Vandana Shashi - Concepedia

Author

Vandana Shashi

Also Known As

Elaine Seto, Timothy Schedl, V. Shashi, Vandana Shashi, Willa Thorson

Publications

1.1K

Citations

H-Index

Concepts

All Affiliations

Vandana Shashi is an author at Duke University specializing in medicine, genetics, and molecular genetics.

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	347
2	Molecular Genetics	2	2	347
3	Cell Biology	1	1	236
4	Brain Development	1	1	111
5	Cellular Biochemistry	1	1	236

Vandana Shashi

Publications

952

Citations

H-Index

Page 1

	Year	Citations
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Genetics in Medicine	2015	337
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Genetics in Medicine GeneticsEndocytic PathwayProtein DegradationInherited DisorderMolecular Genetics	2014	236
Quinidine in the treatment of<scp>KCNT</scp>1‐positive epilepsies Mohamad A. Mikati, Yong‐hui Jiang, Michael P. Carboni, Annals of Neurology	2015	220
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, The American Journal of Human Genetics Developmental BiologyMendelian DisorderBrain DevelopmentGenetic DisorderGenetics	2016	111
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition Slavé Petrovski, Vandana Shashi, Steven Petrou, Molecular Case Studies	2015	27
The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome Aravindhan Veerapandiyan, David Blalock, Srija Ghosh, The Laryngoscope	2011	21

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