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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
diseases. This is well illustrated in the field of nephrology, through the characterization …
Genomic medicine for kidney disease
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
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 …
outcomes or predispose individuals to host–recipient-related phenotypes has generated a …