Mitochondria are multifaceted organelles with key roles in anabolic and catabolic
metabolism, bioenergetics, cellular signalling and nutrient sensing, and programmed cell …

Many patients suffering from epilepsy undergo exome or genome sequencing as part of a
diagnostic work‐up, however, many remain genetically unsolved. There are various factors …

Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in
every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM …

Background The aim of the study was to characterize molecular diagnoses in patients with
childhood-onset progressive neurological disorders of suspected genetic etiology. Methods …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Non‐immune hydrops fetalis (NIHF) has multiple genetic etiologies diagnosable by exome
sequencing (ES). We evaluated the yield of prenatal ES for NIHF, and the contribution of …

Methods A systematic search was conducted using the following search terms
(simplified):“Whole exome sequencing (WES),”“Whole genome sequencing (WGS),”“IMD,”“ …

White matter abnormalities of the central nervous system (CNS) include acquired diseases
such as multiple sclerosis and acute demyelinating encephalitis (ADEM), as well as …

Medizinisch notwendige genetische Diagnostik ist eine Leistung der gesetzlichen
Krankenversicherung. Die steigende Relevanz dieser Diagnostik für die Kinder-und …

Genomic testing has been available for neurological conditions for decades. However, in
recent years, there has been a significant change in its availability, range and cost, as well …