Publications by authors named "J Heather Vedovato-Dos-Santos"
Craniosynostosis (CRS), the premature fusion of sutures between the skull bones, is characterised by a long "tail" of rare genetic diagnoses. This means that pathogenic variants in many genes are responsible for a minority of cases, and identifying these disease genes and delineating the associated phenotype is extremely important for patient diagnosis and for genetic counselling of families. One such gene is BCL11B.
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- 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.