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Guy Helman

Pediatric Critical Care Medicine Fellowship · Children's Hospital of Philadelphia

Credentials: · · ·

History

Pediatric Critical Care Medicine
Children's Hospital of Philadelphia
2025–Present
Pediatrics
Children's Hospital of Philadelphia
2022–2025
UNIV OF QUEENSLAND, FAC OF MED, HERSTON, QUEENSLAND, AUSTRALIA
2018–2022

Research

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics Part A · 2015 · 515 citations
Case definition and classification of leukodystrophies and leukoencephalopathies
Review · Molecular Genetics and Metabolism · 2015 · 216 citations
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
Review · Molecular Genetics and Metabolism · 2015 · 154 citations

Adeline Vanderver
43 papers
RS
Raphael Schiffmann
10 papers
Matthew Whitehead
8 papers
Joshua Bonkowsky
7 papers
Miriam Bloom
7 papers
Keith Van Haren
6 papers
Laura Adang
5 papers · 2 as a fellow
Sarah Evans
5 papers
Andrea Gropman
4 papers
MP
Marc Patterson
4 papers
SK
Stephanie Keller
4 papers
AC
Abigail Collins
3 papers