It is unknown how providing prospective living donors with information about APOL1,
including the benefits and drawbacks of testing, influences their desire for testing. In this …

Background. Recent studies identified underlying genetic causes in a proportion of patients
with various forms of kidney disease. In particular, genetic testing reclassified some focal …

In 2019, Groopman et al set out to assess the diagnostic utility of exome sequencing in a
diverse, all-cause, chronic kidney disease cohort of over 3000 individuals and demonstrated …

Introduction Previous studies have suggested that genetic kidney diseases in adults are
often overlooked, representing up to 10% of all cases of chronic kidney disease (CKD). We …

Introduction Genetic kidney diseases are underdiagnosed; namely, from 7% to 40% of
patients suffering from chronic kidney disease (CKD) can carry a pathogenic variant …

The study of kidney diseases has been described since the Hippocratic era, but nephrology
as a medical specialty dates from the mid-20th century. Despite all interesting aspects of …

Monogenic kidney diseases are involved in up to 15% of end-stage kidney diseases in
adults, and in 70% of pediatric patients. When these disorders lead to kidney failure, kidney …

Monogenic causes of chronic kidney disease (CKD) are more prevalent in adults than
previously thought, as causative gene variants are found in almost 10% of unselected …

Clinical variant classification of pathogenic versus benign genetic variants remains a
challenge in clinical genetics. Recently, the proposition of genomic foundation models has …

Chronic kidney disease (CKD) represents a global public health crisis, but awareness by
patients and providers is poor. Defined as persistent abnormalities in kidney structure or …