Publications
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Filters: Author is Lupski, James R and Keyword is Genomic Structural Variation [Clear All Filters]
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 ;16(1):286.
. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 ;11(12):e1005686.
. Passage number is a major contributor to genomic structural variations in mouse iPSCs. Stem Cells. 2014 ;32(10):2657-67.
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