Publications by authors named "Juliana H Vedovato-Dos-Santos"
Am J Hum Genet
February 2021
Article Synopsis
- Large-scale statistical analyses identify disease-gene relationships but fail to accurately represent how specific genetic variations affect observable traits and disease mechanisms.
- The study focuses on the SATB1 gene, showing that different types of variants lead to similar yet distinct neurodevelopmental disorders, revealing notable genotype-phenotype relationships.
- Variants causing strong chromatin binding lead to severe disorders, while those causing mild effects highlight the need for detailed studies on specific mutations to better understand the complexities of genetic diseases.
