The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family
consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects …

BACKGROUND: Intravascular intrauterine transfusion (IUT) is considered a safe procedure,
but complications still occur, including fatalities. OBJECTIVE: Review the outcomes of Rh …

Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of
cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous …

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 …

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 …

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2,200 previously unpublished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 …

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 …

Objective Congenital hydrocephalus is an important birth defect, the genetics of which remains
incompletely understood. To date, only 4 genes are known to cause Mendelian diseases …

Purpose The application of genomic sequencing to investigate unexplained death during
early human development, a form of lethality likely enriched for severe Mendelian disorders, …

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