Rationale & Objective: The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to improve our ability to integrate genomic and clinical data to identify the etiology of unexplained CKD. Study Design: Retrospective study. Setting & Participants: An essential component of our program is the Nephrology Genomics Board which consists of nephrologists, geneticists, pathologists, translational omics scientists, and trainees who interpret the patient’s clinical and genetic data. Since September 2016, the Board has reviewed 163 cases (15 cystic, 100 glomerular, 6 congenital anomalies of kidney and urinary tract (CAKUT), 20 stones, 15 tubuloint...
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributi...
This study examines the prevalence and distribution of genetic kidney diseases in a cohort of chroni...
Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagn...
Rationale & Objective: Hereditary nephropathies are clinically and genetically heterogeneous dis...
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as gene...
Chapter 1 provides an introduction to the topic and an overview of the currently known genetic cause...
Key differences exist between clinical and research genomics. As genomic testing is adopted in nephr...
Background: Genetic renal diseases (GRD) are a heterogeneous and incompletely understood group of di...
(1) Background: Genomic testing is increasingly utilized as a clinical tool; however, its integratio...
INTRODUCTION: Chronic kidney disease (CKD) can be caused by a variety of systemic or primary renal d...
Advances in next-generation sequencing (NGS) techniques, including whole exome sequencing, have faci...
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as gene...
The advent of next-generation sequencing technologies has enabled genetic nephrology research to mov...
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributi...
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributi...
This study examines the prevalence and distribution of genetic kidney diseases in a cohort of chroni...
Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagn...
Rationale & Objective: Hereditary nephropathies are clinically and genetically heterogeneous dis...
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as gene...
Chapter 1 provides an introduction to the topic and an overview of the currently known genetic cause...
Key differences exist between clinical and research genomics. As genomic testing is adopted in nephr...
Background: Genetic renal diseases (GRD) are a heterogeneous and incompletely understood group of di...
(1) Background: Genomic testing is increasingly utilized as a clinical tool; however, its integratio...
INTRODUCTION: Chronic kidney disease (CKD) can be caused by a variety of systemic or primary renal d...
Advances in next-generation sequencing (NGS) techniques, including whole exome sequencing, have faci...
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as gene...
The advent of next-generation sequencing technologies has enabled genetic nephrology research to mov...
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributi...
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributi...
This study examines the prevalence and distribution of genetic kidney diseases in a cohort of chroni...
Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagn...