Background Exome sequencing is emerging as a first-line diagnostic method in some clinical
disciplines, but its usefulness has yet to be examined for most constitutional disorders in …

Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we
report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 …

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 …

Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney
disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in …

… loci, including nine known and 11 novel loci based on P < 5 × 10 −8 . We detected no … and
P-values for each individual cohort. We additionally identified eight suggestive signals with P …

… The P value is provided for each comparison between 2 modes of inheritance, for the pLI …
The p.G624D missense variant in the COL4A5 gene, a founder variant conferring a milder form …

Background Genomic disorders (GDs) are associated with many comorbid outcomes, including
CKD. Identification of GDs has diagnostic utility. Methods We examined the prevalence …

… We used a P value threshold of 7.58×10 −9 , (5×10 −8 ÷ 2.2 ÷ 3) as a conservative threshold
for genome-wide statistical significance of associations and 1.52×10 −7 (20×5×10 −8 ÷ 2.2 …

In the version of this article initially published, affiliation 38 incorrectly read “ICNU-Nephrology
and Urology Department, Barcelona, Spain”;“Renal Division, Hospital Clinic, IDIBAPS, …

Sample processing protocols that enable compatible recovery of differentially expressed
transcripts and proteins are necessary for integration of the multiomics data applied in the …