Genomics in the renal clinic-translating nephrogenetics for clinical practice

A Mallett, C Corney, H McCarthy, SI Alexander… - Human Genomics, 2015 - Springer
Abstract Genetic Renal Disease (GRD) presents to mainstream clinicians as a mixture of
kidney-specific as well as multi-organ entities, many with highly variable phenotype …

Advances in renal genetic diagnosis

C Bergmann - Cell and Tissue Research, 2017 - Springer
Most genetic disorders are clinically and genetically heterogeneous. Next-generation
sequencing (NGS) has revolutionized the field and is providing rapidly growing insights into …

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 …

Establishing a nephrology genetic clinic

FP e Vairo, JL Kemppainen, JC Lieske… - Kidney …, 2021 - kidney-international.org
Nephrology practices currently are amidst a genetics/genomics revolution where clinical
molecular screening has transitioned from analysis of single genes (Sanger sequencing) to …

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 …

Genome-wide study updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN)

CE Fishman, M Mohebnasab, J Van Setten… - Frontiers in …, 2019 - frontiersin.org
The prevalence of end-stage renal disease (ESRD) and the number of kidney transplants
performed continues to rise every year, straining the procurement of deceased and living …

[HTML][HTML] Genetic evaluation of living kidney donor candidates: a review and recommendations for best practices

CP Thomas, R Daloul, KL Lentine, R Gohh… - American Journal of …, 2023 - Elsevier
The growing accessibility and falling costs of genetic sequencing techniques has expanded
the utilization of genetic testing in clinical practice. For living kidney donation, genetic …

Towards precision nephrology: the opportunities and challenges of genomic medicine

JG Nestor, EE Groopman, AG Gharavi - Journal of nephrology, 2018 - Springer
The expansion of genomic medicine is furthering our understanding of many human
diseases. This is well illustrated in the field of nephrology, through the characterization …

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 …

The genetics of kidney transplantation

N Pallet, E Thervet - Human genetics, 2012 - Springer
Over the last decade, the search for gene variants with the potential to influence transplant
outcomes or predispose individuals to host–recipient-related phenotypes has generated a …