Marie T McDonald MD

Pediatrics•Durham, NC

Associate Professor, Pediatrics, Duke University School of Medicine

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2100 Erwin RdDurham, NC 27705
Phone+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
Completed
Phase 2
Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Start of enrollment: 2012 Oct 01
Completed
Phase 1, Phase 2

Publications & Presentations

PubMed

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
The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.
Nadia Falah, Surekha Pendyal, Cina Sasannejad, Allison Gibson, Yu Lin Lee
American Journal of Medical Genetics. Part A. 2024-09-01
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham
European Journal of Human Genetics. 2024-08-01

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 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