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Projects

Research Output

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Berry, S. A., Coughlin, C. R., McCandless, S., McCarter, R., Seminara, J., Yudkoff, M. & LeMons, C., Jan 1 2020, In : Genetics in Medicine. 22, 1, p. 219-226 8 p.

Research output: Contribution to journalArticle

Open Access
  • 1 Scopus citations

    Medical foods for inborn errors of metabolism: History, current status, and critical need

    on behalf of the Follow-up and Treatment (FUTR) Workgroup for the Advisory Committee on Heritable Disorders in Newborns and Children, Mar 1 2020, In : Pediatrics. 145, 3, e20192261.

    Research output: Contribution to journalArticle

  • An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

    LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S., Gail Summers, C. & Mukherjee, K., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    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

    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