Sign inJoin waitlistJoin the waitlist

Elizabeth Bhoj

Assistant Professor of Pediatrics · University of Pennsylvania Health System

Credentials: · · ·

History

University of Pennsylvania Health System
Present
Children's Hospital of Philadelphia
Present

Medical Genetics and Genomics
Children's Hospital of Philadelphia
2010–2012
University of Pennsylvania, Philadelphia, PA
Univ of Texas Southwestern Med Sch at Dallas
2006–2010
The College Of New Jersey
1998–2002

Research

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor
Nature Medicine · 2019 · 170 citations
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
The American Journal of Human Genetics · 2017 · 155 citations
MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus
Proceedings of the National Academy of Sciences of the United States of America · 2008 · 127 citations

Elaine Zackai
49 papers
Hakon Hakonarson
39 papers
Rebecca Ahrens-Nicklas
15 papers · 2 as a resident
Tara Wenger
12 papers · 1 as a resident
Sarah Sheppard
11 papers
Kosuke Izumi
10 papers
Matthew Deardorff
9 papers
Donna McDonald-McGinn
8 papers
Alanna Strong
7 papers · 1 as a resident
Cara Skraban
7 papers
Tomoki Nomakuchi
7 papers · 2 as a resident
Adeline Vanderver
6 papers

Grants

UPenn Post Baccalaureate Research Education Program.
National Institute of General Medical Sciences · R25
PI · $425.4K · University of Pennsylvania
2005–2025
Mechanism of Disease in TBCK-Related Intellectual Disability Syndrome, a Novel Neurodegenerative Disorder with mTOR Dysfunction
National Institute of Neurological Disorders and Stroke · K08
Contact PI · $428.2K · Children's Hosp of Philadelphia
2019–2022