Harvard Catalyst Profiles

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

Kathryn Swoboda, M.D.

Concepts

This page shows the publications Kathryn Swoboda has written about Genetic Predisposition to Disease.
  1. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol. 2007 Aug; 22(8):957-66.
    View in: PubMed
    Score: 0.075
  2. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602.
    View in: PubMed
    Score: 0.032
  3. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol. 2013 Apr; 73(4):481-8.
    View in: PubMed
    Score: 0.028
  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: 0.021
  5. Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology. 2007 Feb 06; 68(6):451-6.
    View in: PubMed
    Score: 0.018
  6. 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: 0.011
  7. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep; 44(9):1030-4.
    View in: PubMed
    Score: 0.007
  8. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb; 132(Pt 2):452-64.
    View in: PubMed
    Score: 0.005
  9. Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions. J Child Neurol. 2007 Aug; 22(8):926-45.
    View in: PubMed
    Score: 0.005
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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.