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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

Abdelnour, E, Gallentine, W, McDonald, M, Sachdev, M, Jiang, Y-H, and Mikati, MA. "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature." Seizure 55 (December 23, 2017): 1-3.

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Lee, CS, Fu, H, Baratang, N, Rousseau, J, Kumra, H, Sutton, VR, Niceta, M, Ciolfi, A, Yamamoto, G, Bertola, D, Marcelis, CL, Lugtenberg, D, Bartuli, A, Kim, C, Hoover-Fong, J, Sobreira, N, Pauli, R, Bacino, C, Krakow, D, Parboosingh, J, Yap, P, Kariminejad, A, McDonald, MT, Aracena, MI, Lausch, E, Unger, S, Superti-Furga, A, Lu, JT, Baylor-Hopkins Center for Mendelian Genomics, , Cohn, DH, Tartaglia, M, Lee, BH, Reinhardt, DP, and Campeau, PM. "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"." American journal of human genetics 101, no. 5 (November 2017): 815-823.

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Labowsky, MT, Walter, SD, McDonald, MT, and Mruthyunjaya, P. "Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis." Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 21, no. 5 (October 2017): 426-429.e1.

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Stern, D, Cho, MT, Chikarmane, R, Willaert, R, Retterer, K, Kendall, F, Deardorff, M, Hopkins, S, Bedoukian, E, Slavotinek, A, Schrier Vergano, S, Spangler, B, McDonald, M, McConkie-Rosell, A, Burton, BK, Kim, KH, Oundjian, N, Kronn, D, Chandy, N, Baskin, B, Guillen Sacoto, MJ, Wentzensen, IM, McLaughlin, HM, McKnight, D, and Chung, WK. "Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures." Clinical genetics 92, no. 2 (August 2017): 221-223. (Letter)

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Louie, RJ, Tan, QK-G, Gilner, JB, Rogers, RC, Younge, N, Wechsler, SB, McDonald, MT, Gordon, B, Saski, CA, Jones, JR, Chapman, SJ, Stevenson, RE, Sleasman, JW, and Friez, MJ. "Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound." American journal of medical genetics. Part A 173, no. 5 (May 2017): 1219-1225.

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Schoch, K, Meng, L, Szelinger, S, Bearden, DR, Stray-Pedersen, A, Busk, OL, Stong, N, Liston, E, Cohn, RD, Scaglia, F, Rosenfeld, JA, Tarpinian, J, Skraban, CM, Deardorff, MA, Friedman, JN, Akdemir, ZC, Walley, N, Mikati, MA, Kranz, PG, Jasien, J, McConkie-Rosell, A, McDonald, M, Wechsler, SB, Freemark, M, Kansagra, S, Freedman, S, Bali, D, Millan, F, Bale, S, Nelson, SF, Lee, H, Dorrani, N, UCLA Clinical Genomics Center, , Undiagnosed Diseases Network, , Goldstein, DB, Xiao, R, and Yang, Y et al. "A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay." American journal of human genetics 100, no. 2 (February 2017): 343-351.

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Shashi, V, McConkie-Rosell, A, Schoch, K, Kasturi, V, Rehder, C, Jiang, YH, Goldstein, DB, and McDonald, MT. "Practical considerations in the clinical application of whole-exome sequencing." Clinical genetics 89, no. 2 (February 2016): 173-181.

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Goker-Alpan, O, Longo, N, McDonald, M, Shankar, SP, Schiffmann, R, Chang, P, Shen, Y, and Pano, A. "An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy." Drug design, development and therapy 10 (January 2016): 1771-1781.

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Rojnueangnit, K, Xie, J, Gomes, A, Sharp, A, Callens, T, Chen, Y, Liu, Y, Cochran, M, Abbott, M-A, Atkin, J, Babovic-Vuksanovic, D, Barnett, CP, Crenshaw, M, Bartholomew, DW, Basel, L, Bellus, G, Ben-Shachar, S, Bialer, MG, Bick, D, Blumberg, B, Cortes, F, David, KL, Destree, A, Duat-Rodriguez, A, Earl, D, Escobar, L, Eswara, M, Ezquieta, B, Frayling, IM, Frydman, M, Gardner, K, Gripp, KW, Hernández-Chico, C, Heyrman, K, Ibrahim, J, Janssens, S, Keena, BA, Llano-Rivas, I, Leppig, K, and McDonald, M 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." Human mutation 36, no. 11 (November 2015): 1052-1063.

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Esmaeeli Nieh, S, Madou, MRZ, Sirajuddin, M, Fregeau, B, McKnight, D, Lexa, K, Strober, J, Spaeth, C, Hallinan, BE, Smaoui, N, Pappas, JG, Burrow, TA, McDonald, MT, Latibashvili, M, Leshinsky-Silver, E, Lev, D, Blumkin, L, Vale, RD, Barkovich, AJ, and Sherr, EH. "De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy." Annals of clinical and translational neurology 2, no. 6 (June 2015): 623-635.

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