MarieTMcDonaldMD
Pediatrics • Durham, NCAssociate Professor, Pediatrics, Duke University School of Medicine
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Office
2100 Erwin Rd
Durham, NC 27705Phone+1 919-684-8111
Education & Training
University of MichiganResidency, Pediatrics, 1991 - 1994
University of Dublin Trinity CollegeClass of 1985
Certifications & Licensure
NC State Medical License 1998 - 2025
MI State Medical License 1994 - 1999- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Safety Study of Replagal® Therapy in Children With Fabry Disease Start of enrollment: 2011 May 12
- Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Start of enrollment: 2012 Oct 01
Publications & Presentations
PubMed
- 107 citationsDeficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric AciduriaBenjamin Nota, Eduard A. Struys, Ana Pop, Erwin E.W. Jansen, Matilde R. Fernandez Ojeda
American Journal of Human Genetics. 2013-04-04 - 102 citationsPolymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformationNathaniel H. Robin, Clare Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter M. Bingham
American Journal of Medical Genetics. Part A. 2006-11-15 - 4 citationsUnraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.Allyn McConkie-Rosell, Rebecca C Spillmann, Kelly Schoch, Jennifer A Sullivan, Nicole Walley
Journal of Genetic Counseling. 2023-10-01
Journal Articles
- Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype CorrelationRachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature
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