RESULTS OF WHOLE EXOME SEQUENCING IN NEONATES WITH NEONATAL ENCEPHALOPATHY
Objective: to assess the detection rate of monogenic disorders in neonates with encephalopathy using whole-exome sequencing. Materials and Methods. A cohort descriptive study was conducted at the Ural Research Institute for Maternal and Child Health in 2024–2025. Whole-exome sequencing (WES) results fr...