Connection

JAMES LUPSKI to INDEL Mutation

This is a "connection" page, showing publications JAMES LUPSKI has written about INDEL Mutation.
Connection Strength

0.552
  1. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
    View in: PubMed
    Score: 0.181
  2. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
    View in: PubMed
    Score: 0.165
  3. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
    View in: PubMed
    Score: 0.165
  4. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
    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.