Published in Nat Genet on February 27, 2005
Global variation in copy number in the human genome. Nature (2006) 57.50
Population genomics of human gene expression. Nat Genet (2007) 24.49
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. PLoS Genet (2009) 4.71
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med (2009) 3.70
The NeST long ncRNA controls microbial susceptibility and epigenetic activation of the interferon-γ locus. Cell (2013) 3.40
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nat Genet (2008) 2.31
Combination cancer immunotherapy and new immunomodulatory targets. Nat Rev Drug Discov (2015) 2.25
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. Nat Genet (2012) 2.17
A concise review of pulmonary sarcoidosis. Am J Respir Crit Care Med (2010) 1.98
Autoimmune disease classification by inverse association with SNP alleles. PLoS Genet (2009) 1.96
Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex. Genome Res (2011) 1.80
Major histocompatibility complex genomics and human disease. Annu Rev Genomics Hum Genet (2013) 1.75
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet (2010) 1.72
Childhood sarcoidosis: A rare but fascinating disorder. Pediatr Rheumatol Online J (2008) 1.63
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes. PLoS Genet (2015) 1.52
Assessment of the genetic basis of rosacea by genome-wide association study. J Invest Dermatol (2015) 1.48
BTNL2, a butyrophilin-like molecule that functions to inhibit T cell activation. J Immunol (2006) 1.45
Epithelia Use Butyrophilin-like Molecules to Shape Organ-Specific γδ T Cell Compartments. Cell (2016) 1.43
Yin-Yang of costimulation: crucial controls of immune tolerance and function. Immunol Rev (2009) 1.39
Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. Genetics (2006) 1.37
A short isoform of NOD2/CARD15, NOD2-S, is an endogenous inhibitor of NOD2/receptor-interacting protein kinase 2-induced signaling pathways. Proc Natl Acad Sci U S A (2006) 1.37
The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites. Am J Hum Genet (2005) 1.31
Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. Am J Hum Genet (2005) 1.29
New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study. PLoS One (2010) 1.27
Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. PLoS One (2012) 1.23
Regulation of major histocompatibility complex class II gene expression, genetic variation and disease. Genes Immun (2009) 1.21
Population-genetic nature of copy number variations in the human genome. Hum Mol Genet (2009) 1.12
Phylogenetically widespread alternative splicing at unusual GYNGYN donors. Genome Biol (2006) 1.09
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. J Invest Dermatol (2011) 1.08
Toll-like receptor (TLR) 4 polymorphisms are associated with a chronic course of sarcoidosis. Clin Exp Immunol (2006) 1.06
Peripheral blood gene expression as a novel genomic biomarker in complicated sarcoidosis. PLoS One (2012) 1.05
Idiopathic giant cell myocarditis and cardiac sarcoidosis. Heart Fail Rev (2013) 1.05
Cardiac involvement in sarcoidosis: evolving concepts in diagnosis and treatment. Semin Respir Crit Care Med (2014) 1.04
A test of current models for the mechanism of milk-lipid droplet secretion. Traffic (2013) 1.03
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1. J Med Genet (2009) 1.02
Butyrophilin-like 1 encodes an enterocyte protein that selectively regulates functional interactions with T lymphocytes. Proc Natl Acad Sci U S A (2011) 1.01
Sarcoidosis and molecular mimicry--important etiopathogenetic aspects: current state and future directions. Wien Klin Wochenschr (2012) 1.01
The PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase: implications for the function of BTN1A1 in the mammary gland and other tissues. J Biol Chem (2009) 0.97
Coinhibitory Pathways in the B7-CD28 Ligand-Receptor Family. Immunity (2016) 0.96
A genome-wide admixture scan for ancestry-linked genes predisposing to sarcoidosis in African-Americans. Genes Immun (2010) 0.94
Granuloma formation in pulmonary sarcoidosis. Front Immunol (2013) 0.93
BTNL2 gene variant and sarcoidosis. Thorax (2006) 0.93
Exploring the potential relevance of human-specific genes to complex disease. Hum Genomics (2011) 0.93
Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression. BMC Genomics (2007) 0.93
Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk. Am J Respir Crit Care Med (2015) 0.92
Inhibitory costimulation and anti-tumor immunity. Semin Cancer Biol (2007) 0.90
Caspase recruitment domain-containing protein 8 (CARD8) negatively regulates NOD2-mediated signaling. J Biol Chem (2010) 0.90
Genetic epidemiology of primary sclerosing cholangitis. World J Gastroenterol (2007) 0.90
Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility. Cancer Epidemiol Biomarkers Prev (2013) 0.89
A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. Am J Hum Genet (2012) 0.88
Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving. BMC Evol Biol (2011) 0.88
Overexpression of IL-17RC associated with ocular sarcoidosis. J Transl Med (2014) 0.88
On the Wegener granulomatosis associated region on chromosome 6p21.3. BMC Med Genet (2006) 0.88
Constant splice-isoform ratios in human lymphoblastoid cells support the concept of a splico-stat. Genetics (2011) 0.88
Gene expression profiles in granuloma tissue reveal novel diagnostic markers in sarcoidosis. Exp Mol Pathol (2014) 0.87
Sarcoidosis HLA class II genotyping distinguishes differences of clinical phenotype across ethnic groups. Hum Mol Genet (2010) 0.87
Association of variants in BAT1-LTA-TNF-BTNL2 genes within 6p21.3 region show graded risk to leprosy in unrelated cohorts of Indian population. Hum Genet (2011) 0.86
[Skeletal sarcoidosis]. Radiologe (2016) 0.85
Blockade of the programmed death-1 pathway restores sarcoidosis CD4(+) T-cell proliferative capacity. Am J Respir Crit Care Med (2014) 0.85
BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children. Eur J Pediatr (2009) 0.85
Gatekeepers of intestinal inflammation. Inflamm Res (2010) 0.85
Genetic polymorphisms and susceptibility to lung disease. J Negat Results Biomed (2006) 0.84
Genetic variants in mannose receptor gene (MRC1) confer susceptibility to increased risk of sarcoidosis. BMC Med Genet (2010) 0.84
Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation. BMC Proc (2009) 0.83
The clinical and immunologic features of pulmonary fibrosis in sarcoidosis. Transl Res (2012) 0.83
Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study. Hum Genet (2013) 0.83
Sequence of a complete chicken BG haplotype shows dynamic expansion and contraction of two gene lineages with particular expression patterns. PLoS Genet (2014) 0.83
Psoriasis and cardiometabolic traits: modest association but distinct genetic architectures. J Invest Dermatol (2015) 0.83
Genetics of sarcoidosis: candidate genes and genome scans. Proc Am Thorac Soc (2007) 0.82
Murine Butyrophilin-Like 1 and Btnl6 Form Heteromeric Complexes in Small Intestinal Epithelial Cells and Promote Proliferation of Local T Lymphocytes. Front Immunol (2016) 0.81
Novel Immune Check-Point Regulators in Tolerance Maintenance. Front Immunol (2015) 0.81
Standard and etiology-directed evidence-based therapies in myocarditis: state of the art and future perspectives. Heart Fail Rev (2013) 0.80
Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis. J Invest Dermatol (2009) 0.80
(Introduction: MHC/KIR and governance of specificity). Immunogenetics (2017) 0.80
Functional analysis of dendritic cell-T cell interaction in sarcoidosis. Clin Exp Immunol (2009) 0.79
Immunogenomics: molecular hide and seek. Hum Genomics (2006) 0.79
BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients. Meta Gene (2014) 0.79
Reproductive and hormonal factors in relation to incidence of sarcoidosis in US Black women: The Black Women's Health Study. Am J Epidemiol (2012) 0.79
It never rains but it pours: potential role of butyrophilins in inhibiting anti-tumor immune responses. Cell Cycle (2011) 0.79
Genetic predisposition to respiratory diseases: infiltrative lung diseases. Respiration (2007) 0.79
Diversity of extended HLA-DRB1 haplotypes in the Finnish population. PLoS One (2013) 0.78
Scianna: the lucky 13th blood group system. Immunohematology (2011) 0.77
Knowledge-based analysis of genetic associations of rheumatoid arthritis to inform studies searching for pleiotropic genes: a literature review and network analysis. Arthritis Res Ther (2015) 0.77
Abnormalities in iNKT cells are associated with impaired ability of monocytes to produce IL-10 and suppress T-cell proliferation in sarcoidosis. Eur J Immunol (2014) 0.77
Association of a polymorphism of BTN2A1 with chronic kidney disease in individuals with or without hypertension or diabetes mellitus. Exp Ther Med (2011) 0.77
Three microsatellites from the T1DGC MHC data set show highly significant association with type 1 diabetes, independent of the HLA-DRB1, -DQA1 and -DQB1 genes. Diabetes Obes Metab (2009) 0.76
Association of a polymorphism of BTN2A1 with dyslipidemia in East Asian populations. Exp Ther Med (2011) 0.76
Granuloma genes in sarcoidosis: what is new? Curr Opin Pulm Med (2015) 0.76
An in silico modeling approach to understanding the dynamics of sarcoidosis. PLoS One (2011) 0.76
BTNL2 gene polymorphism and sarcoidosis susceptibility: a meta-analysis. PLoS One (2015) 0.76
SNP Variants in Major Histocompatibility Complex Are Associated with Sarcoidosis Susceptibility-A Joint Analysis in Four European Populations. Front Immunol (2017) 0.75
Collective Genetic Interaction Effects and the Role of Antigen-Presenting Cells in Autoimmune Diseases. PLoS One (2017) 0.75
The BTNL2 G16071A gene polymorphism increases granulomatous disease susceptibility: A meta-analysis including FPRP test of 8710 participants. Medicine (Baltimore) (2016) 0.75
The ontogeny of Butyrophilin-like (Btnl) 1 and Btnl6 in murine small intestine. Sci Rep (2016) 0.75
Altered expression of Butyrophilin (BTN) and BTN-like (BTNL) genes in intestinal inflammation and colon cancer. Immun Inflamm Dis (2016) 0.75
The potential of the immunological markers of sarcoidosis in exhaled breath and peripheral blood as future diagnostic and monitoring techniques. Inflammopharmacology (2011) 0.75
Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort. Orphanet J Rare Dis (2016) 0.75
The association between osteopontin gene polymorphisms, osteopontin expression and sarcoidosis. PLoS One (2017) 0.75
Genetic testing in diffuse parenchymal lung disease. Orphanet J Rare Dis (2012) 0.75
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Signatures of mutational processes in human cancer. Nature (2013) 21.63
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
ROCR: visualizing classifier performance in R. Bioinformatics (2005) 19.60
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet (2006) 15.14
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Improved scoring of functional groups from gene expression data by decorrelating GO graph structure. Bioinformatics (2006) 11.33
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol (2005) 10.16
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Cell (2008) 8.43
Mucosal flora in inflammatory bowel disease. Gastroenterology (2002) 8.42
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
A physical, genetic and functional sequence assembly of the barley genome. Nature (2012) 7.25
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97
Adalimumab for maintenance of clinical response and remission in patients with Crohn's disease: the CHARM trial. Gastroenterology (2006) 6.88
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
Acute exacerbations of idiopathic pulmonary fibrosis. Am J Respir Crit Care Med (2007) 6.71
Integrating biological data--the Distributed Annotation System. BMC Bioinformatics (2008) 6.56
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Adalimumab for induction of clinical remission in moderately to severely active ulcerative colitis: results of a randomised controlled trial. Gut (2011) 6.08
BiQ Analyzer: visualization and quality control for DNA methylation data from bisulfite sequencing. Bioinformatics (2005) 5.95
Microbial exposure during early life has persistent effects on natural killer T cell function. Science (2012) 5.90
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet (2011) 5.58
Natalizumab induction and maintenance therapy for Crohn's disease. N Engl J Med (2005) 5.36
Computing topological parameters of biological networks. Bioinformatics (2007) 5.36
Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation (2008) 5.20
New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet (2009) 5.12
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet (2008) 5.05
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
PSICQUIC and PSISCORE: accessing and scoring molecular interactions. Nat Methods (2011) 5.01
A new measure for functional similarity of gene products based on Gene Ontology. BMC Bioinformatics (2006) 4.82
The NLR gene family: a standard nomenclature. Immunity (2008) 4.77
PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Community Genet (2006) 4.72
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease. Nat Genet (2009) 4.63
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Ustekinumab induction and maintenance therapy in refractory Crohn's disease. N Engl J Med (2012) 4.41
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Comparison of scheduled and episodic treatment strategies of infliximab in Crohn's disease. Gastroenterology (2004) 4.26
Infliximab therapy in patients with chronic sarcoidosis and pulmonary involvement. Am J Respir Crit Care Med (2006) 4.20
The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology (2002) 4.20
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Certolizumab pegol for the treatment of Crohn's disease. N Engl J Med (2007) 4.07
Association of FOXO3A variation with human longevity confirmed in German centenarians. Proc Natl Acad Sci U S A (2009) 4.02
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet (2008) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet (2008) 3.95
The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci U S A (2007) 3.93
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med (2016) 3.88
Nod2 is essential for temporal development of intestinal microbial communities. Gut (2011) 3.69
Investigation of the fine structure of European populations with applications to disease association studies. Eur J Hum Genet (2008) 3.65
The clock gene Per2 influences the glutamatergic system and modulates alcohol consumption. Nat Med (2004) 3.63
Diversity and complexity of HIV-1 drug resistance: a bioinformatics approach to predicting phenotype from genotype. Proc Natl Acad Sci U S A (2002) 3.46