Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …

Background In order to facilitate the diagnostic process for adult patients suffering from a
rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the …

Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the
significant number of individuals with suspected but undiagnosed rare genetic diseases …

Background Clinical exome sequencing (CES) provides a comprehensive and effective
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …

Purpose Exome sequencing (ES) and genome sequencing (GS) are diagnostic tests for rare
genetic diseases. Studies report clinical utility of ES/GS. The goal of this systematic review is …

Background: Leukodystrophies are a heterogeneous group of disorders affecting the white
matter of the central nervous system, with or without affecting the peripheral nervous system …

Abstract Introduction/Aims Exome sequencing (ES) has proven to be a valuable diagnostic
tool for neuromuscular disorders, which often pose a diagnostic challenge. The aims of this …

Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare
diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and …