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Biology and Biochemistry

D-Index
50
Citations
10430
World Ranking
17544
National Ranking
7200

Overview

Vandana Shashi is affiliated with Duke University in the United States. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. The subfields of study they focus on include Genetics, Molecular Biology, Cell Biology, Cardiology and Cardiovascular Medicine, and Pulmonary and Respiratory Medicine.

The main topics covered in their work are genomics and rare diseases, genetics and neurodevelopmental disorders, genomic variations and chromosomal abnormalities, congenital heart defects research, coronary artery anomalies, RNA research and splicing, and cancer genomics and diagnostics.

Shashi's recent papers include the following:

  • Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome, 2020, Nature Medicine
  • Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG), 2021, Genetics in Medicine
  • The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction, 2020, Genetics in Medicine
  • Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations, 2021, Genetics in Medicine
  • An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids, 2020, Genetics in Medicine

Frequent co-authors collaborating with Vandana Shashi include:

  • Kelly Schoch
  • Jennifer A. Sullivan
  • Rebecca C. Spillmann
  • Heidi Cope
  • Allyn McConkie-Rosell

Shashi's publications have appeared predominantly in the following venues:

  • Genetics in Medicine
  • UNC Libraries
  • The American Journal of Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • American Journal of Medical Genetics Part A

Best Publications

  • A copy number variation morbidity map of developmental delay

    Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

  • Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

    Maude Schneider;Martin Debbané;Anne S. Bassett;Eva W.C. Chow

  • Clinical application of exome sequencing in undiagnosed genetic conditions

    Anna C Need;Vandana Shashi;Yuki Hitomi;Kelly Schoch

  • Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

    Xiaolin Zhu;Slavé Petrovski;Slavé Petrovski;Pingxing Xie;Pingxing Xie;Elizabeth K. Ruzzo

  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

    Kimberly Splinter;David R. Adams;Carlos A. Bacino;Hugo J. Bellen

  • 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;Kelly Schoch

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

    Gregory M. Enns;Vandana Shashi;Matthew Bainbridge;Michael J. Gambello

  • Quinidine in the treatment of KCNT1-positive epilepsies.

    Mohamad A Mikati;Yong-hui Jiang;Michael Carboni;Vandana Shashi

  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

    Julia Wang;Rami Al-Ouran;Yanhui Hu;Seon-Young Kim

  • The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

    Rachel B. Ramoni;Rachel B. Ramoni;John J. Mulvihill;David R. Adams;Patrick Allard

  • Spectrum of small mutations in the dystrophin coding region

    Vandana Shashi;Pamela Clark;Alan D. Rogol;William G. Wilson

  • Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study.

    Allen R. Chauvenet;Vandana Shashi;Clifford Selsky;Elaine R Morgan

  • De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

    Jessica X. Chong;Margaret J. McMillin;Kathryn M. Shively;Anita E. Beck

  • Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.

    Robert W. Davies;Robert W. Davies;Ania M. Fiksinski;Ania M. Fiksinski;Elemi J. Breetvelt;Nigel M. Williams

  • Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome.

    Kathryn Eve Lewandowski;Vandana Shashi;Peggy M. Berry;Thomas Richard Kwapil

  • Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

    Isabelle Cleynen;Worrawat Engchuan;Matthew S. Hestand;Matthew S. Hestand;Matthew S. Hestand;Tracy Heung;Tracy Heung

  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

    Hsiao-Tuan Chao;Hsiao-Tuan Chao;Mariska Davids;Elizabeth Burke;John G. Pappas

  • Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

    Allyn Mc Conkie Rosell;Loren D.M. Pena;Kelly Schoch;Rebecca Spillmann

  • Corrigendum: A copy number variation morbidity map of developmental delay

    Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

Frequent Co-Authors

Stephen R. Hooper
Stephen R. Hooper University of North Carolina at Chapel Hill
David Goldstein
David Goldstein University of New South Wales
Yong-hui Jiang
Yong-hui Jiang Yale School of Medicine
Slavé Petrovski
Slavé Petrovski AstraZeneca (United Kingdom)
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Michael F. Wangler
Michael F. Wangler Baylor College of Medicine
Jonathan A. Bernstein
Jonathan A. Bernstein University of Cincinnati Medical Center
Matcheri S. Keshavan
Matcheri S. Keshavan Beth Israel Deaconess Medical Center
Jennifer E. Posey
Jennifer E. Posey Baylor College of Medicine
Daryl A. Scott
Daryl A. Scott Baylor College of Medicine

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