Vandana Shashi

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

Medicine, Genetics, Cognitive Development +6

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C. Need, Vandana Shashi, Yuki Hitomi et al. · Journal of Medical Genetics · 2012 · 433 citations · Full text

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Kimberly Splinter, David R. Adams, Carlos A. Bacino et al. · New England Journal of Medicine · 2018 · 359 citations · Full text

Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome

Jacob Vorstman, Elemi Breetvelt, Sasja N. Duijff et al. · JAMA Psychiatry · 2015 · 293 citations · Full text

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Vandana Shashi, Allyn McConkie‐Rosell, Bruce Rosell et al. · Genetics in Medicine · 2013 · 288 citations

Bioinformatics, Medicine, Genetics +9