JAMES LUPSKI to Chromosomes, Human, Pair 14
This is a "connection" page, showing publications JAMES LUPSKI has written about Chromosomes, Human, Pair 14.
Connection Strength
1.185
-
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.577
-
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007 May; 121(3-4):433-9.
Score: 0.247
-
A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet. 1998 Sep; 103(3):328-33.
Score: 0.138
-
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr; 50(4):690-9.
Score: 0.088
-
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet. 2002 Oct; 32(2):267-72.
Score: 0.046
-
Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet. 2001 Aug 01; 102(2):173-82.
Score: 0.042
-
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50.
Score: 0.026
-
Olfactory copy number association with age at onset of Alzheimer disease. Neurology. 2011 Apr 12; 76(15):1302-9.
Score: 0.021