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 Testing.
Connection Strength

0.152
  1. Disclosure of genetic research results to members of a founder population. J Genet Couns. 2014 Dec; 23(6):984-91.
    View in: PubMed
    Score: 0.057
  2. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. J Child Neurol. 2007 Aug; 22(8):1019-26.
    View in: PubMed
    Score: 0.036
  3. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602.
    View in: PubMed
    Score: 0.015
  4. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol. 2013 Apr; 73(4):481-8.
    View in: PubMed
    Score: 0.013
  5. 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: 0.011
  6. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
    View in: PubMed
    Score: 0.010
  7. 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: 0.010
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.