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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, 1988

Publications

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, November 9, 2019. 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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Khan, Tahir N., Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, et al. “Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.” Am J Hum Genet 104, no. 1 (January 3, 2019): 94–111. https://doi.org/10.1016/j.ajhg.2018.11.017.

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Slone, Jesse, Yanyan Peng, Adam Chamberlin, Belinda Harris, Julie Kaylor, Marie T. McDonald, Monica Lemmon, et al. “Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.” J Hum Genet 63, no. 12 (December 2018): 1211–22. https://doi.org/10.1038/s10038-018-0515-y.

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