Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …

Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset
multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased …

Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …

Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …

Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …

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 …

Autosomal dominant polycystic kidney disease (ADPKD), primarily due to PKD1 or PKD2
mutations, causes progressive kidney cyst development and kidney failure. There is …

Hereditary erythrocytes disorders include a large group of conditions with heterogeneous
molecular bases and phenotypes. We analyzed here a case series of 155 consecutive …

The use of next-generation sequencing technologies such as exome and genome
sequencing in research and clinical care has transformed our understanding of the …

Significant progress has been made in understanding the genetic basis of autosomal
dominant polycystic kidney disease (ADPKD), quantifying disease manifestations in …