Marie T McDonald MD

Associate Professor, Pediatrics, Duke University School of Medicine

2100 Erwin RdDurham, NC 27705
Phone+1 919-684-8111

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Education & Training

University of Michigan Health - Sparrow/Michigan State UniversityFellowship, Pediatrics, 1991 - 1994
University of MichiganResidency, Pediatrics, 1991 - 1994
University of Dublin Trinity CollegeClass of 1985

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Certifications & Licensure

NC State Medical License 1998 - 2027
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
COMPLETED
PHASE2
Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients
COMPLETED
PHASE1, PHASE2

Publications & Presentations

PubMed

An Infant and Mother With Hypertelorism.
Benjamin T Cocanougher, Marie T McDonald
Pediatrics in Review. 2026-04-01
5 citations
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison
American Journal of Human Genetics. 2025-06-05
Variants in, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, Colin A Ellis, Alicia G Harrison
Medrxiv. 2025-02-12

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 Correlation
Rachel 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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Doximity / States / North Carolina / Durham / Marie McDonald, MD

Dr. Marie McDonald, Dr. Marie McDonald, MD, Dr. M McDonald, Dr. Marie T McDonald