Connection

JAMES LUPSKI to Nonsense Mediated mRNA Decay

This is a "connection" page, showing publications JAMES LUPSKI has written about Nonsense Mediated mRNA Decay.
Connection Strength

1.011
  1. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 02; 188(2):648-657.
    View in: PubMed
    Score: 0.811
  2. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
    View in: PubMed
    Score: 0.159
  3. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
    View in: PubMed
    Score: 0.040
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.