RICHARD GIBBS to Exons
This is a "connection" page, showing publications RICHARD GIBBS has written about Exons.
Connection Strength
2.394
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.524
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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 Jul 25; 12(7):R68.
Score: 0.308
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Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010; 11(6):R62.
Score: 0.286
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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: 0.116
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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: 0.106
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Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 04; 485(7397):242-5.
Score: 0.081
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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: 0.071
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Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children. Am J Clin Nutr. 2010 Jan; 91(1):191-9.
Score: 0.068
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Common and rare variants of DAOA in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 05; 150B(7):960-6.
Score: 0.068
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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: 0.052
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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 08 09; 224(4).
Score: 0.044
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641.
Score: 0.036
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347.
Score: 0.036
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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: 0.032
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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: 0.031
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Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 01 03; 553(7686):77-81.
Score: 0.030
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Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 1997 Mar; 7(3):268-80.
Score: 0.028
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 11 24; 17(1):237.
Score: 0.028
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Improved ligation-anchored PCR strategy for identification of 5' ends of transcripts. Biotechniques. 1996 Jul; 21(1):34-6, 38.
Score: 0.027
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Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72.
Score: 0.027
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ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. BMC Bioinformatics. 2016 Apr 27; 17:188.
Score: 0.027
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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: 0.026
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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: 0.026
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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: 0.025
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Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014 Nov 27; 371(22):2072-82.
Score: 0.024
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Comparative validation of the D. melanogaster modENCODE transcriptome annotation. Genome Res. 2014 Jul; 24(7):1209-23.
Score: 0.024
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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: 0.021
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Gene structure in the sea urchin Strongylocentrotus purpuratus based on transcriptome analysis. Genome Res. 2012 Oct; 22(10):2079-87.
Score: 0.021
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Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.020
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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: 0.020
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Pentanucleotide repeat length polymorphism at the human CD4 locus. Nucleic Acids Res. 1991 Sep 11; 19(17):4791.
Score: 0.019
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Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science. 2011 Aug 26; 333(6046):1154-7.
Score: 0.019
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Complete Khoisan and Bantu genomes from southern Africa. Nature. 2010 Feb 18; 463(7283):943-7.
Score: 0.017
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Sequencing the full-length of the phosphatase and tensin homolog (PTEN) gene in hepatocellular carcinoma (HCC) using the 454 GS20 and Illumina GA DNA sequencing platforms. World J Surg. 2009 Apr; 33(4):647-52.
Score: 0.016
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Deletion screening at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells using the polymerase chain reaction. Teratog Carcinog Mutagen. 1989; 9(3):177-87.
Score: 0.016
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Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6.
Score: 0.016
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Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection. J Infect Dis. 2005 Nov 15; 192(10):1741-8.
Score: 0.013
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Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome. Genome Res. 2004 Apr; 14(4):580-90.
Score: 0.012
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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: 0.007
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Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Res. 1997 Jun; 7(6):642-8.
Score: 0.007
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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: 0.007
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Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 Apr; 3(4):684-5.
Score: 0.006
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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: 0.005