Khalid Alsaleem

TL;DR: 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 Mendelian phenotypes suggests that most “negative” clinical exome tests are unsolved due to interpretation rather than technical limitations.

TL;DR: The influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome) is described and the cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.

TL;DR: Although the incidence of pediatric IBD in Saudi Arabian children is lower than suggested in the Western literature, there is a significantly increasing trend over time, however, decreased trend in the younger age group over time is identified.

TL;DR: EO-IBD exhibits a unique clinical phenotype with a strikingly higher familial aggregation in early-onset ulcerative colitis, which suggests a significant genetic impact on the onset of CD in the very young children.

TL;DR: This study recruited four cooperative families in which the healthy consanguineous parents had at least two affected children with early onset CD, consistent with autosomal recessive inheritance, and proceeded with autozygosity mapping using AgileMultiIdeogram followed by whole-exome sequencing.