Toll-like receptor (TLR) activation induces inflammatory responses in macrophages by
activating temporally defined transcriptional cascades. Whether concurrent changes in the …

Innate immune responses vary by pathogen and host genetics. We analyze quantitative trait
loci (eQTLs) and transcriptomes of monocytes from 215 individuals stimulated by fungal …

Aims The present study aims to characterize the genetic risk architecture of bicuspid aortic
valve (BAV) disease, the most common congenital heart defect. Methods and results We …

Background Gastric cancer (GC) is clinically heterogenous according to location (cardia/non-
cardia) and histopathology (diffuse/intestinal). We aimed to characterize the genetic risk …

Classic bladder exstrophy represents the most severe end of all human congenital
anomalies of the kidney and urinary tract and is associated with bladder cancer …

Genetic associations between variants on chromosome 5p13 and 8q24 and gastric cancer
(GC) have been previously reported in the Asian population. We aimed to replicate these …

Objective Oesophageal cancer (EC) is the sixth leading cause of cancer-related deaths.
Oesophageal adenocarcinoma (EA), with Barrett's oesophagus (BE) as a precursor lesion …

Congenital lower urinary tract obstructions (LUTO) are most often caused by posterior
urethral valves (PUV), a male limited anatomical obstruction of the urethra affecting 1 in …

Background Syndromic brain malformations comprise a large group of anomalies with a
birth prevalence of about 1 in 1,000 live births. Their etiological factors remain largely …

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs
approximately 1 in 3.500 live births representing the most common malformation of the …