This study aims to inform future genetic reanalysis management by evaluating the yield of
whole-exome sequencing (WES) reanalysis in standard patient care in the Netherlands …

Advances in genome sequencing technologies have begun to revolutionize neurogenetics,
allowing the full spectrum of genetic variation to be better understood in relation to disease …

Purpose: Copy-number variation is a common source of genomic variation and an important
genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has …

Over the past five years the field of neurogenetics has yielded a wealth of data that have
facilitated a much greater understanding of the aetiology of many neurological diseases …

Patients with developmental disorders often harbour sub-microscopic deletions or
duplications that lead to a disruption of normal gene expression or perturbation in the copy …

The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of
data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a …

In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the
diagnostic process for patients with rare genetic syndromes, demonstrating its potential even …

Background Classifying pathogenicity of missense variants represents a major challenge in
clinical practice during the diagnoses of rare and genetic heterogeneous …

Simple Summary This review provides a general overview of neurological genetic disorders
that can emerge in adulthood. The goal is not to present an exhaustive list of adult-onset …

Increased application of next generation sequencing has led to the discovery of a multitude
of new neurodevelopmental syndromes, contributing to an increased diagnostic rate for …