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 Genes, Recessive.
Connection Strength

  1. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. Am J Med Genet A. 2019 08; 179(8):1575-1579.
    View in: PubMed
    Score: 0.163
  2. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999 Dec; 9(8):564-72.
    View in: PubMed
    Score: 0.042
  3. The critical role of membralin in postnatal motor neuron survival and disease. Elife. 2015 May 15; 4.
    View in: PubMed
    Score: 0.031
  4. A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord. 2009 Apr; 19(4):279-87.
    View in: PubMed
    Score: 0.020
  5. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct; 35(2):185-9.
    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.