Marie Theresa McDonald | Scholars@Duke

Marie Theresa McDonald
Professor of Pediatrics

My current research interests are in the field of Clinical Genetics, Dysmorphology, and Fabry disease.

Current Appointments & Affiliations

Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2021

Contact Information

2082 GSRB1, Box 103857, Durham, NC 27710
2082 GSRB1, Box 103857, Durham, NC 27710
mcdon035@mc.duke.edu (919) 681-1982

Background
Education, Training, & Certifications
- M.D., University Dublin Trinity College (Ireland) 1988
Previous Appointments & Affiliations
- Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2012 - 2020
- Associate Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2006 - 2012
- Associate Clinical Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2005 - 2006
- Assistant Professor of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 1998 - 2005
- Instructor, Temporary of Pediatrics, Pediatrics, Clinical Science Departments 1998
Research
Selected Grants
- Residency/Fellowship Training in Medical Genetics awarded by Genzyme Corporation 2022 - 2024
- Residency in Medical Genetics at Duke University awarded by Genzyme Corporation 2021 - 2024
- Postdoctoral Training in Genomic Medicine Research awarded by National Institutes of Health 2017 - 2023
- A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta awarded by Protalix LTD. 2018 - 2021
- ACMG Foundation Next Generation awarded by American College of Medical Genetics and Genomics Foundation 2018 - 2020
- A Clinical Trial of Donepezil for Down Syndrome awarded by National Institutes of Health 2001 - 2004
Publications & Artistic Works
Selected Publications
- Academic Articles
  - Khazaei, Sima, Carol C. L. Chen, Augusto Faria Andrade, Nisha Kabir, Pariya Azarafshar, Shahir M. Morcos, Josiane Alves França, et al. “Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.” Cell 186, no. 6 (March 16, 2023): 1162-1178.e20. https://doi.org/10.1016/j.cell.2023.02.023.
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  - Laboy Cintron, D., A. M. Muir, A. Scott, M. McDonald, K. G. Monaghan, T. Santiago-Sim, I. M. Wentzensen, et al. “A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.” Human Genetics and Genomics Advances 3, no. 1 (January 13, 2022). https://doi.org/10.1016/j.xhgg.2021.100072.
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  - Zhang, Chaofan, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, et al. “Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.” Hgg Adv 3, no. 1 (January 13, 2022): 100074. https://doi.org/10.1016/j.xhgg.2021.100074.
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  - Bai, Renkui, Hong Cui, Joseph M. Devaney, Katrina M. Allis, Amanda M. Balog, Xinyue Liu, Rhonda E. Schnur, et al. “Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.” Genet Med 23, no. 8 (August 2021): 1514–21. https://doi.org/10.1038/s41436-021-01166-1.
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  - Chowdhury, Fuad, Lei Wang, Mohammed Al-Raqad, David J. Amor, Alice Baxová, Šárka Bendová, Elisa Biamino, et al. “Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.” Genet Med 23, no. 7 (July 2021): 1234–45. https://doi.org/10.1038/s41436-021-01129-6.
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  - Cousin, Margot A., Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, et al. “Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.” Nat Genet 53, no. 7 (July 2021): 1006–21. https://doi.org/10.1038/s41588-021-00886-z.
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  - Moss, Tonya, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie McDonald, Michael Friez, Allyn McConkie-Rosell, and Richard Steet. “Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.” Cold Spring Harb Mol Case Stud 7, no. 3 (June 2021). https://doi.org/10.1101/mcs.a006081.
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  - Klöckner, Chiara, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, et al. “Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.” Genet Med 23, no. 4 (April 2021): 796. https://doi.org/10.1038/s41436-020-01090-w.
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  - Moya-Mendez, Mary E., David M. Mueller, Milton Pratt, Melanie Bonner, Courtney Elliott, Arsen Hunanyan, Gary Kucera, et al. “Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.” Epilepsy Behav 116 (March 2021): 107732. https://doi.org/10.1016/j.yebeh.2020.107732.
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  - Williams, Jason L., Marie T. McDonald, Bryce A. Seifert, Kristen L. Deak, Catherine W. Rehder, and Michael J. Campbell. “An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.” J Pediatr Genet 10, no. 1 (March 2021): 35–38. https://doi.org/10.1055/s-0039-1701020.
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  - Ghosh, Shereen G., Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, et al. “A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.” Eur J Hum Genet 29, no. 2 (February 2021): 271–79. https://doi.org/10.1038/s41431-020-00717-5.
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  - Lessel, Davor, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, et al. “Germline AGO2 mutations impair RNA interference and human neurological development.” Nat Commun 11, no. 1 (November 16, 2020): 5797. https://doi.org/10.1038/s41467-020-19572-5.
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  - Guo, Hui, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, et al. “NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.” Am J Hum Genet 107, no. 5 (November 5, 2020): 963–76. https://doi.org/10.1016/j.ajhg.2020.10.002.
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  - Robinson, H. K., E. Zaklyazminskaya, I. Povolotskaya, Y. Surikova, L. Mallin, C. Armstrong, D. Mabin, et al. “Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.” Clin Genet 98, no. 4 (October 2020): 331–40. https://doi.org/10.1111/cge.13812.
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  - Zhang, Guohui, Rebecca A. Gibson, Marie McDonald, Pengfei Liang, Po Wei Kang, Jingyi Shi, Huanghe Yang, Jianmin Cui, and Mohamad A. Mikati. “A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.” Mov Disord 35, no. 10 (October 2020): 1868–73. https://doi.org/10.1002/mds.28138.
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  - 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 182, no. 8 (August 2020): 1947–51. https://doi.org/10.1002/ajmg.a.61630.
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  - 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.
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  - 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.
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  - 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.
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  - 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.” American Journal of Human Genetics 106, no. 6 (June 2020): 830–45. https://doi.org/10.1016/j.ajhg.2020.04.015.
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  - 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.
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  - 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.
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  - 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.
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  - 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.
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  - 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.
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  - Coppola, Tiziana, Bradford Becken, Heather Van Mater, Marie Theresa McDonald, and Gabriela Maradiaga Panayotti. “A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.” Bmc Pediatr 19, no. 1 (July 20, 2019): 245. https://doi.org/10.1186/s12887-019-1617-1.
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  - Abdelnour, Elie, William Gallentine, Marie McDonald, Monisha Sachdev, Yong-Hui Jiang, and Mohamad A. Mikati. “Corrigendum to "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].” Seizure 69 (July 2019): 305. https://doi.org/10.1016/j.seizure.2019.04.014.
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  - Koczkowska, Magdalena, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, et al. “Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.” Genet Med 21, no. 4 (April 2019): 867–76. https://doi.org/10.1038/s41436-018-0269-0.
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  - Helbig, Katherine L., Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.” Am J Hum Genet 104, no. 3 (March 7, 2019): 562. https://doi.org/10.1016/j.ajhg.2019.02.015.
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  - Koczkowska, Magdalena, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, et al. “Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.” Genet Med 21, no. 3 (March 2019): 764–65. https://doi.org/10.1038/s41436-018-0326-8.
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  - Ganapathi, Mythily, Leah R. Padgett, Kentaro Yamada, Orrin Devinsky, Rebecca Willaert, Richard Person, Ping-Yee Billie Au, et al. “Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.” Am J Hum Genet 104, no. 2 (February 7, 2019): 287–98. https://doi.org/10.1016/j.ajhg.2018.12.017.
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  - Dowsett, Leah, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, et al. “Cornelia de Lange syndrome in diverse populations.” Am J Med Genet A 179, no. 2 (February 2019): 150–58. https://doi.org/10.1002/ajmg.a.61033.
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  - Khan, Tahir N., Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, et al. “Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.” Am J Hum Genet 104, no. 1 (January 3, 2019): 94–111. https://doi.org/10.1016/j.ajhg.2018.11.017.
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  - Slone, Jesse, Yanyan Peng, Adam Chamberlin, Belinda Harris, Julie Kaylor, Marie T. McDonald, Monica Lemmon, et al. “Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.” J Hum Genet 63, no. 12 (December 2018): 1211–22. https://doi.org/10.1038/s10038-018-0515-y.
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  - 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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  - 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.” Ann Thorac Surg 99, no. 4 (April 2015): 1275–81. https://doi.org/10.1016/j.athoracsur.2014.11.021.
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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.” Genet Med 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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  - 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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  - Ballif, Blake C., Aaron Theisen, Justine Coppinger, Gordon C. Gowans, Joseph H. Hersh, Suneeta Madan-Khetarpal, Karen R. Schmidt, et al. “Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.” Mol Cytogenet 1 (April 28, 2008): 8. https://doi.org/10.1186/1755-8166-1-8.
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  - Gururangan, Sridharan, Wendy Frankel, Russell Broaddus, Mark Clendenning, Leigha Senter, Marie McDonald, James Eastwood, et al. “Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.” Neuro Oncol 10, no. 1 (February 2008): 93–97. https://doi.org/10.1215/15228517-2007-037.
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  - Krishnamurthy, V., K. Eschrich, A. Boney, J. Sullivan, M. McDonald, P. S. Kishnani, and D. D. Koeberl. “Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.” J Inherit Metab Dis 30, no. 5 (October 2007): 819. https://doi.org/10.1007/s10545-007-0606-y.
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  - Shaffer, Lisa G., Aaron Theisen, Bassem A. Bejjani, Blake C. Ballif, Arthur S. Aylsworth, Cynthia Lim, Marie McDonald, et al. “The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.” Genet Med 9, no. 9 (September 2007): 607–16. https://doi.org/10.1097/gim.0b013e3181484b49.
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  - Banikazemi, Maryam, Jan Bultas, Stephen Waldek, William R. Wilcox, Chester B. Whitley, Marie McDonald, Richard Finkel, et al. “Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.” Ann Intern Med 146, no. 2 (January 16, 2007): 77–86. https://doi.org/10.7326/0003-4819-146-2-200701160-00148.
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  - Kishnani, P. S., D. Corzo, M. Nicolino, B. Byrne, H. Mandel, W. L. Hwu, N. Leslie, et al. “Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.” Neurology 68, no. 2 (January 9, 2007): 99–109. https://doi.org/10.1212/01.wnl.0000251268.41188.04.
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  - Tan, K. M., B. Austin, M. Shaughnessy, M. McDonald, S. O’Keeffe, and E. C. Mulkerrin. “An audit of the impact of implementation of a stroke care pathway in an acute teaching hospital.” Ir J Med Sci 176, no. 2 (2007): 75–79. https://doi.org/10.1007/s11845-007-0029-7.
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  - Robin, Nathaniel H., Clare J. Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter Bingham, Kevin J. Collins, Dawn Earl, et al. “Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.” Am J Med Genet A 140, no. 22 (November 15, 2006): 2416–25. https://doi.org/10.1002/ajmg.a.31443.
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  - Poss, Alexis F., Paula C. Goldenberg, Catherine W. Rehder, Hutton M. Kearney, Elizabeth C. Melvin, Dwight D. Koeberl, and Marie T. McDonald. “Clinical experience with array CGH: case presentations from nine months of practice.” Am J Med Genet A 140, no. 19 (October 1, 2006): 2050–56. https://doi.org/10.1002/ajmg.a.31417.
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  - Challa, Pratap, Michael Arthur Hauser, Coralia Catalina Luna, Sharon Fridovich Freedman, Margaret Pericak-Vance, Jun Yang, Marie Theresa McDonald, and R Rand Allingham. “Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.” Mol Vis 12 (August 28, 2006): 1009–15.
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  - Franco, Luis M., Jennifer Goldstein, Neil S. Prose, M Angélica Selim, Carlos A. Tirado, Melissa M. Coale, and Marie T. McDonald. “Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.” J Am Acad Dermatol 55, no. 1 (July 2006): 136–38. https://doi.org/10.1016/j.jaad.2005.11.1068.
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  - Kalfa, Theodosia A., Sherri A. Zimmerman, Barbara K. Goodman, Marie T. McDonald, and Russell E. Ware. “Pelger-Huët anomaly in a child with 1q42.3-44 deletion.” Pediatr Blood Cancer 46, no. 5 (May 1, 2006): 645–48. https://doi.org/10.1002/pbc.20504.
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  - Smith, A. C., T. Rubin, C. Shuman, L. Estabrooks, A. S. Aylsworth, M. T. McDonald, L. Steele, P. N. Ray, and R. Weksberg. “New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.” Cytogenet Genome Res 113, no. 1–4 (2006): 313–17. https://doi.org/10.1159/000090847.
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  - Quigley, Denise I., Marie T. McDonald, Vidya Krishnamuthy, Priya S. Kishnani, Mary M. Lee, Andrea M. Haqq, and Barbara K. Goodman. “Triploid mosaicism in a 45,X/69,XXY infant.” Am J Med Genet A 138A, no. 2 (October 1, 2005): 171–74. https://doi.org/10.1002/ajmg.a.30943.
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  - Johnston, Jennifer J., Isabelle Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, et al. “Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.” Am J Hum Genet 76, no. 4 (April 2005): 609–22. https://doi.org/10.1086/429346.
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  - Tan, K. M., B. Austin, M. Shaughnassy, C. Higgins, M. McDonald, E. C. Mulkerrin, and S. T. O’Keeffe. “Falls in an acute hospital and their relationship to restraint use.” Ir J Med Sci 174, no. 3 (2005): 28–31. https://doi.org/10.1007/BF03169144.
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  - Hanna, R., M. T. McDonald, J. A. Sullivan, J. F. Mackey, V. Krishnamurthy, and P. S. Kishnani. “Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.” J Inherit Metab Dis 27, no. 5 (2004): 687–90. https://doi.org/10.1023/b:boli.0000043027.80328.75.
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  - Ensenauer, Regina E., Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D Brian Dawson, Erik C. Thorland, et al. “Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.” Am J Hum Genet 73, no. 5 (November 2003): 1027–40. https://doi.org/10.1086/378818.
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  - Koeberl, Dwight D., Sarah P. Young, Niels S. Gregersen, Jerry Vockley, Wendy E. Smith, Daniel Kelly Benjamin, Yan An, et al. “Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.” Pediatr Res 54, no. 2 (August 2003): 219–23. https://doi.org/10.1203/01.PDR.0000074972.36356.89.
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  - Koeberl, D. D., D. S. Millington, W. E. Smith, S. D. Weavil, J. Muenzer, S. E. McCandless, P. S. Kishnani, et al. “Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.” J Inherit Metab Dis 26, no. 1 (2003): 25–35. https://doi.org/10.1023/a:1024015227863.
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  - Wassem, Rebecca, Marie McDonald, and Janet Racine. “Fibromyalgia: patient perspectives on symptoms, symptom management, and provider utilization.” Clin Nurse Spec 16, no. 1 (January 2002): 24–28. https://doi.org/10.1097/00002800-200201000-00009.
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  - Erickson, R. P., S. L. Dagenais, M. S. Caulder, C. A. Downs, G. Herman, M. C. Jones, W. S. Kerstjens-Frederikse, et al. “Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.” J Med Genet 38, no. 11 (November 2001): 761–66. https://doi.org/10.1136/jmg.38.11.761.
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  - Glover, T. W., R. P. Erickson, S. L. Dagenais, M. T. McDonald, M. S. Caulder, B. P. Brooks, and M. W. Glynn. “Phenotypic heterogeneity in lymphedema-distichiasis with FOXC2 mutations.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 631–631.
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  - Nandi, K. N., M. T. McDonald, K. K. Rogers, and K. W. Rao. “Mosaicism for two de novo supernumerary markers derived from chromosomes 18 and 13.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 318–318.
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  - Breen, C. M., K. J. Butnor, M. T. McDonald, and W. D. Bradford. “Congenital diaphragmatic defects: An autopsy case series.” Modern Pathology 14, no. 1 (January 1, 2001): 5A-5A.
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  - Breen, C. M., K. J. Butnor, M. T. McDonald, and W. D. Bradford. “Congenital diaphragmatic defects: An autopsy case series.” Laboratory Investigation 81, no. 1 (January 1, 2001): 5A-5A.
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  - Persaud, D. A., S. A. Schmidt, S. G. West, M. A. Pericak-Vance, J. M. Vance, and M. T. McDonald. “Refinement of a locus on chromosome 16q24.3 for Lymphedema-Distichiasis.” American Journal of Human Genetics 67, no. 4 (October 1, 2000): 313–313.
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  - McDonald, M. T., W. Flejter, S. Sheldon, M. J. Putzi, and J. L. Gorski. “XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.” Am J Med Genet 73, no. 3 (December 19, 1997): 321–26.
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  - Gorski, J. L., M. D. Bialecki, M. T. McDonald, H. F. Massa, B. J. Trask, and E. N. Burright. “Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig.” Genomics 35, no. 2 (July 15, 1996): 338–45. https://doi.org/10.1006/geno.1996.0365.
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  - Flejter, W. L., P. E. Bennett-Baker, M. Ghaziuddin, M. McDonald, S. Sheldon, and J. L. Gorski. “Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.” Am J Med Genet 61, no. 2 (January 11, 1996): 182–87. https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO;2-Q.
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  - Badawi, N., S. F. Cahalane, M. McDonald, P. Mulhair, B. Begi, A. O’Donohue, and E. Naughten. “Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992.” Ir Med J 89, no. 1 (January 1996): 16–17.
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  - McDonald, M. T., K. A. Papenberg, S. Ghosh, A. A. Glatfelter, B. B. Biesecker, E. A. Helmbold, D. S. Markel, A. Zolotor, W. C. McKinnon, and J. L. Vanderstoep. “A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.” Nat Genet 6, no. 2 (February 1994): 197–204. https://doi.org/10.1038/ng0294-197.
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  - McDonald, M., S. Maynard, S. Sheldon, and J. Innis. “Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.” Am J Med Genet 49, no. 3 (February 1, 1994): 288–93. https://doi.org/10.1002/ajmg.1320490309.
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  - McDonald, M. T., and J. L. Gorski. “Nager acrofacial dysostosis.” J Med Genet 30, no. 9 (September 1993): 779–82. https://doi.org/10.1136/jmg.30.9.779.
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  - McDonald, M. T., K. A. Papenberg, A. A. Glatfelter, J. L. Vander-Stoep, and D. A. Marchuk. “Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13.” Hum Mol Genet 2, no. 5 (May 1993): 619. https://doi.org/10.1093/hmg/2.5.619-a.
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  - Gallagher, J. E. A., A. Curtain, T. O’Connor, J. McKiernan, E. Cotter, D. McDonnell, A. Corry, et al. “Irish perinatal society - Proceedings of scientific meeting held in Cork, March 20-22nd, 1992.” Irish Journal of Medical Science 162, no. 10 (January 1, 1993): 419–21. https://doi.org/10.1007/BF02996322.
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  - McGibney, C. A., P. J. Byrne, P. Lawlor, B. Denham, T. P. J. Hennessy, P. Greally, F. J. Hampton, et al. “Irish paediatric association - Proceedings of meeting.” Irish Journal of Medical Science 161, no. 7 (July 1, 1992): 474–80. https://doi.org/10.1007/BF02942160.
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  - McDonald, M., A. Moloney, T. A. Clarke, and T. G. Matthews. “Blood cultures and antibiotic use in a neonatal intensive care unit.” Ir J Med Sci 161, no. 1 (January 1992): 3–4. https://doi.org/10.1007/BF02984666.
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  - Jackson, J., M. McDonald, E. Casey, S. Kelleher, A. Murray, I. Temperley, G. Shanik, C. Feighery, and F. Jackson. “Mixed connective tissue disease with arterial thrombosis, antiphospholipid antibodies and heparin induced thrombocytopenia.” J Rheumatol 17, no. 11 (November 1990): 1523–24.
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  - Watson, R. G. P., B. M. Bhatt, K. G. Porter, C. Doherty, C. McCaughey, T. S. Wilson, D. F. Hughes, et al. “Irish society of gastroenterlogy - Proceedings of Winter Meeting, Belfast City Hospital, Friday 24th and Saturday 25th November, 1989.” Irish Journal of Medical Science 159, no. 7 (July 1, 1990): 219–25. https://doi.org/10.1007/BF02937271.
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  - Murray, A., J. Lackson, M. Soden, C. Feighery, C. Quinn, K. Mulpeter, E. Casey, et al. “Irish association for rheumatology & rehabilitation - Proceedings of annual general meeting, Friday 3rd November 1989, university college, Cork.” Irish Journal of Medical Science 159, no. 4 (January 1, 1990): 111–16. https://doi.org/10.1007/BF02937444.
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  - FitzGerald, O., M. Soden, R. Robinson, B. Bresnihan, G. Yanni, J. Donoghue, M. Carmody, et al. “Irish Association For Rheumatology And Rehabilitation Annual General Meeting, Friday, Nov. 4Th At Beaumont Hospital - Proceedings of Meeting held on Friday, November 4th, 1988 at Beaumont Hospital, Dublin.” Irish Journal of Medical Science 158, no. 5 (May 1, 1989): 132–36. https://doi.org/10.1007/BF02943043.
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- Book Sections
  - 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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- Conference Papers
  - Klöckner, Chiara, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, et al. “De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.” In Genet Med, 23:653–60, 2021. https://doi.org/10.1038/s41436-020-01020-w.
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  - Coker, Jennifer, Ashlee R. Stiles, Deeksha Bali, Sara P. Young, Marie T. McDonald, and Areeg El-Gharbawy. “Phenotypic target organ and biomarker variation within a family with late onset Fabry disease.” In Molecular Genetics and Metabolism, 132:S27–S27. Elsevier BV, 2021. https://doi.org/10.1016/j.ymgme.2020.12.045.
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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.
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  - Thorland, E. C., R. E. Ensenauer, A. Adeyinka, H. C. Flynn, D. B. Dawson, J. L. Goldstein, M. T. McDonald, and S. M. Jalal. “Characterization of novel 4 and 6 Mb LCR-mediated microduplications involving the 22q11.2 DiGeorge/velocardiofacial syndrome region.” In American Journal of Human Genetics, 73:309–309. UNIV CHICAGO PRESS, 2003.
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  - Kalfa, T. A., S. A. Zimmerman, M. T. McDonald, and R. E. Ware. “Pelger-Huet anomaly in a child with 1q42.3-44 deletion.” In Pediatric Research, 53:296A-296A. INT PEDIATRIC RESEARCH FOUNDATION, INC, 2003.
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  - Golembiewski-Ruiz, V., C. A. Tirado, K. Curesky, J. Goldstein, A. McKonkie-Rosell, M. T. McDonald, and B. K. Goodman. “Cytogenetic and FISH analysis of an interstitial 1q42.3-q44 deletion.” In American Journal of Human Genetics, 71:305–305. UNIV CHICAGO PRESS, 2002.
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  - Challa, P., N. S. Wagle, S. F. Freedman, M. T. McDonald, and R. R. Allingham. “A novel inherited syndrome of early lens dislocation.” In Investigative Ophthalmology & Visual Science, 40:S888–S888. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 1999.
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