Patrick M. Gaffney

Recent advances in the genetics of systemic lupus erythematosus.

Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus.

Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus.

Pearl, a novel family of putative transposable elements in bivalve mollusks.

Genetic variability assessed by microsatellites in a breeding program of Pacific white shrimp (Litopenaeus vannamei).

Identification of a gene expression signature associated with recurrent disease in squamous cell carcinoma of the head and neck.

The use of microarrays to study autoimmunity.

Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.

Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus.

Complete mitochondrial DNA sequence of the eastern oyster Crassostrea virginica.

c-kit expression in adenoid cystic carcinoma does not have an impact on local or distant tumor recurrence.

Gene expression profiling in human autoimmunity.

Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12.

Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma.

Periostin promotes invasion and anchorage-independent growth in the metastatic process of head and neck cancer.

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.

Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus.

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

Endogenous heparan sulfate and heparin modulate bone morphogenetic protein-4 signaling and activity.

A novel polymorphism of the human CD40 receptor with enhanced function.

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).

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.

Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus.

Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.

High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups.

A polymorphism within IL21R confers risk for systemic lupus erythematosus.

European population substructure is associated with mucocutaneous manifestations and autoantibody production in systemic lupus erythematosus.

High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.

Analysis of maternal-offspring HLA compatibility, parent-of-origin effects, and noninherited maternal antigen effects for HLA-DRB1 in systemic lupus erythematosus.

Development of type I genetic markers from expressed sequence tags in highly polymorphic species.

Defining a new molecular basis of systemic lupus erythematosus through transcriptional profiling.

Exon 6 variants carried on systemic lupus erythematosus (SLE) risk haplotypes modulate IRF5 function.

The role of genetic variation near interferon-kappa in systemic lupus erythematosus.

Fragmentation of the large subunit ribosomal RNA gene in oyster mitochondrial genomes.

Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus.

Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.

Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21.

Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus.

Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups.

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.

Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.

Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.

Evidence for gene-gene epistatic interactions among susceptibility loci for systemic lupus erythematosus.

Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.

The genomics of autoimmune disease in the era of genome-wide association studies and beyond.

IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus.

Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.

Sex chromosome aneuploidies among men with systemic lupus erythematosus.

A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.

Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.

Evaluation of TRAF6 in a large multi-ancestral lupus cohort.

Contributions of mass spectrometry-based proteomics to defining cellular mechanisms and diagnostic markers for systemic lupus erythematosus.

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.

Effects of IRF5 lupus risk haplotype on pathways predicted to influence B cell functions.

Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.

Two independent functional risk haplotypes in TNIP1 are associated with systemic lupus erythematosus.

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Impact of genetic ancestry and socio-demographic status on the clinical expression of systemic lupus erythematosus in Amerindian-European populations.

Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups.

WITHDRAWN: A female autoimmunity gene exists: DDX3X.

The oyster genome reveals stress adaptation and complexity of shell formation.

CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.

Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans.

Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.

MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus.

Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry.

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Encore: Genetic Association Interaction Network centrality pipeline and application to SLE exome data.

Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4.

PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes.

ABIN1 Dysfunction as a Genetic Basis for Lupus Nephritis.

An enhancer element harboring variants associated with systemic lupus erythematosus engages the TNFAIP3 promoter to influence A20 expression.

Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression.

Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.