Skip to main content

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

Coppola, Tiziana, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, and Gabriela Maradiaga Panayotti. “A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.” Bmc Pediatr 19, no. 1 (July 20, 2019): 245. https://doi.org/10.1186/s12887-019-1617-1.

Full Text

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.

Full Text

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.

Full Text

Helbig, Katherine L., Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.” Am J Hum Genet 104, no. 3 (March 7, 2019): 562. https://doi.org/10.1016/j.ajhg.2019.02.015.

Full Text

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.

Full Text

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.

Full Text

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.

Full Text

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.

Full Text

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.

Full Text

Tan, Queenie K-G, Heidi Cope, Rebecca C. Spillmann, Nicholas Stong, Yong-Hui Jiang, Marie T. McDonald, Jennifer A. Rothman, et al. “Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.” Cold Spring Harb Mol Case Stud 4, no. 5 (October 2018). https://doi.org/10.1101/mcs.a003046.

Full Text

Pages