{"id":"W4404503494","doi":"10.1002/ajmg.a.63940","title":"Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in <scp> <i>IDUA</i> </scp> May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; Sanofi; National Institute of Neurological Disorders and Stroke; Massachusetts General Hospital; National Human Genome Research Institute; National Institutes of Health","keywords":"Mucopolysaccharidosis type I; Newborn screening; Allele; Genotype; Disease; Cohort; Phenotype; Medicine; Internal medicine; Biology; Immunology; Genetics; Enzyme replacement therapy; Gene","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":[0.0006732496,0.0001967563,0.0001643897,0.0004619604,0.0003212013,0.0005191482,0.0002810235,0.0003336635,0.001232203],"category_scores_gemma":[0.002799794,0.0001193232,0.000214966,0.0005129603,0.0001956447,0.0003238718,0.0003114346,0.0004155504,0.0002164871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003355849,"about_ca_system_score_gemma":0.000241491,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008526652,"about_ca_topic_score_gemma":0.009443196,"domain_scores_codex":[0.9996743,0.0001311189,0.0000324852,0.00007375544,0.00003984822,0.00004850386],"domain_scores_gemma":[0.998892,0.0002173639,0.0005090325,0.0001111188,0.0001344887,0.0001359958],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005401413,0.00001883136,0.9978343,0.000004693766,0.00001712848,0.0000672765,0.00005808398,0.00002414906,0.0001736068,0.00002376272,0.0001247257,0.001599358],"study_design_scores_gemma":[0.000001919352,0.00004631523,0.9994318,0.000005476681,0.00001656098,0.0001070589,0.00008134781,0.0001066002,0.000061583,0.00003616495,0.0001033575,0.000001743086],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989495,0.0001169323,0.00009420566,0.00008686283,0.000004867587,0.00000469934,0.000375403,0.000002790176,0.0003647713],"genre_scores_gemma":[0.9994408,0.00006844546,0.00007210863,0.00003971146,0.000006714847,0.000006057276,0.0002430553,7.992779e-7,0.0001223231],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008526652,"threshold_uncertainty_score":0.01695406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04984003539234352,"score_gpt":0.3962883927315713,"score_spread":0.3464483573392277,"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."}}