The lemur family of protein kinases has gained much interest in recent years as they are
involved in a variety of cellular processes including regulation of axonal transport and …

Unexplained global developmental delay (GDD) and intellectual disabilities (ID) together
affect nearly 2% of the pediatric population. Establishing an etiologic diagnosis is crucial for …

Purpose Widespread application of next-generation sequencing, combined with data
exchange platforms, has provided molecular diagnoses for countless families. To maximize …

Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital
myopathy and Native American myopathy (NAM), is a condition caused by biallelic …

Variations in the gene encoding filamin-A-interacting protein 1 (FILIP1) were identified to be
associated with a combination of neurological and muscular symptoms. While FILIP1 was …

Inherited white matter disorders (IWMD), or leukodystrophies (LD), are genetic disorders
primarily affecting the white matter of the central nervous system (CNS), with or without …

This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric
patients presenting with developmental delay/intellectual disability (DD/ID), while also …

Abstract HERC2-associated neurodevelopmental-disorders (NDD) encompass a cluster of
medical conditions that arise from genetic mutations occurring within the HERC2 gene …

Primary familial brain calcification (PFBC), often called Fahr's disease, is a condition in
which calcium phosphate accumulates in the brain, mainly in the basal ganglia, thalamus …

We describe eighteen individuals from twelve families with an autosomal recessive
neurodevelopmental disorder and variable leukodystrophy harbouring biallelic variants in …