Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with
renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent …

Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …

Copy number variations associate with different developmental phenotypes and represent a
major cause of congenital anomalies of the kidney and urinary tract (CAKUT). Because rare …

Purpose: To investigate the utility of whole-exome sequencing (WES) to define a molecular
diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary …

Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of
diagnostics and clinical medicine. From a nephrologist's perspective, individuals with …

Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of
structural malformations that result from defects in the morphogenesis of the kidney and/or …

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of
CKD in children, featuring a broad variety of malformations. A monogenic cause can be …

The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT)
encompasses a common birth defect in humans that has significant impact on long-term …

During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …