Beom Hee Lee

1 Introduction Continued technical advances in next-generation sequencing have established whole-genome sequencing (WGS) as a powerful diagnostic tool for rare genetic disorders, particularly in neonates and infants [1, 2]. During the neonatal period, clinical manifestations are often incomplete or nonspecific, limiting the diagnostic yield of phenotype-driven targeted tests.

March 01, 2022; 98 (9) Research Article A Systematic Review and Meta-analysis First published January 11, 2022, DOI: https://doi.org/10.1212/WNL.0000000000013296 Abstract Background and Objectives Although the recent approval of selumetinib is expected to transform the management of children with neurofibromatosis type 1 (NF1), particularly those with symptomatic and inoperable plexiform neurofibromas, no systematic review has summarized its efficacy and safety based on the latest studies.