American Journal of Medical Genetics

June 22, 2023

Mosaicism and genetic disease

Genetic mosaicism — when the body’s cells do not all have the same genetic makeup — could generate variants previously thought to be spontaneous in genetic disease, and detecting parental mosaicism could clarify recurrence risk for future children.

By Leigh MacMillan

February 13, 2018

Cognition in rare hormonal disorder

Vanderbilt investigators have conducted the first systematic evaluation of cognitive function in children with a rare genetic disorder.