Publications by authors named "Chew Yin Jasmine Goh"
Page 1 of 1
Synopsis of recent research by authors named "Chew Yin Jasmine Goh"
- Chew Yin Jasmine Goh's recent research focuses on the genetic underpinnings and clinical features of neurodevelopmental disorders (NDDs) and congenital disorders, emphasizing the relationship between specific gene variants and their associated phenotypes.
- Notable findings include the identification of progressive aortic dilatation in a patient with CNOT3-related NDD, suggesting an expanded phenotype that could improve diagnostic accuracy and patient management strategies.
- The research also highlights the utility of genomic sequencing in diagnosing diverse leukodystrophies and other genetic disorders, with significant results demonstrating pathogenic variants in several patients, thus contributing to a better understanding of genetic diseases within the Southeast Asian population.
