Background: Periventricular leukomalacia (PVL) affects the developing white matter of
neonatal brain. Inflammatory and infectious conditions are implicated in the cause of PVL. …

In this study, we report the experience of the only reference clinical next-generation sequencing
lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected …

The purpose of this study was to identify the biochemical and genetic defect in l-2-hydroxyglutaric
aciduria, a neurometabolic disorder characterized by the presence of elevated …

Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable
progress has been made in understanding the molecular basis of these genetically …

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The
list of monogenic forms of ID has increased rapidly in recent years thanks to the …

The objective of this study was to describe the clinical course of acute transverse myelitis in
children, to identify prognostic factors, and to compare our findings with published data. …

Objective: To investigate the clinical, genetic, and neuroradiologic data of biotin-responsive
basal ganglia disease (BBGD) and clarify the disease spectrum. Methods: We first …

Purpose Establishing links between Mendelian phenotypes and genes enables the proper
interpretation of variants therein. Autozygome, a rich source of homozygous variants, has …

Purpose Congenital microcephaly (CM) is an important birth defect with long term neurological
sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients …

Purpose Whole-exome sequencing (WES) can help identify known and novel pathogenic
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …