Steroid-resistant nephrotic syndrome (SRNS) represents the second most frequent cause of
chronic kidney disease in the first three decades of life. It manifests histologically as focal …

Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease
in childhood and has a significant risk of rapid progression to end-stage renal disease. The …

Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport
syndrome (COL4A3–COL4A5) in as many as 30% of individuals with focal and segmental …

The total number of acquired melanocytic nevi on the skin is strongly correlated with
melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia …

Background The aim of this study was to elucidate whether genetic screening test results of
pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity …

Abstract Purpose A Renal Genetics Clinic (RGC) was established to optimize diagnostic
testing, facilitate genetic counseling, and direct clinical management. Methods Retrospective …

Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused
by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor …

Proteinuric kidney diseases are a group of disorders with diverse pathological mechanisms
associated with significant losses of protein in the urine. The glomerular filtration barrier …

Next-generation sequencing (NGS) has led to the identification of previously unrecognized
phenotypes associated with classic kidney disease genes. In addition to improving …