Connection

JAMES LUPSKI to Chromosomes, Human, Pair 2

This is a "connection" page, showing publications JAMES LUPSKI has written about Chromosomes, Human, Pair 2.
Connection Strength

1.332
  1. Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238.
    View in: PubMed
    Score: 0.908
  2. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet. 1998 Feb; 62(2):325-33.
    View in: PubMed
    Score: 0.144
  3. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028.
    View in: PubMed
    Score: 0.113
  4. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
    View in: PubMed
    Score: 0.096
  5. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet. 2001 Mar; 68(3):606-16.
    View in: PubMed
    Score: 0.044
  6. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
    View in: PubMed
    Score: 0.026
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.