Connection

DONNA MUZNY to Proteins

This is a "connection" page, showing publications DONNA MUZNY has written about Proteins.
Connection Strength

0.536
  1. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703.
    View in: PubMed
    Score: 0.102
  2. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
    View in: PubMed
    Score: 0.087
  3. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215.
    View in: PubMed
    Score: 0.083
  4. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
    View in: PubMed
    Score: 0.077
  5. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9.
    View in: PubMed
    Score: 0.064
  6. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 09 01; 26(17):3442-3450.
    View in: PubMed
    Score: 0.024
  7. Large-scale concatenation cDNA sequencing. Genome Res. 1997 Apr; 7(4):353-8.
    View in: PubMed
    Score: 0.023
  8. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
    View in: PubMed
    Score: 0.020
  9. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 Nov 15; 491(7424):399-405.
    View in: PubMed
    Score: 0.017
  10. The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science. 2009 Apr 24; 324(5926):522-8.
    View in: PubMed
    Score: 0.013
  11. The genome of the sea urchin Strongylocentrotus purpuratus. Science. 2006 Nov 10; 314(5801):941-52.
    View in: PubMed
    Score: 0.011
  12. Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15; 409(6822):860-921.
    View in: PubMed
    Score: 0.008
  13. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 Mar; 6(3):479-86.
    View in: PubMed
    Score: 0.006
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.