Sign inJoin waitlistJoin the waitlist

Elizabeth McCormick

Co-Director, Biochemical Genetics · University of Pennsylvania Health System

Credentials: ·

History

Biochemical Genetics · University of Pennsylvania Health System
Present

Research

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
The American Journal of Human Genetics · 2016 · 148 citations
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
Human Mutation · 2020 · First of 21 authors · 143 citations
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
Human Mutation · 2019 · 103 citations

MF
Marni Falk
53 papers
Zarazuela Zolkipli-Cunningham
20 papers
Amy Goldstein
14 papers
Hakon Hakonarson
10 papers
Rebecca Ganetzky
10 papers
Shana McCormack
8 papers
Arastoo Vossough
4 papers
Cesar Alves
4 papers
Elaine Zackai
4 papers
GZ
Giulio Zuccoli
4 papers
Juan Saavedra
4 papers · 4 as a resident
ES
Edward Shadiack
3 papers

Clinical trials

Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
Principal investigator · Completed · Phase 1, Phase 2
Children's Hospital of Philadelphia
2023–2024