VandanaShashiMD
Medical Genetics • Durham, NCClinical Biochemical Genetics, Clinical Genetics
Associate Professor, Pediatrics, Duke University School of Medicine
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Office
905 S Lasalle St
Bldg GSRB1
Durham, NC 27710Phone+1 919-684-2036Fax+1 919-668-0414- Is this information wrong?
Education & Training
University of Virginia Medical CenterFellowship, Clinical Biochemical Genetics, 1992 - 1995
Wake Forest University School of MedicineResidency, Pediatrics, 1990 - 1992
Kasturba Medical College ManipalClass of 1982
Certifications & Licensure
NC State Medical License 1997 - 2024
SC State Medical License 1994 - 1997- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Cognitive Remediation in 22q11DS Start of enrollment: 2010 Oct 01
- Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene Start of enrollment: 2018 Nov 27
Roles: Contact
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network Start of enrollment: 2015 Sep 16
Roles: Contact
Publications & Presentations
PubMed
- The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.Bethany Stafford-Smith, Jennifer A Sullivan, Marion McAlister, Nicole Walley, Allyn McConkie-Rosell, Vandana Shashi> ;Journal of Genetic Counseling. 2024 Apr 1
- De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.Yuchen Xu, Rui Song, Riley E Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L Park, James P Allen, Kelsey A Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington ...> ;Cellular and Molecular Life Sciences. 2024 Mar 28
- A second hotspot for pathogenic exon-skipping variants in CDC45.Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria ...> ;European Journal of Human Genetics. 2024 Mar 11
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Journal Articles
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseCarlos 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 NegativeVandana Shashi, MD, Nature
Press Mentions
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- Join now to see all
Grant Support
- 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
Hospital Affiliations
Duke University HospitalDurham, North Carolina
External Links
- Duke Undiagnosed Diseases Clinical Sitehttp://www.dumcudn.org/
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