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 …

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2,200 previously unpublished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 …

Clinical syndromes caused by defects in the primary cilium are heterogeneous but there are
recurrent phenotypic manifestations that define them as a collective group known as …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from
54 countries with a wide phenotypic spectrum. Clinical information given by the requesting …

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 …

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem
involvement. So far, 18 BBS genes have been identified and the majority of them are essential for …

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 …

Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the connective
tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting …

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

Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods
such as exome sequencing (ES), few studies are available regarding the advantages of …