Heather Mefford
Director, Pediatric Translational Neuroscience Clinical Research Network, Powered by St. Jude · St Jude Children's Research Hospital
Credentials: · · · ·
History
PresentPediatric Translational Neuroscience Clinical Research Network · St Jude Children's Research Hospital
2003–2006
Research
De novo mutations in epileptic encephalopathies
Nature · 2013 · 1,242 citations
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Nature Genetics · 2010 · 1,018 citations
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
Science · 2012 · 997 citations
31 papers · 25 as a resident
17 papers
8 papers
7 papers · 2 as a resident
7 papers
- MH
7 papers
- MZ
7 papers · 2 as a fellow
7 papers
Grants
- 2021–2028
ClinGen Expert Curation Panel for the Epilepsies
National Institute of Neurological Disorders and Stroke · U24
Contact PI · $2M · Children's Hosp of Philadelphia
- 2025–2027
Investigating the Role of RHOBTB2 in DEE to Develop Novel Therapies
National Institute of Neurological Disorders and Stroke · R21
Contact PI · $508.8K · St. Jude Children's Research Hospital
- 2010–2020
A Genomic Approach to Epilepsy
National Institute of Neurological Disorders and Stroke · R01
Contact PI · $4.9M · University of Washington
- 2011–2018
3 of 7 Epi4K: Sequencing, Biostatistics & Bioinformatics Core
National Institute of Neurological Disorders and Stroke · U01
PI · $13.3M · Columbia University Health Sciences