{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002835251,0.0001454801,0.000213016,0.0002646649,0.000147225,0.0001287092,0.0006622404,0.00005871189,0.0001497645],"category_scores_gemma":[0.0002264073,0.0001023145,0.000342376,0.0002902503,0.0001795714,0.0001728249,0.000219385,0.0004820665,0.000008558091],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005727954,"about_ca_system_score_gemma":0.00018839,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005094791,"about_ca_topic_score_gemma":0.0001924094,"domain_scores_codex":[0.9979541,0.00004646037,0.0004302742,0.0001930777,0.001121811,0.0002542478],"domain_scores_gemma":[0.9988528,0.00006291528,0.000174271,0.0002018097,0.0005890185,0.000119146],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001113574,0.00009117466,0.01830356,0.0000190151,0.0004456953,0.0005993892,0.0002865306,0.0001553272,0.0004582011,0.0003398157,0.0008254498,0.9773623],"study_design_scores_gemma":[0.002960334,0.0004915716,0.1712931,0.0007460316,0.00009314511,0.0007589666,0.002289505,0.001112432,0.0009779247,0.0000910068,0.8190466,0.0001393655],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.3569767,0.003675617,0.6213989,0.01566551,0.0006974525,0.0005913533,0.000005467705,0.00004616283,0.0009427616],"genre_scores_gemma":[0.9060595,0.0002158136,0.090939,0.001209638,0.0006379646,0.00002510194,0.00000892016,0.00002684962,0.0008771932],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.9772229,"threshold_uncertainty_score":0.4172263,"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."}}