Marcin Zaniew

TL;DR: A genome-wide association study of IgA nephropathy (IgAN), the most common form of glomerulonephritis, with discovery and follow-up in 20,612 individuals of European and East Asian ancestry is performed, suggesting a possible role for host–intestinal pathogen interactions in shaping the genetic landscape of IgAN.

TL;DR: The majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases and should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.

TL;DR: Genome-wide analysis of copy number variants in 2,824 cases across the phenotypic spectrum of CAKUT sheds light on the genomic architecture of disease and identifies TBX6 as a driver forCAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

TL;DR: Whole-exome sequencing is a genome-wide testing approach that allows selective sequencing of the protein-coding regions of the genome, which are enriched for disease-associated variants and is emerging as a preferred diagnostic tool for hereditary disorders.

TL;DR: A recurrent 370‐kb deletion at the 22q11.2 locus is identified as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies.