Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

The inherited osteolyses or'vanishing bone'syndromes are a group of rare disorders of unknown
etiology characterized by destruction and resorption of affected bones. The multicentric …

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 …

Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop
eye and skeletal abnormalities. Autosomal-recessive and autosomal-dominant forms of …

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

The accumulation of advanced glycation end products (AGEs) in the tissue and serum of
subjects with diabetes has been linked to the pathogenesis of vascular complications. Because …

The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and
extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal …

Genome-wide association studies (GWAS) of colorectal cancer (CRC) have identified 23
susceptibility loci thus far. Analyses of previously conducted GWAS indicate additional risk loci …

Background Molecular genetics techniques are an essential diagnostic tool for primary
immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides a …

Objective The pathologic basis of systemic juvenile idiopathic arthritis (JIA) is a subject of
some controversy, with evidence for both autoimmune and autoinflammatory etiologies. …