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Joan Mary Jasien, MD

Assistant Professor of Pediatrics
Email address: joan.jasien@duke.edu

Education and Training

  • Combined Medicine/Pediatrics Internship and Residency, Medicine/Pediatrics Residency Program, Yale University School of Medicine, 2005 - 2009
  • M.D., University of Minnesota, Medical School, 2005

Publications

Capone, George, Mary Stephens, Stephanie Santoro, Brian Chicoine, Peter Bulova, Moya Peterson, Joan Jasien, Anna Jo Smith, and Anna Jo Down Syndrome Medical Interest Group (DSMIG-USA) Adult Health Workgroup. “Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.” Am J Med Genet A 182, no. 7 (July 2020): 1832–45. https://doi.org/10.1002/ajmg.a.61604.

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Shashi, Vandana, Janelle Geist, Youngha Lee, Yongjin Yoo, Unbeom Shin, Kelly Schoch, Jennifer Sullivan, et al. “Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.” Hum Mutat 40, no. 8 (August 2019): 1115–26. https://doi.org/10.1002/humu.23760.

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Cardinale, Kathleen M., Alexandra Bocharnikov, Sarah J. Hart, Jane Ann Baker, Christopher Eckstein, Joan M. Jasien, William Gallentine, Gordon Worley, Priya S. Kishnani, and Heather Van Mater. “Immunotherapy in selected patients with Down syndrome disintegrative disorder.” Dev Med Child Neurol 61, no. 7 (July 2019): 847–51. https://doi.org/10.1111/dmcn.14127.

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Jasien, Joan M., Melanie Bonner, Richard D’alli, Lyndsey Prange, Melissa Mclean, Monisha Sachdev, Julie Uchitel, Jennifer Ricano, Brian Smith, and Mohamad A. Mikati. “Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.” Dev Med Child Neurol 61, no. 5 (May 2019): 547–54. https://doi.org/10.1111/dmcn.14077.

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Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 3 (September 6, 2018): 456. https://doi.org/10.1016/j.ajhg.2018.08.010.

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Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 2 (August 2, 2018): 245–60. https://doi.org/10.1016/j.ajhg.2018.07.006.

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Pena, Loren D. M., Yong-Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, et al. “Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.” Genet Med 20, no. 4 (April 2018): 464–69. https://doi.org/10.1038/gim.2017.128.

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Masoud, Melanie, Kelly Gordon, Amanda Hall, Joan Jasien, Kara Lardinois, Julie Uchitel, Melissa Mclean, Lyndsey Prange, Jeffrey Wuchich, and Mohamad A. Mikati. “Motor function domains in alternating hemiplegia of childhood.” Dev Med Child Neurol 59, no. 8 (August 2017): 822–28. https://doi.org/10.1111/dmcn.13443.

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Chung, Richard J., Joan Jasien, and Gary R. Maslow. “Resident Dyads Providing Transition Care to Adolescents and Young Adults With Chronic Illnesses and Neurodevelopmental Disabilities.” J Grad Med Educ 9, no. 2 (April 2017): 222–27. https://doi.org/10.4300/JGME-D-16-00292.1.

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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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