VandanaShashiMD

Clinical Biochemical Genetics, Clinical Genetics

Associate Professor, Pediatrics, Duke University School of Medicine

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Office
2100 Erwin Rd
Durham, NC 27705
Phone+1 919-684-8111

Fax+1 919-668-0414

University of Virginia Medical CenterFellowship, Clinical Biochemical Genetics, 1992 - 1995
Wake Forest University Baptist Medical CenterResidency, Pediatrics, 1990 - 1992
Kasturba Medical College ManipalClass of 1982

PubMed

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Lucy McNamee, Kelly Schoch, Alden Huang, Hane Lee, Lee-Kai Wang
American Journal of Medical Genetics. Part A. 2024-11-01
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly
American Journal of Human Genetics. 2024-07-11
1 citations
A second hotspot for pathogenic exon-skipping variants in CDC45.
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Cao, Sabine Uhrig
European Journal of Human Genetics. 2024-07-01

Journal Articles

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Carlos A Bacino, Vandana Shashi, Euan A Ashley, Cynthia J Tifft, William A Gahl, Brendan H Lee, John J Mulvihill, Rizwan Hamid, Matthew T Wheeler, Jonathan A Bernstein..., The New England Journal of Medicine
A Comprehensive Iterative Approach Is Highly Effective in Diagnosing Individuals Who Are Exome Negative
Vandana Shashi, MD, Nature

You’ve Heard About Genome Sequencing — but What’s Exome Sequencing?May 10th, 2021
De Novo Variants in SNAP25 Cause an Early-Onset Developmental and Epileptic EncephalopathyDecember 10th, 2020
The Broad Phenotypic Spectrum of PPP2R1A-Related Neurodevelopmental Disorders Correlates with the Degree of Biochemical DysfunctionOctober 27th, 2020
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Development Of A Novel Cognitive Remediation Program For 22Q11 Deletion SyndromeNational Institute Of Mental Health2011
Risk Factors For Psychosis In Chromosome 22Q11 Deletion SyndromeNational Institute Of Mental Health2008–2011
Neural Correlates Of Working Memory In Children With 22q11.2 Deletion SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development2010
Risk Factors For Psychosis In Chromosome 22Q11 Deletion SyndromeNational Institute Of Mental Health2007–2008
Schizophrenia Predisposition In 22Q11 Deletion SyndromeNational Institute Of Mental Health2004–2005