Harvard Catalyst Profiles

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Kathryn Swoboda, M.D.

Concepts

This page shows the publications Kathryn Swoboda has written about Autoimmune Diseases of the Nervous System.
  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. . 2015 Feb; 167A(2):296-312.
    View in: PubMed
    Score: 0.140
  2. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013 Dec; 12(12):1159-69.
    View in: PubMed
    Score: 0.129
  3. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. Hum Mutat. 2013 Aug; 34(8):1066-70.
    View in: PubMed
    Score: 0.125
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.