Purpose Male infertility remains poorly understood at the molecular level. We aimed in this
study to investigate the yield of a “genomics first” approach to male infertility. Methods …

Female infertility is a relatively common phenotype with a growing number of single gene
causes although these account for only a minority of cases. Here, we report a consanguineous …

There is a growing interest in standardizing gene-disease associations for the purpose of
facilitating the proper classification of variants in the context of Mendelian diseases. One key …

Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium
dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. …

Zika virus (ZIKV) is an emerging arbovirus of the Flaviviridae family and is related to dengue,
Chikungunya, West Nile, yellow fever, and Japanese encephalitis viruses. ZIKV was first …

Viral mutations acquired during the course of chronic hepatitis B virus (HBV) infection are
known to be associated with the progression and severity of HBV-related liver disease. This …

Hepatitis B virus (HBV) infection is a leading cause of liver diseases including cirrhosis and
hepatocellular carcinoma. Human leukocyte antigens (HLAs) play an important role in the …

Intussusception is the leading cause of intestinal obstruction in children and is almost
invariably idiopathic. Occasionally, there is a lead point for the intussusception. Intussusception …

Background: Brucellosis is among the most common zoonotic bacterial infections, leading
to major public health consequences in endemic areas such as Saudi Arabia. Primary …

The identification of sand fly species is important for prediction of disease risks. A method of
typing Sergentomyia and Phlebotomus taxa in three areas in Saudi Arabia was investigated …