Abstract
Whole-exome sequencing (WES) was featured prominently in the first issue of Neurology® Genetics,(1) and this technology again contributed to identification of a homozygous AMPD2 mutation as the cause of a neurodevelopmental syndrome published in this issue.(2) A different approach to analysis of a large number of exons is described by Tian and collaborators(3) and discussed by Bönnemann and colleagues,(4) both in this issue.