Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Kathryn Swoboda, M.D.


This page shows the publications Kathryn Swoboda has written about Gene Deletion.
Connection Strength

  1. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet. 2019 Mar; 138(3):241-256.
    View in: PubMed
    Score: 0.106
  2. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun; 18(6):453-9.
    View in: PubMed
    Score: 0.050
  3. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. . 2004 Oct 15; 130A(3):307-10.
    View in: PubMed
    Score: 0.039
  4. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clin Genet. 2011 Feb; 79(2):176-82.
    View in: PubMed
    Score: 0.015
  5. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
    View in: PubMed
    Score: 0.014
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.