Open access
Oct 2026
The NBGENS project protocol: Pilot study for genetic newborn screening in Galicia
Background Conventional newborn screening (NBS) relies on mainly biochemical assays and remains limited by its dependence on detectable biomarkers within a narrow postnatal window, leaving many treatable genetic disorders unidentified. Advances in next-generation sequencing have enabled projects of genomic newborn scre...
L. Lis-López, Catalina López-López, Laura López-Valverde et al.
· PLoS ONE · 0 citations