JAMES LUPSKI to Whole Genome Sequencing
This is a "connection" page, showing publications JAMES LUPSKI has written about Whole Genome Sequencing.
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0.344
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat. 2017 02; 38(2):180-192.
Score: 0.121
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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 Sep; 140(9):1299-1312.
Score: 0.041
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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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Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 11; 41(11):1979-1998.
Score: 0.039
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 05; 182(5):1143-1151.
Score: 0.038
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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat. 2018 07; 39(7):939-946.
Score: 0.033
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.032