Associated Papers
Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.
Yin Y et al.
Human Genomics, 2026
Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Huang X et al.
Biomedical Reports, 2025
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.
Ye L et al.
International Journal of Neonatal Screening, 2024
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
37656460 (PubMed )
Supplement: jamanetwopen-e2331162-s001.pdf
Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.
Ye L et al.
Frontiers in Pediatrics, 2023
Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.
Zheng Z et al.
Annals of Translational Medicine, 2020
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