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Office3000 Erwin Rd
Durham, NC 27705Phone(919) 684-2036
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Education & Training
- University of Michigan Hospitals and Health CentersResidency, Pediatrics, 1991 - 1994
- University of Dublin Trinity CollegeClass of 1985
Certifications & Licensure
- NC State Medical License 1998 - 2021
- 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
- A Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Weeks to Adult Fabry Patients Start of enrollment: 2012 Oct 01Tuffaha, A.M.,Visootsak, J.J.,Schiffmann, R.,McDonald, M.,Maegawa, G.H.
- An Open-Label Clinical Trial of Replagal® Enzyme Replacement Therapy in Children With Fabry Disease Who Are Naive to Enzyme Replacement Therapy Start of enrollment: 2011 May 01McDonald, M.,Shankar, S.P.,Longo, N.
Publications & Presentations
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A. Cousin, Blake A Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald James Edwards, Simone Afr...> ;Nature Genetics. 2021 Jul 1
- Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie T. McDonald, Michael J. Friez, Allyn McConkie-Rosell, Richard Steet> ;Cold Spring Harbor molecular case studies. 2021 Jun 11
- De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wend...> ;Genetics in Medicine. 2021 Apr 30
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- 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
- Duke University HospitalDurham, North Carolina
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