Review of genetic testing in kidney disease patients: diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney …
LR Claus, R Snoek, NVAM Knoers… - American Journal of …, 2022 - Wiley Online Library
Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …
Long read sequencing on its way to the routine diagnostics of genetic diseases
The clinical application of technological progress in the identification of DNA alterations has
always led to improvements of diagnostic yields in genetic medicine. At chromosome side …
always led to improvements of diagnostic yields in genetic medicine. At chromosome side …
Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease
ALG8 protein-truncating variants (PTVs) have previously been described in patients with
polycystic liver disease and in some cases cystic kidney disease. Given a lack of well …
polycystic liver disease and in some cases cystic kidney disease. Given a lack of well …
[HTML][HTML] Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease
Purpose To investigate the prevalence of biallelic PKD1 and PKD2 variants underlying very
early onset (VEO) polycystic kidney disease (PKD) in a large international pediatric cohort …
early onset (VEO) polycystic kidney disease (PKD) in a large international pediatric cohort …
[HTML][HTML] The genetics of autosomal recessive polycystic kidney disease (ARPKD)
P Goggolidou, T Richards - Biochimica et Biophysica Acta (BBA)-Molecular …, 2022 - Elsevier
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of
cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying …
cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying …
[HTML][HTML] Emerging role of clinical genetics in CKD
Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have
a family history. Genetic testing is supportive in identifying and possibly confirming …
a family history. Genetic testing is supportive in identifying and possibly confirming …
Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management
Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …
[HTML][HTML] Genomics integration into nephrology practice
FP e Vairo, C Prochnow, JL Kemppainen, EC Lisi… - Kidney Medicine, 2021 - Elsevier
Rationale & Objective The etiology of kidney disease remains unknown in many individuals
with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics …
with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics …
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases
Polycystic Kidney Diseases (PKDs) consist of a genetically and phenotypically
heterogeneous group of inherited disorders characterized by numerous renal cysts. PKDs …
heterogeneous group of inherited disorders characterized by numerous renal cysts. PKDs …
A practical guide to genetic testing for kidney disorders of unknown etiology
Genetic testing is increasingly used in the workup and diagnosis of kidney disease and
kidney-related disorders of undetermined cause. Out-of-pocket costs for clinical genetic …
kidney-related disorders of undetermined cause. Out-of-pocket costs for clinical genetic …