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Vandana Shashi
Medical Genetics
Duke University
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About Vandana Shashi at Duke University (Duke)
Vandana Shashi is a medical geneticist at Duke University whose research focuses on the genomics of rare diseases and neurodevelopmental disorders.
Representative publications include "Exome/Genome Sequencing in Undiagnosed Syndromes", and "Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease", which reflect their ongoing engagement with the field.
Research Areas
Congenital heart defectsRare diseasesNeurodevelopmental disordersGenomicsClinical geneticsGenotype-phenotype correlationUndiagnosed diseasesRepeat expansion disorders
Top Publications
- 1Exome/Genome Sequencing in Undiagnosed Syndromes2023· 48 citations
- 2
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