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 …

The genetics of common kidney disease: a pathway toward clinical relevance

PE Drawz, JR Sedor - Nature Reviews Nephrology, 2011 - nature.com
Genome-wide association studies (GWASs) have advanced our understanding of the
genetic basis for common renal diseases, including chronic kidney disease (CKD) and …

Diagnoses of uncertain significance: kidney genetics in the 21st century

DP Gale, A Mallett, C Patel, TP Sneddon… - Nature Reviews …, 2020 - nature.com
The increasing availability of sequencing has accelerated the discovery of genetic causes of
kidney disease, with clear benefits for patients. However, insufficient or contradictory …

[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 …

[PDF][PDF] The growing power of Kidney Genetics INTRODUCTION

NVAM Knoers - American Journal of Medical Genetics. Part C …, 2022 - research.rug.nl
Over the past 15 years, the advent of massively parallel sequencing (MPS) techniques
(previously called next generation sequencing [NGS] techniques), has tremendously …

[HTML][HTML] Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference

A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk… - Kidney international, 2022 - Elsevier
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

Genetic studies in chronic kidney disease: interpretation and clinical applicability.

A Witasp, L Nordfors, JJ Carrero, K Luttropp… - Journal of …, 2012 - europepmc.org
The tools of modern molecular biology are evolving rapidly, resulting in vastly more efficient
approaches to illuminating human genetic variations and their effects on common …

[HTML][HTML] 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 …

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 …

[HTML][HTML] Genetics of kidney disease: the unexpected role of rare disorders

MD Elliott, HM Rasouly… - Annual Review of Medicine, 2023 - annualreviews.org
Hundreds of different genetic causes of chronic kidney disease are now recognized, and
while individually rare, taken together they are significant contributors to both adult and …