Deborah S Barbouth

Associate Professor of Clinical

  • 573 Citations
20022020

Research output per year

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Research Output

  • 573 Citations
  • 30 Article
  • 4 Comment/debate
  • 2 Review article

A founder noncoding GALT variant interfering with splicing causes galactosemia

Latchman, K., Brown, J., Sineni, C. J., Ragin-Dames, L., Guo, S., Huang, J., Thorson, W., Hacker, S., Barbouth, D. S., Tekin, M. & Bademci, G., 2020, (Accepted/In press) In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

  • De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    Undiagnosed Diseases Network, Apr 2 2020, In : American journal of human genetics. 106, 4, p. 570-583 14 p.

    Research output: Contribution to journalArticle

  • Gaucher disease and SARS-CoV-2 infection: Emerging management challenges

    Mistry, P., Balwani, M., Barbouth, D., Burrow, T. A., Ginns, E. I., Goker-Alpan, O., Grabowski, G. A., Kartha, R. V., Kishnani, P. S., Lau, H., Lee, C. U., Lopez, G., Maegawa, G., Packman, S., Prada, C., Rosenbloom, B., Lal, T. R., Schiffmann, R., Weinreb, N. & Sidransky, E., Jul 2020, In : Molecular Genetics and Metabolism. 130, 3, p. 164-169 6 p.

    Research output: Contribution to journalComment/debate

    Open Access
    2 Scopus citations

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Undiagnosed Diseases Network, Care4Rare Canada Consortium, Jul 1 2020, In : Genetics in Medicine. 22, 7, p. 1215-1226 12 p.

    Research output: Contribution to journalArticle

  • Arnold-Chiari type 1 malformation in Potocki–Lupski syndrome

    Varon, A., Whitt, Z., Kalika, P. M., Potocki, L., Barbouth, D. S. & Walz, K., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1366-1370 5 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations