20052019

Research output per year

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Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.

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Projects

Research Output

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
  • 5 Scopus citations
    Open Access
  • Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

    McNeill, A. M., Hudock, R. L., Foy, A. M. H., Shanley, R., Semrud-Clikeman, M., Pierpont, M. E., Berry, S. A., Sommer, K., Moertel, C. L. & Pierpont, E. I., Dec 1 2019, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2433-2446 14 p.

    Research output: Contribution to journalArticle

  • Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

    Eisengart, J. B., Pierpont, E. I., Kaizer, A. M., Rudser, K. D., King, K. E., Pasquali, M., Polgreen, L. E., Dickson, P. I., Le, S. Q., Miller, W. P., Tolar, J., Orchard, P. J. & Lund, T. C., Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2552-2560 9 p.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations

    Associations between medical history, cognition, and behavior in youth with down syndrome: A report from the down syndrome cognition project

    Rosser, T. C., Edgin, J. O., Capone, G. T., Hamilton, D. R., Allen, E. G., Dooley, K. J., Anand, P., Strang, J. F., Armour, A. C., Frank-Crawford, M. A., Channell, M. M., Pierpont, E. I., Feingold, E., Maslen, C. L., Reeves, R. H. & Sherman, S. L., Nov 2018, In : American journal on intellectual and developmental disabilities. 123, 6, p. 514-528 15 p.

    Research output: Contribution to journalArticle

  • 6 Scopus citations