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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

Schoch, Kelly, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, et al. “A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.” Am J Hum Genet 100, no. 2 (February 2, 2017): 343–51. https://doi.org/10.1016/j.ajhg.2016.12.013.

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Shashi, V., A. McConkie-Rosell, K. Schoch, V. Kasturi, C. Rehder, Y. H. Jiang, D. B. Goldstein, and M. T. McDonald. “Practical considerations in the clinical application of whole-exome sequencing.” Clin Genet 89, no. 2 (February 2016): 173–81. https://doi.org/10.1111/cge.12569.

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Goker-Alpan, Ozlem, Nicola Longo, Marie McDonald, Suma P. Shankar, Raphael Schiffmann, Peter Chang, Yinghua Shen, and Arian Pano. “An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy.” Drug Des Devel Ther 10 (2016): 1771–81. https://doi.org/10.2147/DDDT.S102761.

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Rojnueangnit, Kitiwan, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, et al. “High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.” Hum Mutat 36, no. 11 (November 2015): 1052–63. https://doi.org/10.1002/humu.22832.

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Esmaeeli Nieh, Sahar, Maura R. Z. Madou, Minhajuddin Sirajuddin, Brieana Fregeau, Dianalee McKnight, Katrina Lexa, Jonathan Strober, et al. “De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.” Ann Clin Transl Neurol 2, no. 6 (June 2015): 623–35. https://doi.org/10.1002/acn3.198.

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Williams, Jason A., Jennifer M. Hanna, Asad A. Shah, Nicholas D. Andersen, Marie T. McDonald, Yong-Hui Jiang, Stephanie Burns Wechsler, Ali Zomorodi, Richard L. McCann, and G Chad Hughes. “Adult surgical experience with Loeys-Dietz syndrome.” The Annals of Thoracic Surgery 99, no. 4 (April 2015): 1275–81. https://doi.org/10.1016/j.athoracsur.2014.11.021.

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Prasun, Pankaj, Sarah Young, Gajja Salomons, Andrea Werneke, Yong-Hui Jiang, Eduard Struys, Mikell Paige, Maria Laura Avantaggiati, and Marie McDonald. “Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.,” 19:111–15, 2015. https://doi.org/10.1007/8904_2014_378.

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Stewart, Douglas R., Hilde Brems, Alicia G. Gomes, Sarah L. Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes, et al. “Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.” Genetics in Medicine : Official Journal of the American College of Medical Genetics 16, no. 6 (June 2014): 448–59. https://doi.org/10.1038/gim.2013.163.

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Shashi, Vandana, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, and David B. Goldstein. “The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.” Genet Med 16, no. 2 (February 2014): 176–82. https://doi.org/10.1038/gim.2013.99.

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LaBreche, H. G., M. T. McDonald, K. L. Deak, and C. W. Rehder. “Cytogenetic and Clinical Characterization of Three Cases of 17p13.3 Microduplication Involving PAFAH1B (LIS1).” In Cytogenetic and Genome Research, Vol. 142. KARGER, 2014.

Scholars@Duke

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