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Patrick Gaffney to Polymorphism, Single Nucleotide

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This is a "connection" page, showing publications Patrick Gaffney has written about Polymorphism, Single Nucleotide.
Patrick Gaffney
Connection Strength
4.192
Polymorphism, Single Nucleotide
  1. Infinium assay for large-scale SNP genotyping applications. J Vis Exp. 2013 Nov 19; (81):e50683.
    View in: PubMed
    Score: 0.371
  2. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus. Nat Genet. 2011 Mar; 43(3):253-8.
    View in: PubMed
    Score: 0.307
  3. Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans. Hum Mol Genet. 2018 11 01; 27(21):3813-3824.
    View in: PubMed
    Score: 0.131
  4. A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases. Nat Genet. 2017 Mar; 49(3):433-437.
    View in: PubMed
    Score: 0.116
  5. Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. Nat Genet. 2016 08; 48(8):940-946.
    View in: PubMed
    Score: 0.111
  6. TALEN-mediated enhancer knockout influences TNFAIP3 gene expression and mimics a molecular phenotype associated with systemic lupus erythematosus. Genes Immun. 2016 04; 17(3):165-70.
    View in: PubMed
    Score: 0.108
  7. Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus. Clin Immunol. 2015 Dec; 161(2):157-62.
    View in: PubMed
    Score: 0.105
  8. Disease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseases. Arthritis Rheumatol. 2015 Jan; 67(1):1-10.
    View in: PubMed
    Score: 0.100
  9. GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. Genes Immun. 2014 Sep; 15(6):347-54.
    View in: PubMed
    Score: 0.096
  10. Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription. Am J Hum Genet. 2014 Apr 03; 94(4):586-98.
    View in: PubMed
    Score: 0.095
  11. An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression. PLoS Genet. 2013; 9(9):e1003750.
    View in: PubMed
    Score: 0.092
  12. PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes. PLoS One. 2013; 8(8):e69404.
    View in: PubMed
    Score: 0.091
  13. Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus. Arthritis Rheum. 2012 Nov; 64(11):3695-705.
    View in: PubMed
    Score: 0.086
  14. Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries. Ann Rheum Dis. 2012 Nov; 71(11):1809-14.
    View in: PubMed
    Score: 0.083
  15. A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus. Genes Immun. 2012 Jul; 13(5):380-7.
    View in: PubMed
    Score: 0.083
  16. Evaluation of TRAF6 in a large multiancestral lupus cohort. Arthritis Rheum. 2012 Jun; 64(6):1960-9.
    View in: PubMed
    Score: 0.082
  17. Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus. Ann Rheum Dis. 2012 May; 71(5):694-9.
    View in: PubMed
    Score: 0.081
  18. Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus. Arthritis Rheum. 2011 Jul; 63(7):2049-57.
    View in: PubMed
    Score: 0.079
  19. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet. 2011 May; 7(5):e1002079.
    View in: PubMed
    Score: 0.078
  20. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. PLoS Genet. 2009 Oct; 5(10):e1000696.
    View in: PubMed
    Score: 0.070
  21. A polymorphism within IL21R confers risk for systemic lupus erythematosus. Arthritis Rheum. 2009 Aug; 60(8):2402-7.
    View in: PubMed
    Score: 0.069
  22. Identification of new SLE-associated genes with a two-step Bayesian study design. Genes Immun. 2009 Jul; 10(5):446-56.
    View in: PubMed
    Score: 0.068
  23. Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations. Genes Immun. 2009 Jul; 10(5):470-7.
    View in: PubMed
    Score: 0.068
  24. Genetic associations of LYN with systemic lupus erythematosus. Genes Immun. 2009 Jul; 10(5):397-403.
    View in: PubMed
    Score: 0.068
  25. Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population. Genes Immun. 2009 Jul; 10(5):531-8.
    View in: PubMed
    Score: 0.067
  26. Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci U S A. 2009 Apr 14; 106(15):6256-61.
    View in: PubMed
    Score: 0.067
  27. Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet. 2009 Mar 15; 18(6):1171-80.
    View in: PubMed
    Score: 0.066
  28. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet. 2008 Sep; 40(9):1059-61.
    View in: PubMed
    Score: 0.065
  29. A novel polymorphism of the human CD40 receptor with enhanced function. Blood. 2008 Sep 01; 112(5):1863-71.
    View in: PubMed
    Score: 0.064
  30. Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12. Am J Hum Genet. 2006 May; 78(5):747-758.
    View in: PubMed
    Score: 0.055
  31. Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells. Nat Commun. 2022 07 27; 13(1):4287.
    View in: PubMed
    Score: 0.042
  32. CD4+?T cells from children with active juvenile idiopathic arthritis show altered chromatin features associated with transcriptional abnormalities. Sci Rep. 2021 02 17; 11(1):4011.
    View in: PubMed
    Score: 0.038
  33. Chromatin Looping Links Target Genes with Genetic Risk Loci for Dermatological Traits. J Invest Dermatol. 2021 08; 141(8):1975-1984.
    View in: PubMed
    Score: 0.038
  34. Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus. Genome Biol. 2020 11 19; 21(1):281.
    View in: PubMed
    Score: 0.038
  35. Latent autoimmunity across disease-specific boundaries in at-risk first-degree relatives of SLE and RA patients. EBioMedicine. 2019 Apr; 42:76-85.
    View in: PubMed
    Score: 0.034
  36. Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block. Arthritis Rheumatol. 2017 11; 69(11):2170-2174.
    View in: PubMed
    Score: 0.030
  37. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat Commun. 2017 07 17; 8:16021.
    View in: PubMed
    Score: 0.030
  38. Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis. PLoS One. 2017; 12(2):e0171193.
    View in: PubMed
    Score: 0.029
  39. Combined role of vitamin D status and CYP24A1 in the transition to systemic lupus erythematosus. Ann Rheum Dis. 2017 Jan; 76(1):153-158.
    View in: PubMed
    Score: 0.028
  40. Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. Arthritis Rheumatol. 2016 05; 68(5):1197-1209.
    View in: PubMed
    Score: 0.027
  41. Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. Arthritis Rheumatol. 2016 Jan; 68(1):174-83.
    View in: PubMed
    Score: 0.027
  42. Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study. Genes Immun. 2015 Mar; 16(2):142-50.
    View in: PubMed
    Score: 0.025
  43. The effect of inversion at 8p23 on BLK association with lupus in Caucasian population. PLoS One. 2014; 9(12):e115614.
    View in: PubMed
    Score: 0.025
  44. The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share. Hum Mol Genet. 2015 Jan 15; 24(2):582-96.
    View in: PubMed
    Score: 0.025
  45. Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA. Ann Rheum Dis. 2016 Jan; 75(1):242-52.
    View in: PubMed
    Score: 0.025
  46. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. J Am Soc Nephrol. 2014 Dec; 25(12):2859-70.
    View in: PubMed
    Score: 0.024
  47. Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. Hum Mol Genet. 2014 Mar 15; 23(6):1656-68.
    View in: PubMed
    Score: 0.023
  48. Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression. PLoS Genet. 2013; 9(10):e1003870.
    View in: PubMed
    Score: 0.023
  49. ABIN1 dysfunction as a genetic basis for lupus nephritis. J Am Soc Nephrol. 2013 Nov; 24(11):1743-54.
    View in: PubMed
    Score: 0.023
  50. Protein kinase cd deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum. 2013 Aug; 65(8):2161-71.
    View in: PubMed
    Score: 0.023
  51. Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4. PLoS Genet. 2013; 9(7):e1003554.
    View in: PubMed
    Score: 0.023
  52. Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry. J Rheumatol. 2013 Jun; 40(6):842-9.
    View in: PubMed
    Score: 0.022
  53. Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. Nat Genet. 2013 Jun; 45(6):664-9.
    View in: PubMed
    Score: 0.022
  54. MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus. PLoS Genet. 2013; 9(2):e1003336.
    View in: PubMed
    Score: 0.022
  55. Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production. PLoS Genet. 2013; 9(2):e1003222.
    View in: PubMed
    Score: 0.022
  56. Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans. Am J Hum Genet. 2012 Nov 02; 91(5):778-93.
    View in: PubMed
    Score: 0.022
  57. CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. Nat Genet. 2012 Nov; 44(11):1227-30.
    View in: PubMed
    Score: 0.021
  58. Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis. 2013 Mar; 72(3):437-44.
    View in: PubMed
    Score: 0.021
  59. Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet. 2012 Apr 06; 90(4):648-60.
    View in: PubMed
    Score: 0.021
  60. Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus. Arthritis Rheum. 2012 Feb; 64(2):485-92.
    View in: PubMed
    Score: 0.020
  61. Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase. Proc Natl Acad Sci U S A. 2012 Jan 10; 109(2):E59-67.
    View in: PubMed
    Score: 0.020
  62. Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis. Genes Immun. 2012 Apr; 13(3):232-8.
    View in: PubMed
    Score: 0.020
  63. A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. PLoS Genet. 2011 Dec; 7(12):e1002406.
    View in: PubMed
    Score: 0.020
  64. Sex chromosome aneuploidies among men with systemic lupus erythematosus. J Autoimmun. 2012 May; 38(2-3):J129-34.
    View in: PubMed
    Score: 0.020
  65. IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis. 2012 Mar; 71(3):463-8.
    View in: PubMed
    Score: 0.020
  66. Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study. Arthritis Rheum. 2011 Nov; 63(11):3493-501.
    View in: PubMed
    Score: 0.020
  67. Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK. Ann Rheum Dis. 2012 Jan; 71(1):136-42.
    View in: PubMed
    Score: 0.020
  68. Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. Ann Rheum Dis. 2011 Oct; 70(10):1752-7.
    View in: PubMed
    Score: 0.020
  69. Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21. Arthritis Rheum. 2011 Jun; 63(6):1689-97.
    View in: PubMed
    Score: 0.020
  70. The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus. Genes Immun. 2011 Dec; 12(8):667-71.
    View in: PubMed
    Score: 0.020
  71. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet. 2011 Mar; 7(3):e1001323.
    View in: PubMed
    Score: 0.019
  72. Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. PLoS Genet. 2011 Feb; 7(2):e1001311.
    View in: PubMed
    Score: 0.019
  73. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun. 2011 Jun; 12(4):270-9.
    View in: PubMed
    Score: 0.019
  74. Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study. Am J Hum Genet. 2011 Jan 07; 88(1):83-91.
    View in: PubMed
    Score: 0.019
  75. The role of genetic variation near interferon-kappa in systemic lupus erythematosus. J Biomed Biotechnol. 2010; 2010.
    View in: PubMed
    Score: 0.018
  76. Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. Genes Immun. 2009 Jun; 10(4):350-5.
    View in: PubMed
    Score: 0.017
  77. Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. Arthritis Rheum. 2009 Apr; 60(4):1076-84.
    View in: PubMed
    Score: 0.017
  78. High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups. Arthritis Rheum. 2009 Apr; 60(4):1085-95.
    View in: PubMed
    Score: 0.017
  79. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet. 2008 Feb; 40(2):204-10.
    View in: PubMed
    Score: 0.015
  80. Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet. 2008 Jan; 40(1):83-9.
    View in: PubMed
    Score: 0.015
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