More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …

Congenital anomalies of the lower urinary tract (CALUT) are a family of birth defects of the
ureter, the bladder, and the urethra. CALUT includes ureteral anomaliesc such as congenital …

For almost 15 years, genome research has focused on the search for major risk factors in
common diseases, with disappointing results. Only recently, whole-genome association …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …

Repair of DNA double-strand breaks (DSBs) by non-homologous end joining is critical for
neural development, and brain cells frequently contain somatic genomic variations that …

Kidney failure, the decrease of kidney function below a threshold necessary to support life, is
a major cause of morbidity and mortality. We performed a genome-wide association study …

Congenital anomalies of the kidneys or lower urinary tract (CAKUT) are the most common
causes of renal failure in children and account for 25% of end-stage renal disease in adults …

The objective of this study was to characterize the prevalence, demographic risk factors, and
malformations associated with agenesis and hypoplasia of the corpus callosum diagnosed …

Recent studies suggest that copy number variations (CNVs) encompassing several genes
involved in neurodevelopmental pathways are associated with a variety of neuropsychiatric …

Abstract Background The Nuclear Factor I (NFI) multi-gene family encodes site-specific
transcription factors essential for the development of a number of organ systems. We …