Newborn Screening Ontario

Recent papers from Newborn Screening Ontario

1. Long-Term Auditory and Language Outcomes in Children With Early-Identified Mild Bilateral and Unilateral Hearing LossEar and Hearing · 2026
2. A Systematic Review of Metachromatic Leukodystrophy Newborn Screening: Transitioning from Pilot Studies to the Real WorldInternational Journal of Neonatal Screening · 2026
3. Metabolic Reprogramming in Neurofibromatosis Type 1: Plasma Metabolomic Signatures of MEK Inhibition Selumetinib reshapes systemic metabolism in NF1Neuro-Oncology Advances · 2026
4. Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature reviewFrontiers in Endocrinology · 2026
5. Investigating the outcomes of pregnancies with atypical results following SNP-based cfDNA screening: a population-based cohort studyAmerican Journal of Obstetrics & Gynecology MFM · 2026
6. APPROACH TO THE PATIENT: Genetics and Management of Congenital HypothyroidismThe Journal of Clinical Endocrinology & Metabolism · 2026
7. Establishing Newborn Screening for SCID: The BC and Yukon ExperienceSHILAP Revista de lepidopterología · 2026
8. Newborn screening for hemoglobinopathies: a review of Canadian data from 2020 to 2023Paediatrics & Child Health · 2026
9. MetaCAM as an ensemble-based class activation mapping framework improves model explainabilityScientific Reports · 2026
10. Expanding the Phenotype of TUFM ‐ Related Combined Oxidative Phosphorylation Deficiency 4American Journal of Medical Genetics Part A · 2026
11. Using corpus luteum formation with dominant follicle collapse to improve the criteria for identifying ovulationReproductive BioMedicine Online · 2026
12. Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease-associated genes in the Hispanic population.2026
13. Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening.2026
14. Thyrotoxicosis in MCT8 deficiencyThe Journal of Clinical Endocrinology & Metabolism · 2026
15. A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population?Pediatric Pulmonology · 2025
16. Validation of Dried Blood Spot Immunoreactive Trypsinogen (DBS-IRT) as a Biomarker of Exocrine Pancreas Function in Children with Pancreas DiseaseThe American Journal of Gastroenterology · 2025
17. Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol MeasurementJournal of the Endocrine Society · 2025
18. B-181 Second-tier newborn screening for X-linked adrenoleukodystrophy: development, validation, and clinical application of an LC-MS/ MS method for the quantification of lysophosphatidylcholinesClinical Chemistry · 2025
19. Comprehensive comparison of enzymatic and bisulfite DNA methylation analysis in clinically relevant samplesClinical Epigenetics · 2025
20. Ocular Findings as the Most Striking Manifestation of a SMAD3 VariantAmerican Journal of Medical Genetics Part A · 2025