Elaine Zackai
Director of Clinical Genetics, Children’s Hospital of Philadelphia · University of Pennsylvania Health System
Credentials: · · · · · ·
History
- 1968–1969
Albert Einstein School of Medicine
1964–1968
Research
Review · Nature Reviews Disease Primers · 2015 · 919 citations
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
Nature Genetics · 2002 · 668 citations
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
New England Journal of Medicine · 2011 · 641 citations
295 papers
49 papers · 2 as a resident
49 papers
45 papers
- KG
42 papers · 6 as a resident
40 papers · 2 as a fellow
39 papers
34 papers
Grants
- 2004–2006
General Clinical Research Center
National Center for Research Resources · M01
Project lead · $4.6K · Children's Hosp of Philadelphia
- 1997–2003
Velocardiofacial Syndrome-Molecular and Clinical Studies
National Institute on Deafness and Other Communication Disorders · P01
Project lead · $1.7M · Children's Hosp of Philadelphia