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International Journal of Neonatal Screening|April 24, 2026
A Systematic Process to Accurately Link Large-Scale Research Consents to State Public Health Newborn Screening SamplesEmily Cheves, Hannah E Frawley, Angela You Gwaltney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)Wendy E Smith, Susan A Berry, Kaitlyn Bloom, et al.
Circulation Research|August 13, 2015
A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart DiseasesKitchener D Wilson, Peidong Shen, Eula Fung, et al.
The Journal of Pediatrics|November 13, 2016
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born PrematureKarl G Sylvester, Zachary J Kastenberg, R Larry Moss, et al.
American Journal of Human Genetics|March 6, 2026
Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check programNathan C Gaddis, Katerina S Kucera, Heidi L Cope, et al.
Genetics|September 21, 2005
The role of selection in the evolution of human mitochondrial genomesToomas Kivisild, Peidong Shen, Dennis P Wall, et al.
Plos Biology|June 23, 2004
Integrative analysis of the mitochondrial proteome in yeastHolger Prokisch, Curt Scharfe, David G Camp, et al.
Frontiers in Genetics|August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)Amy Brower, Kee Chan, Marc Williams, et al.
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