Scholars@Duke

• Background
• 

  Education, Training, & Certifications

  • 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
• 

  Duke Appointment History

  • Medical Instructor in the Department of Pediatrics, Pediatrics, Neurology, Pediatrics 2014 - 2016
• Research
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  Selected Grants

  • An integrated and diverse genomic medicine program for undiagnosed diseases awarded by National Institutes of Health 2014 - 2022
• Publications & Artistic Works
• 

  Selected Publications

  • Academic Articles

    • 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). 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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    • Doolittle, Benjamin, Malachi Courtney, and Joan Jasien. “Satisfaction With Life, Coping, and Spirituality Among Urban Families..” J Prim Care Community Health 6, no. 4 (October 2015): 256–59. https://doi.org/10.1177/2150131915596961.
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    • Daimon, Caitlin M., Joan M. Jasien, William H. Wood, Yongqing Zhang, Kevin G. Becker, Jill L. Silverman, Jacqueline N. Crawley, Bronwen Martin, and Stuart Maudsley. “Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder..” Front Physiol 6 (2015). https://doi.org/10.3389/fphys.2015.00324.
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    • Bosemani, T., J. Jasien, M. V. Johnston, T. A. G. M. Huisman, A. Poretti, and F. J. Northington. “Neonatal neuroimaging findings in congenital myotonic dystrophy..” J Perinatol 34, no. 2 (February 2014): 159–60. https://doi.org/10.1038/jp.2013.142.
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    • Jasien, Joan M., Caitlin M. Daimon, Rui Wang, Bruce K. Shapiro, Bronwen Martin, and Stuart Maudsley. “The effects of aging on the BTBR mouse model of autism spectrum disorder..” Front Aging Neurosci 6 (2014). https://doi.org/10.3389/fnagi.2014.00225.
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    • Jasien, J., C. M. Daimon, S. Maudsley, B. K. Shapiro, and B. Martin. “Aging and bone health in individuals with developmental disabilities.” International Journal of Endocrinology 2012 (August 17, 2012). https://doi.org/10.1155/2012/469235.
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    • JM, Jasien. “Signs of Aspiration in Adults with Down Syndrome: Prevalence as Determined Using A WaterSwallowing Screen and Caregiver Report.” Journal of Neurology and Neurobiology 2, no. 2 (n.d.). https://doi.org/10.16966/2379-7150.120.
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  • Book Sections

    • Jasien, J. M., B. K. Shapiro, and A. H. Hoon. “Cerebral Palsy.” In Neurobiology of Disease. Oxford University Press, USA, 2016.

  • Other Articles

    • Jasien, J. M. “Perinatal hypoxia-ischemic encephalopathy,” n.d.

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