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

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.

Full Text

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 22, no. 7 (July 2020): 1269–75. https://doi.org/10.1038/s41436-020-0781-x.

Full Text

Castilla-Vallmanya, Laura, Kaja K. Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Sandra Yang, Margot R. F. Reijnders, et al. “Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.” Genet Med 22, no. 7 (July 2020): 1215–26. https://doi.org/10.1038/s41436-020-0792-7.

Full Text

Tolchin, Dara, Jessica P. Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A. Martinez-Agosto, Abdul Haseeb, et al. “De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.” Am J Hum Genet 106, no. 6 (June 4, 2020): 830–45. https://doi.org/10.1016/j.ajhg.2020.04.015.

Full Text

Sullivan, Jennifer A., Nicholas Stong, Evan H. Baugh, Marie T. McDonald, Akihito Takeuchi, and Vandana Shashi. “A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.” Am J Med Genet A, May 22, 2020. https://doi.org/10.1002/ajmg.a.61630.

Full Text

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.

Full Text

Tran, Linh, Jason Richards, Marie McDonald, Allyn McConkie-Rosell, Nicholas Stong, Joan Jasien, Vandana Shashi, and Mohamad A. Mikati. “Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.” Epileptic Disord 22, no. 1 (February 1, 2020): 103–9. https://doi.org/10.1684/epd.2020.1127.

Full Text

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.

Full Text

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.

Full Text

Fischer-Zirnsak, Björn, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux-Dion, et al. “Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.” Am J Hum Genet 105, no. 3 (September 5, 2019): 631–39. https://doi.org/10.1016/j.ajhg.2019.07.002.

Full Text

Pages