Publications by authors named "Chew-Yin Jasmine Goh"
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Synopsis of recent research by authors named "Chew-Yin Jasmine Goh"
Chew-Yin Jasmine Goh's research primarily focuses on genetic disorders, particularly neurodevelopmental disorders (NDDs) related to specific gene variants, highlighting the importance of understanding the genotype-phenotype relationship for better diagnosis and management. !*
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Her recent studies include the identification of new clinical features associated with CNOT3-related NDDs, as well as reporting on DEGS1-related leukodystrophy, which underscores the heterogeneity within leukodystrophies and the need for precise genetic diagnosis. !*
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Goh's work emphasizes the significance of employing next-generation sequencing in clinical settings to improve diagnostic yields in patients with genetic disorders, especially within the Southeast Asian population, revealing numerous pathogenic variants contributing to a better understanding of congenital disorders. !*
