Mechanisms and Consequences in Neurodevelopmental Disorders
Rare copy number variants (CNVs) have been associated with many neurodevelopmental disorders, including autism, epilepsy and developmental and intellectual disabilities. The Mechanisms and Consequences in Neurodevelopmental Disorders project studies the genomic locations of these CNVs, identifies the molecular mechanisms of their formation and describes the physical characteristics, or phenotypes, found in them to better understand the conditions and search for the responsible genes.
- David H Ledbetter, PhD FACMG
- Christa Lese Martin PhD, FACMG