RICHARD GIBBS to DNA Mutational Analysis
This is a "connection" page, showing publications RICHARD GIBBS has written about DNA Mutational Analysis.
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Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 09; 4(9).
Score: 0.160
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Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 08 04; 99(2):481-8.
Score: 0.114
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Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25.
Score: 0.077
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Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20. Acta Cardiol. 2020 Dec; 75(8):748-753.
Score: 0.035
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DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998; 11(2):121-6.
Score: 0.031
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Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 03 02; 543(7643):65-71.
Score: 0.030
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Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
Score: 0.028
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FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6.
Score: 0.026
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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9.
Score: 0.026
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Detection and genetic analysis of beta-thalassemia mutations by competitive oligopriming. Hum Mutat. 1995; 6(1):30-5.
Score: 0.025
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Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet. 2014 Dec; 46(12):1267-73.
Score: 0.025
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Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res. 2014 Nov; 24(11):1740-50.
Score: 0.025
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The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330.
Score: 0.025
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Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90.
Score: 0.025
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Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 Nov; 99(11):E2451-6.
Score: 0.025
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34.
Score: 0.025
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Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21.
Score: 0.025
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
Score: 0.024
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Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers. Clin Cancer Res. 2014 Jul 15; 20(14):3842-8.
Score: 0.024
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.024
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Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 Feb; 11(2):261-9.
Score: 0.022
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Deep sequencing of systematic combinatorial libraries reveals ?-lactamase sequence constraints at high resolution. J Mol Biol. 2012 Dec 07; 424(3-4):150-67.
Score: 0.022
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Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 2012 Jul 12; 120(2):440-8.
Score: 0.021
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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9.
Score: 0.020
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A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28; 467(7319):1061-73.
Score: 0.019
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The application of recombinant DNA technology for genetic probing in epidemiology. Annu Rev Public Health. 1989; 10:27-48.
Score: 0.017
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Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 Mar; 50(3):1336-43.
Score: 0.017
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.014
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Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes. Genomics. 2000 Jul 15; 67(2):109-27.
Score: 0.009
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Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Hum Mol Genet. 1999 Dec; 8(13):2425-36.
Score: 0.009
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Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutat Res. 1993 Aug; 288(2):237-48.
Score: 0.006
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A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 Jul; 13(3):594-600.
Score: 0.005