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 Abnormalities, Multiple.
Connection Strength

0.530
  1. NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. Neurology. 2016 Sep 13; 87(11):1131-9.
    View in: PubMed
    Score: 0.383
  2. Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. Hum Mutat. 2011 Apr; 32(4):456-66.
    View in: PubMed
    Score: 0.066
  3. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
    View in: PubMed
    Score: 0.059
  4. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602.
    View in: PubMed
    Score: 0.022
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.