{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000411221,0.0006067436,0.0007761054,0.0009017448,0.001891027,0.000957871,0.000645068,0.001003152,0.0013404],"category_scores_gemma":[0.00209753,0.0003258928,0.0008567938,0.0007787061,0.0009472887,0.0004164042,0.001302046,0.001146149,0.0002171718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001803428,"about_ca_system_score_gemma":0.000964787,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008520192,"about_ca_topic_score_gemma":0.004425936,"domain_scores_codex":[0.9994597,0.0000917104,0.00006467979,0.00007782218,0.00007103374,0.0002350882],"domain_scores_gemma":[0.9988392,0.0002606702,0.0002576638,0.0000928017,0.0001297131,0.0004199947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0008548783,0.000341363,0.973106,0.00001455428,0.00005154777,0.02177655,0.0004310505,0.000250866,0.0005208896,0.0001034255,0.0001174182,0.002431464],"study_design_scores_gemma":[0.0002790434,0.005319307,0.9322668,0.00003215804,0.0001797754,0.05544588,0.003087711,0.001191071,0.001205092,0.0004706332,0.0004391304,0.00008354775],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993461,0.00005026282,0.00006805361,0.00004945343,0.00000566926,0.00001343655,0.00007716714,0.000003378494,0.0003864087],"genre_scores_gemma":[0.9994318,0.00004117174,0.0000806855,0.00003251891,0.000009539285,0.00001283084,0.0001970889,0.000002611293,0.0001917726],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008520192,"threshold_uncertainty_score":0.01694119,"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."}}