By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls
and 1,077 trios, we identified a genome-wide significant association between rare loss-of-…

Bloodstream infections by Salmonella enterica serovar Typhimurium constitute a major health
burden in sub-Saharan Africa (SSA). These invasive non-typhoidal (iNTS) infections are …

We then identified a patient with a homozygous CYBC1/EROS mutation in a resource article
that details 1000 Saudi Arabian families with genetic disease. 4 He presented with fever, …

Tumor necrosis factor receptor–associated factor 3 (TRAF3) is a central regulator of immunity.
TRAF3 is often somatically mutated in B cell malignancies, but its role in human immunity …

Intestinal epithelial cells (IECs) play a key role in regulating immune responses and controlling
infection. However, the direct role of IECs in restricting pathogens remains incompletely …

KPTN-related disorder is an autosomal recessive disorder associated with germline variants
in KPTN (previously known as kaptin), a component of the mTOR regulatory complex …

Recognition of influenza A virus (IAV) by the innate immune system triggers pathways that
restrict viral replication, activate innate immune cells, and regulate adaptive immunity. …

Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterised by
opportunistic infection and sterile granulomatous inflammation. CGD is caused by a failure of …

Genome-wide association studies (GWAS) have identified numerous genetic loci underlying
human diseases, but a fundamental challenge remains to accurately identify the underlying …

Trio-based whole-exome sequence (WES) data have established confident genetic
diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering …