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International Journal of Neonatal Screening|November 24, 2025
Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping ReviewTerence Diane Fabella, Joery den Hoed, Lidewij Henneman, et al.International Journal of Neonatal Screening|December 27, 2024
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 WorldwideAllysa M Kuypers, Marelle J Bouva, J Gerard Loeber, et al.International Journal of Neonatal Screening|December 27, 2024
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in ItalyVincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, et al.International Journal of Neonatal Screening|December 27, 2024
N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Screening AssaysC Austin Pickens, Samyukta Sah, Rahul Chandrappa, et al.International Journal of Neonatal Screening|December 22, 2023
Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn PopulationAmy Gaviglio, Michael Lasarev, Ruthanne Sheller, et al.International Journal of Neonatal Screening|January 22, 2024
Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and OpportunitiesZohreh Talebizadeh, Valerie Hu, Monir Shababi, et al.International Journal of Neonatal Screening|January 22, 2024
A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early DetectionColleen Donnelly, Lissette Estrella, Ilona Ginevic, et al.International Journal of Neonatal Screening|January 22, 2024
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic FibrosisPia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, et al.International Journal of Neonatal Screening|March 27, 2024
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UKRachel S Carling, Katy Hedgethorne, Anupam Chakrapani, et al.International Journal of Neonatal Screening|March 19, 2024
Droplet Digital PCR (ddPCR) Does Not Enhance the Sensitivity of Detection of Cytomegalovirus (CMV) DNA in Newborn Dried Blood Spots Evaluated in the Context of Newborn Congenital CMV (cCMV) ScreeningNelmary Hernandez-Alvarado, Craig J Bierle, Mark R SchleissPageof 65