Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

Congenital brain malformations are abnormalities present at birth that can result from
developmental disruptions at various embryonic or fetal stages. The clinical presentation is …

Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of
developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an …

Purpose Common diagnostic next-generation sequencing strategies are not optimized to
identify inherited variants in genes associated with dominant neurodevelopmental disorders …

Background Inflammation and white matter injury are consequences of neonatal
intraventricular hemorrhage (IVH). Both white matter and the neuroimmune system are …

CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized
by generalized overgrowth, developmental delay/intellectual disability (DD/ID), autism …

Background and definition In recent years thanks to the growing use of radiological
assessment, Chiari I malformation became one of the major diseases for a neurosurgeon to …

OBJECTIVE Inherited variants predisposing patients to type 1 or 1.5 Chiari malformation
(CM) have been hypothesized but have proven difficult to confirm. The authors used a …

Originally described as a risk factor for autism, CHD8 loss‐of‐function variants have recently
been associated with a wider spectrum of neurodevelopmental abnormalities. We further …

Next-generation sequencing (NGS) has revealed large numbers of genetic variants in
LGMD-related genes, with most of them classified as variants of uncertain significance …