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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

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.

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Liu, Ning, Kelly Schoch, Xi Luo, Loren D. M. Pena, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, et al. “Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.” Hum Mol Genet 27, no. 14 (July 15, 2018): 2454–65. https://doi.org/10.1093/hmg/ddy146.

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Guissart, Claire, Xenia Latypova, Paul Rollier, Tahir N. Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, et al. “Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.” Am J Hum Genet 102, no. 5 (May 3, 2018): 744–59. https://doi.org/10.1016/j.ajhg.2018.02.021.

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Abdelnour, Elie, William Gallentine, Marie McDonald, Monisha Sachdev, Yong-Hui Jiang, and Mohamad A. Mikati. “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. https://doi.org/10.1016/j.seizure.2017.11.017.

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Ghusayni, Ryan, Monisha Sachdev, William Gallentine, Mohamad A. Mikati, and Marie T. McDonald. “Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.” Epileptic Disord 20, no. 1 (February 1, 2018): 30–34. https://doi.org/10.1684/epd.2018.0954.

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Lee, Chae Syng, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V Reid Sutton, Marcello Niceta, et al. “Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".” Am J Hum Genet 101, no. 5 (November 2, 2017): 815–23. https://doi.org/10.1016/j.ajhg.2017.09.019.

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Labowsky, Mary T., Scott D. Walter, Marie T. McDonald, and Prithvi Mruthyunjaya. “Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.” J Aapos 21, no. 5 (October 2017): 426-429.e1. https://doi.org/10.1016/j.jaapos.2017.06.012.

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Stern, D., M. T. Cho, R. Chikarmane, R. Willaert, K. Retterer, F. Kendall, M. Deardorff, et al. “Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.” Clin Genet 92, no. 2 (August 2017): 221–23. https://doi.org/10.1111/cge.12956.

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Tan, Queenie K-G, Diana M. Cardona, Catherine W. Rehder, and Marie T. McDonald. “Identification of EPCAM mutation: clinical use of microarray.” Clin Case Rep 5, no. 6 (June 2017): 980–85. https://doi.org/10.1002/ccr3.914.

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Louie, Raymond J., Queenie K-G Tan, Jennifer B. Gilner, R Curtis Rogers, Noelle Younge, Stephanie B. Wechsler, Marie T. McDonald, et al. “Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.” Am J Med Genet A 173, no. 5 (May 2017): 1219–25. https://doi.org/10.1002/ajmg.a.38144.

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