Rare single nucleotide and copy number variants and the etiology of congenital obstructive...

KM Dell, EA Hartung - Pediatric Nephrology, 2024 - Springer

The finding of a simple kidney cyst in a child can pose a diagnostic and management
challenge for pediatric nephrologists, urologists, and primary care providers. The reported …

Developmental Causes of Focal Segmental Glomerulosclerosis

L Shane Klomp, E Levtchenko, R Westland - Glomerular Diseases, 2024 - karger.com

Background: Focal segmental glomerulosclerosis (FSGS) is a histological pattern of
glomerular damage that includes idiopathic conditions as well as genetic and non-genetic …

Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies

J Martino, Q Liu, K Vukojevic, J Ke, TY Lim, A Khan… - Genetics in …, 2023 - Elsevier

Purpose Previous work identified rare variants in DSTYK associated with human congenital
anomalies of the kidney and urinary tract (CAKUT). Here, we present a series of mouse and …

[HTML][HTML] The Applied Genomics Development Strategy by the Croatian Academy of Sciences and Arts paves the way for the future development of applied genomics in …

F Sedlic, J Sertić, A Markotić, D Primorac… - Croatian Medical …, 2024 - ncbi.nlm.nih.gov

Scientific discoveries and technological advancements have brought genomics into various
spheres of modern society. Applied genomics significantly affected health care, biosafety …

[HTML][HTML] Bridging the Gap in Genomic Implementation: Identifying User Needs for Precision Nephrology

JZ Kneifati-Hayek, T Zachariah, W Ahn, A Khan… - Kidney International …, 2024 - Elsevier

Introduction Genomic medicine holds transformative potential for personalized nephrology
care; however, its clinical integration poses challenges. Automated clinical decision support …