Clinical genetics is increasingly recognized as an important area within nephrology care.
Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes …

Background The cause of kidney failure is unknown in approximately 10% of patients with
stage 5 chronic kidney disease (CKD). For those who first present to nephrology care with …

Background Cystic kidney disease (CyKD) is a predominantly familial disease in which gene
discovery has been led by family-based and candidate gene studies, an approach that is …

Intronic deletions that critically shorten donor-to-branchpoint (D-BP) distance of a precursor
mRNA impose biophysical space constraint on assembly of the U1/U2 spliceosomal …

Introduction Cystic kidney disease (CyKD) is frequently a familial disease, with~ 85% of
probands receiving a monogenic diagnosis. However, gene discovery has been led by …

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in
autosomal dominant polycystic kidney disease genes: a proof of concept Targeted RNAseq from …

Genetic diagnostics are being increasingly utilized in both academic and clinical nephrology
practice [1–4]. Confirming a genetic diagnosis in families with genetic kidney disease has …