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Pamela McDonnell

Neurology Medical Director, CHOP Global Medicine · Children's Hospital of Philadelphia

Credentials: · · · ·

History

CHOP Global Medicine · Children's Hospital of Philadelphia
Present
University of Pennsylvania Health System
Present
Children's Hospital of Philadelphia
Present

Drexel University College of Medicine/Hahnemann University
2015–2016
Child Neurology
New York Presbyterian Hospital
2012–2015
Columbia University Medical Center
2014–2015
Pediatrics
St Christopher's Hospital for Children
2010–2012
Physiology and Biophysics - Georgetown University, Washington, DC
Drexel University College of Medicine
2006–2010
Neurobiological Studies - University of Florida, Gainesville, FL
2001–2005

Research

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
The American Journal of Human Genetics · 2022 · 31 citations
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics · 2024 · 14 citations
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
Frontiers in Neuroscience · 2023 · 12 citations

Ingo Helbig
6 papers
Mark Fitzgerald
3 papers
Nicholas Abend
3 papers
Sara Molisani
3 papers · 1 as a resident
Stacey Cohen
3 papers
Benjamin Kennedy
2 papers
Bianca Russell
2 papers
Brendan Lee
2 papers
Carlos Bacino
2 papers
Colin Ellis
2 papers
Dihong Zhou
2 papers
GA
George Anadiotis
2 papers