[HTML][HTML] Introduction to genomics of kidney disease: Implications, discovery, and translation

MG Sampson, CS Fox - Clinical Journal of the American Society of …, 2020 - journals.lww.com
In both clinical care and research, genetics and genomics are no longer solely in the domain
of geneticists and basic science researchers. On the clinical side, there is expanding …

The genetic architecture of kidney disease

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 …

Clinical versus research genomics in kidney disease

AJ Mallett, N Knoers, J Sayer, Z Stark - Nature Reviews Nephrology, 2021 - nature.com
Key differences exist between clinical and research genomics. As genomic testing is
adopted in nephrology clinical care, we propose focusing on clinical genomics approaches …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

Diagnosing kidney disease in the genetic era

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 …

Unveiling the genetic architecture of kidney disease

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 …

Genetic investigations of kidney disease: Core curriculum 2013

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 …

Genetic analysis in kidney disease: Advancing clinical diagnosis and research discovery

W Besse - Kidney360, 2020 - journals.lww.com
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 …

Exploring the impact and utility of genomic sequencing in established CKD

J Jefferis, AJ Mallett - Clinical Kidney Journal, 2024 - academic.oup.com
Clinical genetics is increasingly recognized as an important area within nephrology care.
Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes …

Potential and pitfalls in the genetic diagnosis of kidney diseases

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 …