MR Pollak, DJ Friedman - … Journal of the American Society of …, 2020 - journals.lww.com
The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic …
Key differences exist between clinical and research genomics. As genomic testing is adopted in nephrology clinical care, we propose focusing on clinical genomics approaches …
Technologies such as next-generation sequencing and chromosomal microarray have advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
S Prakash, AG Gharavi - Current Opinion in Nephrology and …, 2015 - journals.lww.com
Genetic testing may have broad benefits for patients and their families. Knowing the precise molecular etiology of disease can help clinicians determine the exact therapeutic course …
O Devuyst - Nature Reviews Nephrology, 2018 - nature.com
Technical advances in genome sequencing and association studies have yielded critical insights into the genetic architecture of kidney diseases. Here, I summarize four key studies …
Y Li, A Köttgen - American journal of kidney diseases, 2013 - ajkd.org
It has long been known that inherited kidney disor-ders such as polycystic kidney disease (PKD) can be caused by mutations in a single gene. These disorders are termed monogenic …
The cohort was 57% white, 16% black, 8% Hispanic, 2% Asian, and 15% other. The average age was 30 years but ranged from infancy to later adulthood, and only a minority had known …
Clinical genetics is increasingly recognized as an important area within nephrology care. Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes …
A Kesselheim, E Ashton… - Clinical Kidney …, 2017 - academic.oup.com
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic …