In medical genetics, the vast majority of patients with a currently known genetic basis harbor
a rare deleterious allele explaining its Mendelian inheritance. Increasingly, for these …

Hirschsprung disease is a congenital malformation where ganglia of the neural crest-
derived enteric nervous system are missing over varying lengths of the distal gastrointestinal …

The major genetic risk factors for Hirschsprung disease (HSCR) are three common
polymorphisms within cis-regulatory elements (CREs) of the receptor tyrosine kinase gene …

Introduction: As a congenital and genetically related disease, many single nucleotide
polymorphisms (SNPs) have been reported to be associated with the risk of HSCR. Our …

For the past four decades, genetic investigations have largely focused on the discovery of
high impact genetic variants that drive disease pathogenesis. This endeavour has been …