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Marie Theresa McDonald, MD

Professor of Pediatrics
Campus mail: 2082 GSRB1, Box 103857, Durham, NC 27710
Phone: (919) 681-1982
Email address: mcdon035@mc.duke.edu

My current research interests are in the field of Clinical Genetics, Dysmorphology, and Fabry disease.

Education and Training

  • M.D., University Dublin Trinity College (Ireland), 1988

Publications

Stiles, Ashlee R., Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie McDonald, Deeksha S. Bali, and Sarah P. Young. “A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.” Mol Genet Metab 130, no. 3 (July 2020): 209–14. https://doi.org/10.1016/j.ymgme.2020.04.006.

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Schoch, Kelly, Queenie K-G Tan, Nicholas Stong, Kristen L. Deak, Allyn McConkie-Rosell, Marie T. McDonald, Marie T. Undiagnosed Diseases Network, David B. Goldstein, Yong-Hui Jiang, and Vandana Shashi. “Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.” Genet Med, May 5, 2020. https://doi.org/10.1038/s41436-020-0781-x.

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Mizumoto, Shuji, Andreas R. Janecke, Azita Sadeghpour, Gundula Povysil, Marie T. McDonald, Sheila Unger, Susanne Greber-Platzer, et al. “CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.” Hum Mutat 41, no. 3 (March 2020): 655–67. https://doi.org/10.1002/humu.23952.

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Hansen, Adam W., Mullai Murugan, He Li, Michael M. Khayat, Liwen Wang, Jill Rosenfeld, B Kim Andrews, et al. “A Genocentric Approach to Discovery of Mendelian Disorders.” Am J Hum Genet 105, no. 5 (November 7, 2019): 974–86. https://doi.org/10.1016/j.ajhg.2019.09.027.

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Burkardt, Deepika D’Cunha, Anna Zachariou, Chey Loveday, Clare L. Allen, David J. Amor, Anna Ardissone, Siddharth Banka, et al. “HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.” Am J Med Genet A 179, no. 10 (October 2019): 2049–55. https://doi.org/10.1002/ajmg.a.61321.

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Abdelnour, Elie, William Gallentine, Marie McDonald, Monisha Sachdev, Yong-Hui Jiang, and Mohamad A. Mikati. “Corrigendum to "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature" [Seizure 55 (February) (2018) 1-3].” Seizure 69 (July 2019): 305. https://doi.org/10.1016/j.seizure.2019.04.014.

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Koczkowska, Magdalena, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, et al. “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.” Genet Med 21, no. 4 (April 2019): 867–76. https://doi.org/10.1038/s41436-018-0269-0.

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Koczkowska, Magdalena, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, et al. “Correction: 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.” Genet Med 21, no. 3 (March 2019): 764–65. https://doi.org/10.1038/s41436-018-0326-8.

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Ganapathi, Mythily, Leah R. Padgett, Kentaro Yamada, Orrin Devinsky, Rebecca Willaert, Richard Person, Ping-Yee Billie Au, et al. “Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.” Am J Hum Genet 104, no. 2 (February 7, 2019): 287–98. https://doi.org/10.1016/j.ajhg.2018.12.017.

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Dowsett, Leah, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, et al. “Cornelia de Lange syndrome in diverse populations.” Am J Med Genet A 179, no. 2 (February 2019): 150–58. https://doi.org/10.1002/ajmg.a.61033.

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