,0.003505313,0.0001120577],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991925,0.0008106802,0.004760835,0.001101978,0.00006386381,0.0004806705,0.000007216066,0.00001933647,0.0008304269],"genre_scores_gemma":[0.9899983,0.0001180208,0.009213061,0.00008948727,0.00004676601,0.000008647321,0.0001174775,0.00002639181,0.0003818602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06930044,"threshold_uncertainty_score":0.3875342,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04152456252904275,"score_gpt":0.3136190062087518,"score_spread":0.2720944436797091,"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."}}