JAMES LUPSKI to Genomic Structural Variation
This is a "connection" page, showing publications JAMES LUPSKI has written about Genomic Structural Variation.
Connection Strength
1.503
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Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 2015 06; 56(5):419-36.
Score: 0.422
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Structural variation in the human genome and its role in disease. Annu Rev Med. 2010; 61:437-55.
Score: 0.293
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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 Dec 31; 18(1):16.
Score: 0.222
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.138
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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 Dec; 11(12):e1005686.
Score: 0.110
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Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.105
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Passage number is a major contributor to genomic structural variations in mouse iPSCs. Stem Cells. 2014 Oct; 32(10):2657-67.
Score: 0.102
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.050
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.039
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Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. Hum Mol Genet. 2013 Jul 01; 22(13):2642-51.
Score: 0.023