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
1.170
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.615
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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: 0.264
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A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet. 1998 Sep; 103(3):328-33.
Score: 0.147
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Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr; 50(4):690-9.
Score: 0.094
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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50.
Score: 0.028
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Olfactory copy number association with age at onset of Alzheimer disease. Neurology. 2011 Apr 12; 76(15):1302-9.
Score: 0.022