Marie McDonald
Program Director, Medical Genetics and Genomics Residency Training Program · Duke University Hospital
Credentials: · · · ·
History
PresentMedical Genetics and Genomics Residency · Duke University Hospital
- Present
Research
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease
Neurology · 2007 · 620 citations
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Nature Genetics · 2010 · 478 citations
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
Annals of Internal Medicine · 2007 · 450 citations
13 papers
8 papers
8 papers
7 papers
7 papers
7 papers
6 papers · 1 as a resident
- JG
6 papers
Grants
- 2004–2006
General Clinical Research Center
National Center for Research Resources · M01
Project lead · $57.7K · Duke University
- 1996–1999
Molecular Genetics of Incontinentia Pigmenti Type i
National Institute of Child Health and Human Development · K08
Contact PI · $160.2K · University of Michigan at Ann Arbor
- 1995
Molecular Genetics of Incontinentia Pigmenti Type 1
National Institute of Neurological Disorders and Stroke · F32
Contact PI · $65.2K · University of Michigan at Ann Arbor