Publications by authors named "Shweta S Joshi"
Life Sci Alliance
May 2023
Article Synopsis
- A significant portion of intellectual disability cases have unknown genetic causes, but de novo mutations (DNMs) in genes account for up to 40% of them.
- Researchers sequenced genomes from 21 individuals with intellectual disabilities and their parents, discovering that regulatory DNMs are more abundant in fetal brain enhancers compared to adult brain enhancers.
- The study revealed that these regulatory mutations are linked to genes important for brain development, indicating that they significantly contribute to the causes of intellectual disability.
