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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

Sen, Partha, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, et al. “Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.” Hum Mutat 34, no. 6 (June 2013): 801–11. https://doi.org/10.1002/humu.22313.

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Nota, Benjamin, Eduard A. Struys, Ana Pop, Erwin E. Jansen, Matilde R. Fernandez Ojeda, Warsha A. Kanhai, Martijn Kranendijk, et al. “Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.” Am J Hum Genet 92, no. 4 (April 4, 2013): 627–31. https://doi.org/10.1016/j.ajhg.2013.03.009.

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Montgomery, Nathan D., Christie M. Turcott, James H. Tepperberg, Marie T. McDonald, and Arthur S. Aylsworth. “A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.” Am J Med Genet A 161A, no. 1 (January 2013): 198–202. https://doi.org/10.1002/ajmg.a.35671.

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DeScipio, Cheryl, Laura Conlin, Jill Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie T. McDonald, et al. “Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.” Am J Med Genet A 158A, no. 9 (September 2012): 2152–61. https://doi.org/10.1002/ajmg.a.35574.

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Need, Anna C., Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V. Shianna, Marie T. McDonald, Miriam H. Meisler, and David B. Goldstein. “Clinical application of exome sequencing in undiagnosed genetic conditions.” J Med Genet 49, no. 6 (June 2012): 353–61. https://doi.org/10.1136/jmedgenet-2012-100819.

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Mefford, Heather C., Jill A. Rosenfeld, Natasha Shur, Anne M. Slavotinek, Victoria A. Cox, Raoul C. Hennekam, Helen V. Firth, et al. “Further clinical and molecular delineation of the 15q24 microdeletion syndrome.” J Med Genet 49, no. 2 (February 2012): 110–18. https://doi.org/10.1136/jmedgenet-2011-100499.

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Wooderchak, W., F. Gedge, M. McDonald, P. Krautscheid, X. Wang, J. Malkiewicz, C. J. Bukjiok, T. Lewis, and P. Bayrak-Toydemir. “Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.” Clin Genet 78, no. 5 (November 2010): 484–89. https://doi.org/10.1111/j.1399-0004.2010.01418.x.

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Yu, Timothy W., Ganeshwaran H. Mochida, David J. Tischfield, Sema K. Sgaier, Laura Flores-Sarnat, Consolato M. Sergi, Meral Topçu, et al. “Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.” Nat Genet 42, no. 11 (November 2010): 1015–20. https://doi.org/10.1038/ng.683.

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Girirajan, Santhosh, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, et al. “A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.” Nat Genet 42, no. 3 (March 2010): 203–9. https://doi.org/10.1038/ng.534.

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Messiaen, Ludwine, Suxia Yao, Hilde Brems, Tom Callens, Achara Sathienkijkanchai, Ellen Denayer, Emily Spencer, et al. “Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.” Jama 302, no. 19 (November 18, 2009): 2111–18. https://doi.org/10.1001/jama.2009.1663.

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