{"id":"W4414855008","doi":"10.3390/ijns11040089","title":"Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience","year":2025,"lang":"en","type":"article","venue":"International Journal of Neonatal Screening","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre Hospitalier Universitaire Sainte-Justine; McGill University Health Centre; Montreal Children's Hospital","funders":"Canadian Institutes of Health Research; Ministère de la Santé; Fonds de Recherche du Québec - Santé; Ministère de la Santé et des Services sociaux","keywords":"Spinal muscular atrophy; Newborn screening; SMA*; Clinical trial; Atrophy; Pregnancy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"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":[0.002207788,0.0005942729,0.0003189319,0.0005050975,0.002287237,0.001103963,0.001510227,0.0006896921,0.003732389],"category_scores_gemma":[0.004129193,0.0002352942,0.0003917016,0.001203852,0.0007048236,0.0005367364,0.001105107,0.0009632059,0.0003595254],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.03272631,"about_ca_system_score_gemma":0.05318203,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9719474,"about_ca_topic_score_gemma":0.9831852,"domain_scores_codex":[0.9982223,0.0004405463,0.00005516992,0.0002076826,0.0005967764,0.0004774839],"domain_scores_gemma":[0.9944425,0.0004617876,0.0003638511,0.0002238112,0.001851697,0.002656335],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001028053,0.001757175,0.4593368,0.0005286913,0.0002644036,0.003011161,0.003450428,0.001899665,0.004695579,0.002317269,0.0842444,0.4374663],"study_design_scores_gemma":[0.0003060488,0.002546818,0.8934579,0.0004837833,0.0001229382,0.002156025,0.002500501,0.002878321,0.00174695,0.0001867799,0.09350998,0.0001039214],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9034356,0.01167261,0.004268964,0.02118072,0.0005311692,0.001647337,0.01266686,0.0006898246,0.04390698],"genre_scores_gemma":[0.955853,0.006823554,0.006548238,0.006130721,0.0001225772,0.0004240728,0.006273669,0.000159573,0.01766451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9672737,"threshold_uncertainty_score":0.2374471,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0210946696982146,"score_gpt":0.3511786016370921,"score_spread":0.3300839319388775,"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."}}