RICHARD GIBBS to Base Sequence
This is a "connection" page, showing publications RICHARD GIBBS has written about Base Sequence.
Connection Strength
2.277
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The Earth BioGenome Project 2020: Starting the clock. Proc Natl Acad Sci U S A. 2022 01 25; 119(4).
Score: 0.141
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Pressing ahead with human genome sequencing. Nat Genet. 1995 Oct; 11(2):121-5.
Score: 0.091
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Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14.
Score: 0.088
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Comparative primate genomics: emerging patterns of genome content and dynamics. Nat Rev Genet. 2014 May; 15(5):347-59.
Score: 0.082
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet. 2013 Nov 01; 22(21):4329-38.
Score: 0.077
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CGAP-align: a high performance DNA short read alignment tool. PLoS One. 2013; 8(4):e61033.
Score: 0.076
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Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012; 7(11):e47768.
Score: 0.074
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The genome of Apis mellifera: dialog between linkage mapping and sequence assembly. Genome Biol. 2007; 8(3):403.
Score: 0.049
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The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27; 440(7088):1194-8.
Score: 0.047
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Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 Sep; 1(3):e41.
Score: 0.045
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Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 05; 24(5):1062-1072.
Score: 0.035
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Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
Score: 0.035
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Comparing vertebrate whole-genome shotgun reads to the human genome. Genome Res. 2001 Nov; 11(11):1807-16.
Score: 0.035
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The comparative genomics and complex population history of Papio baboons. Sci Adv. 2019 01; 5(1):eaau6947.
Score: 0.029
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Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects. BMC Evol Biol. 2019 01 09; 19(1):11.
Score: 0.028
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Elimination of residual natural nucleotides from 3'-O-modified-dNTP syntheses by enzymatic mop-up. Biotechniques. 1998 Nov; 25(5):814-7.
Score: 0.028
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The genomic organization of Isopeptidase T-3 (ISOT-3), a new member of the ubiquitin specific protease family (UBP). Gene. 1998 Sep 14; 217(1-2):101-6.
Score: 0.028
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.027
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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: 0.027
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.
Score: 0.026
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 06; 101(1):149-156.
Score: 0.026
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Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 Sep; 173(9):2451-2455.
Score: 0.026
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Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 03 02; 543(7643):65-71.
Score: 0.025
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Deep Sequencing of Random Mutant Libraries Reveals the Active Site of the Narrow Specificity CphA Metallo-?-Lactamase is Fragile to Mutations. Sci Rep. 2016 09 12; 6:33195.
Score: 0.024
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Expression of human immunodeficiency virus type 1 reverse transcriptase in trans during virion release and after infection. J Virol. 1996 Jun; 70(6):3870-5.
Score: 0.024
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A "double adaptor" method for improved shotgun library construction. Anal Biochem. 1996 Apr 05; 236(1):107-13.
Score: 0.023
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A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. Genome Res. 1996 Apr; 6(4):314-26.
Score: 0.023
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Electrophoretically uniform fluorescent dyes for automated DNA sequencing. Science. 1996 Mar 08; 271(5254):1420-2.
Score: 0.023
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.
Score: 0.023
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Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. Cell Rep. 2016 Feb 02; 14(4):907-919.
Score: 0.023
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
Score: 0.023
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.023
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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2795-9.
Score: 0.022
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Analysis of human immunodeficiency virus type 1 integrase mutants. Virology. 1995 Aug 01; 211(1):332-5.
Score: 0.022
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130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995 Aug; 5(1):71-8.
Score: 0.022
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Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril. 2015 Aug; 104(2):286-91.
Score: 0.022
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Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Mamm Genome. 1995 May; 6(5):334-8.
Score: 0.022
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Working on the assembly line. Trends Biochem Sci. 1995 Apr; 20(4):162-3.
Score: 0.022
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DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22.
Score: 0.022
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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.022
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Detection and genetic analysis of beta-thalassemia mutations by competitive oligopriming. Hum Mutat. 1995; 6(1):30-5.
Score: 0.022
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Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28. DNA Seq. 1995; 5(4):219-23.
Score: 0.022
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.021
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Termination of DNA synthesis by novel 3'-modified-deoxyribonucleoside 5'-triphosphates. Nucleic Acids Res. 1994 Oct 11; 22(20):4259-67.
Score: 0.021
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Analysis of HIV type 1 reverse transcriptase expression in a human cell line. AIDS Res Hum Retroviruses. 1994 Sep; 10(9):1117-24.
Score: 0.021
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The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330.
Score: 0.021
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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: 0.021
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Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing. Anal Biochem. 1994 May 01; 218(2):300-8.
Score: 0.021
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Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A. 2014 Jan 14; 111(2):757-62.
Score: 0.020
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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. J Bone Miner Res. 2013 Nov; 28(11):2333-7.
Score: 0.020
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
Score: 0.020
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Rapid characterization of HIV-1 sequence diversity using denaturing gradient gel electrophoresis and direct automated DNA sequencing of PCR products. PCR Methods Appl. 1993 May; 2(4):293-300.
Score: 0.019
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Yunis-Var?n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013 May 02; 92(5):781-91.
Score: 0.019
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Large-scale sequencing library production: an adaptor-based strategy. Anal Biochem. 1993 Apr; 210(1):16-26.
Score: 0.019
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An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data. Genome Res. 2013 May; 23(5):833-42.
Score: 0.019
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A human dimorphism resulting from loss of an Alu. Genomics. 1992 Nov; 14(3):590-7.
Score: 0.019
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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: 0.018
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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 May; 83(5):457-461.
Score: 0.018
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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.
Score: 0.018
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Landscape of somatic retrotransposition in human cancers. Science. 2012 Aug 24; 337(6097):967-71.
Score: 0.018
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A simple protocol for the automation of DNA cycle sequencing reactions and polymerase chain reactions. DNA Seq. 1992; 3(1):17-23.
Score: 0.017
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Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.017
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Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts. Proc Natl Acad Sci U S A. 1991 Dec 15; 88(24):11236-40.
Score: 0.017
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The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA. Gene. 1991 Dec 15; 108(2):299-304.
Score: 0.017
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Pentanucleotide repeat length polymorphism at the human CD4 locus. Nucleic Acids Res. 1991 Sep 11; 19(17):4791.
Score: 0.017
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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 Sep; 155A(9):2071-7.
Score: 0.017
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Polymerase chain reaction techniques. Curr Opin Biotechnol. 1991 Feb; 2(1):69-75.
Score: 0.016
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Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990 Jun; 7(2):235-44.
Score: 0.016
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The use of primers from highly conserved pol regions to identify uncharacterized retroviruses by the polymerase chain reaction. J Virol Methods. 1990 Apr; 28(1):33-46.
Score: 0.015
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A full-length cDNA resource for the pea aphid, Acyrthosiphon pisum. Insect Mol Biol. 2010 Mar; 19 Suppl 2:23-31.
Score: 0.015
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Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res. 1989 Apr 11; 17(7):2437-48.
Score: 0.014
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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 Mar; 86(6):1919-23.
Score: 0.014
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Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res. 2008 Oct; 18(10):1571-81.
Score: 0.014
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28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res. 2007 Dec; 17(12):1797-808.
Score: 0.013
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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 2005 Aug; 15(8):1034-50.
Score: 0.011
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Molecular evidence of HIV-1 transmission in a criminal case. Proc Natl Acad Sci U S A. 2002 Oct 29; 99(22):14292-7.
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: 0.008
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An allylic/acyclic adenosine nucleoside triphosphate for termination of DNA synthesis by DNA template-dependent polymerases. Nucleic Acids Res. 1999 Mar 01; 27(5):1271-4.
Score: 0.007
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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 Sep; 6(9):1595-603.
Score: 0.006
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Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 Apr; 7(4):315-29.
Score: 0.006
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Genomic organization of the mouse double minute 2 gene. Gene. 1996 Oct 10; 175(1-2):209-13.
Score: 0.006
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Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet. 1996 Jul; 5(7):899-912.
Score: 0.006
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Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 May; 13(1):109-13.
Score: 0.006
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar; 12(3):288-97.
Score: 0.006
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Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 Apr; 3(4):684-5.
Score: 0.005
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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: 0.005
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Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1992 Nov; 1(8):645-6.
Score: 0.005
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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
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Polymerase chain reaction-based comprehensive procedure for the analysis of the mutation spectrum at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells. Environ Mol Mutagen. 1992; 19(4):267-73.
Score: 0.004
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Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 Nov; 49(5):951-60.
Score: 0.004
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Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci U S A. 1991 Sep 15; 88(18):8067-71.
Score: 0.004
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Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 Jul 15; 88(14):6157-61.
Score: 0.004
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PCR test for cystic fibrosis deletion. Nature. 1990 Jan 18; 343(6255):220.
Score: 0.004
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Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989; 102:185-94.
Score: 0.004
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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 Dec 09; 16(23):11141-56.
Score: 0.004
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Generation of cDNA probes directed by amino acid sequence: cloning of urate oxidase. Science. 1988 Mar 11; 239(4845):1288-91.
Score: 0.003
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The molecular basis of the sparse fur mouse mutation. Science. 1987 Jul 24; 237(4813):415-7.
Score: 0.003