{"id":"W3093236990","doi":"10.1017/cjn.2020.229","title":"Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations","year":2020,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; McMaster Children's Hospital; Western University; Children's Hospital of Western Ontario; SickKids Foundation; University of Toronto; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"AveXis; Biogen","keywords":"SMA*; SMN1; Spinal muscular atrophy; Medicine; Neuromuscular disease; Physical therapy; Pediatrics; Physical medicine and rehabilitation; Disease; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":true,"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":[0.004144486,0.0005731682,0.0004574626,0.001637743,0.002680098,0.001251864,0.002952893,0.00296729,0.0126323],"category_scores_gemma":[0.01701417,0.0004714365,0.001011861,0.001019224,0.001140818,0.00132112,0.002546364,0.002597916,0.002504763],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.02580937,"about_ca_system_score_gemma":0.09937748,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8125334,"about_ca_topic_score_gemma":0.8669835,"domain_scores_codex":[0.9955717,0.0008398425,0.0005336788,0.0002960307,0.001880791,0.0008778773],"domain_scores_gemma":[0.9830015,0.001423337,0.0008377093,0.0003319299,0.009880423,0.004525177],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001126339,0.0001931301,0.04088283,0.0009729159,0.00004254287,0.003087197,0.001561422,0.0008260373,0.002016932,0.006010169,0.7835839,0.1607102],"study_design_scores_gemma":[0.0002150813,0.0002086752,0.1512311,0.005674848,0.0001008285,0.002285977,0.002029481,0.0016402,0.0009503335,0.003744464,0.8317739,0.0001451402],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.02966473,0.02468508,0.01645591,0.6647882,0.006613995,0.004631275,0.01032602,0.001517011,0.2413178],"genre_scores_gemma":[0.3303138,0.08753315,0.1517286,0.271906,0.004679429,0.007236186,0.01611577,0.0008184327,0.1296686],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.1874666,"threshold_uncertainty_score":0.3771411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1272294793030602,"score_gpt":0.3289332631279309,"score_spread":0.2017037838248707,"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."}}