Background Prospective genetic evaluation of patients at our referral research hospital
presents clinical research challenges. Objective This study sought not only a single-gene …

As human genomics research in Africa continues to generate large amounts of data, ethical
issues arise regarding how actionable genetic information is shared with research …

Background Clinical exome sequencing (CES) provides a comprehensive and effective
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …

Background: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of
genetic disorders affecting immune function. In this report, a 17-month-old Malay patient …

To determine the diagnostic yield of Next-generation sequencing (NGS) in suspect Primary
Immunodeficiencies Diseases (PIDs). This systematic review was conducted following …

Inborn errors of immunity (IEI) are inherited monogenic disorders resulting in defective
immune response. Non‐infectious presentations are increasingly more apparent. Widely …

The advent of next-generation sequencing (NGS) technologies has greatly expanded our
understanding of both the clinical spectra and genetic landscape of inborn errors of …

Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which
defects in the immune system lead to an increased susceptibility to infections and other …

Purpose Early identification of inborn errors of immunity (IEIs) is crucial due to the significant
risk of morbidity and mortality. This study aimed to describe the genetic causes, clinical …

Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and
rare conditions. The implementation of a robust and effective quality control system for …