Published in Hum Genet on June 05, 2014
Genetic variation and the de novo assembly of human genomes. Nat Rev Genet (2015) 1.24
Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy. Proc Natl Acad Sci U S A (2015) 0.85
Genome-wide identification of copy number variations between two chicken lines that differ in genetic resistance to Marek's disease. BMC Genomics (2015) 0.80
A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B. PLoS One (2015) 0.80
Antimicrobial peptides in marine invertebrate health and disease. Philos Trans R Soc Lond B Biol Sci (2016) 0.80
An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses. Front Immunol (2015) 0.80
The Strange Lifestyle of Multipartite Viruses. PLoS Pathog (2016) 0.78
Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data. BMC Genomics (2015) 0.77
Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers. J Virol (2015) 0.77
FCGR2C Polymorphisms Associated with HIV-1 Vaccine Protection Are Linked to Altered Gene Expression of Fc-γ Receptors in Human B Cells. PLoS One (2016) 0.76
Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor? Eur J Hum Genet (2016) 0.75
Association of nsv823469 copy number loss with decreased risk of chronic obstructive pulmonary disease and pulmonary function in Chinese. Sci Rep (2017) 0.75
Lignin-degrading peroxidases in white-rot fungus Trametes hirsuta 072. Absolute expression quantification of full multigene family. PLoS One (2017) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Recent segmental duplications in the human genome. Science (2002) 21.30
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Fcgamma receptors as regulators of immune responses. Nat Rev Immunol (2008) 11.34
Influence of combinations of human major histocompatibility complex genes on the course of HIV-1 infection. Nat Med (1996) 10.49
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem (2011) 10.11
High association of an HL-A antigen, W27, with ankylosing spondylitis. N Engl J Med (1973) 9.90
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (2006) 9.30
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
Diet and the evolution of human amylase gene copy number variation. Nat Genet (2007) 8.64
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6. Science (1999) 7.86
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
Molecular signatures of natural selection. Annu Rev Genet (2005) 7.51
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
Differential natural killer cell-mediated inhibition of HIV-1 replication based on distinct KIR/HLA subtypes. J Exp Med (2007) 4.14
Structural basis for the EBA-175 erythrocyte invasion pathway of the malaria parasite Plasmodium falciparum. Cell (2005) 3.79
Heritability of type II (non-insulin-dependent) diabetes mellitus and abnormal glucose tolerance--a population-based twin study. Diabetologia (1999) 3.64
A burst of segmental duplications in the genome of the African great ape ancestor. Nature (2009) 3.63
Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutions. J Exp Med (1989) 3.36
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet (2003) 3.27
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
Identification of genetic loci associated with Helicobacter pylori serologic status. JAMA (2013) 3.15
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet (1999) 3.12
CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals. Nat Med (2008) 2.94
An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet (2005) 2.92
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res (2006) 2.64
Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A (1980) 2.61
Human epithelial beta-defensins 2 and 3 inhibit HIV-1 replication. AIDS (2003) 2.55
Heritability of malaria in Africa. PLoS Med (2005) 2.49
Human IgG Fc receptor II mediates antibody-dependent enhancement of dengue virus infection. J Immunol (1990) 2.47
Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization. Genome Res (2003) 2.41
Alpha-thalassaemia. Orphanet J Rare Dis (2010) 2.40
Haptoglobin genotypes are not associated with resistance to severe malaria in The Gambia. Trans R Soc Trop Med Hyg (2002) 2.39
Both heterozygous and homozygous alpha+ thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya. Blood (2005) 2.35
A haptoglobin-hemoglobin receptor conveys innate immunity to Trypanosoma brucei in humans. Science (2008) 2.33
FcgammaRI (CD64) contributes substantially to severity of arthritis, hypersensitivity responses, and protection from bacterial infection. Immunity (2002) 2.31
Erythrocyte-binding antigen 175 mediates invasion in Plasmodium falciparum utilizing sialic acid-dependent and -independent pathways. Proc Natl Acad Sci U S A (2003) 2.31
Polymorphism of human erythrocyte C3b/C4b receptor. Proc Natl Acad Sci U S A (1983) 2.30
Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis. Ann Rheum Dis (2007) 2.29
Human genetic susceptibility to infectious disease. Nat Rev Genet (2012) 2.25
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med (2008) 2.13
Duplication within the haptoglobin Hp2 gene. Nature (1984) 2.08
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. Nat Genet (2011) 1.97
Hemoglobin variants and disease manifestations in severe falciparum malaria. JAMA (2007) 1.95
Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol (2000) 1.95
Complement receptor 1 is the host erythrocyte receptor for Plasmodium falciparum PfRh4 invasion ligand. Proc Natl Acad Sci U S A (2010) 1.91
Molecular basis for rational megaprescribing in ultrarapid hydroxylators of debrisoquine. Lancet (1993) 1.87
The extensive polymorphism of KIR genes. Immunology (2010) 1.83
CCL3L1 and HIV/AIDS susceptibility. Nat Med (2009) 1.73
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications. Genome Res (2006) 1.69
The effect of gene conversion on the divergence between duplicated genes. Genetics (2004) 1.68
HLA/KIR restraint of HIV: surviving the fittest. Annu Rev Immunol (2011) 1.66
Genetics of HIV-1 infection: chemokine receptor CCR5 polymorphism and its consequences. Hum Mol Genet (1999) 1.65
CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus. Ann Rheum Dis (2007) 1.62
Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B. Hum Mutat (2009) 1.62
The importance of human FcgammaRI in mediating protection to malaria. PLoS Pathog (2007) 1.61
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood (2007) 1.60
Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. Proc Natl Acad Sci U S A (2006) 1.57
Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity. EMBO J (1986) 1.54
Alpha(+)-thalassemia protects African children from severe malaria. Blood (2004) 1.52
Fc gamma receptor III on human neutrophils. Allelic variants have functionally distinct capacities. J Clin Invest (1990) 1.51
Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex. Am J Hum Genet (2002) 1.47
African infants' CCL3 gene copies influence perinatal HIV transmission in the absence of maternal nevirapine. AIDS (2007) 1.46
Copy number variation of KIR genes influences HIV-1 control. PLoS Biol (2011) 1.44
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus. Hum Mutat (2009) 1.42
Receptor targeting of hemoglobin mediated by the haptoglobins: roles beyond heme scavenging. Blood (2009) 1.41
Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res (2008) 1.35
Differential enhancement of dengue virus immune complex infectivity mediated by signaling-competent and signaling-incompetent human Fcgamma RIA (CD64) or FcgammaRIIA (CD32). J Virol (2006) 1.34
Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins. Proc Natl Acad Sci U S A (2009) 1.33
Polymorphism of human complement component C4. Immunogenetics (1985) 1.28
Multiplex Paralogue Ratio Tests for accurate measurement of multiallelic CNVs. Genomics (2008) 1.28
CCL3L1 and CCL4L1: variable gene copy number in adolescents with and without human immunodeficiency virus type 1 (HIV-1) infection. Genes Immun (2007) 1.26
Imputation-based meta-analysis of severe malaria in three African populations. PLoS Genet (2013) 1.25
Ligation of Fc gamma receptor IIB inhibits antibody-dependent enhancement of dengue virus infection. Proc Natl Acad Sci U S A (2011) 1.24
Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev (2012) 1.23
CCL3L1 and HIV/AIDS susceptibility. Nat Med (2009) 1.22
Sequences of complementary DNAs that encode the NA1 and NA2 forms of Fc receptor III on human neutrophils. J Clin Invest (1989) 1.22
Characterization of polymorphic forms of Fc receptor III on human neutrophils. J Clin Invest (1989) 1.21
Seasonal childhood anaemia in West Africa is associated with the haptoglobin 2-2 genotype. PLoS Med (2006) 1.21
A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia. Hum Mutat (2011) 1.21
Phenotypic variation in IgG receptors by nonclassical FCGR2C alleles. J Immunol (2011) 1.16
Functional characteristics of the high affinity IgG receptor, FcγRI. J Immunol (2011) 1.15
Expression of functional CD32 molecules on human NK cells is determined by an allelic polymorphism of the FcgammaRIIC gene. Blood (1998) 1.15
Structure of the human CR1 gene. Molecular basis of the structural and quantitative polymorphisms and identification of a new CR1-like allele. J Exp Med (1989) 1.15
Copy number variation in the human genome and its implication in autoimmunity. Clin Exp Immunol (2009) 1.14
Low-affinity Fcgamma receptors, autoimmunity and infection. Expert Rev Mol Med (2009) 1.14
Exploring the role of copy number variants in human adaptation. Trends Genet (2012) 1.14
Iron and infection: effects of host iron status and the iron-regulatory genes haptoglobin and NRAMP1 (SLC11A1) on host-pathogen interactions in tuberculosis and HIV. Clin Sci (Lond) (2006) 1.13
Genetic mechanisms for duplication and multiduplication of the human CYP2D6 gene and methods for detection of duplicated CYP2D6 genes. Gene (1999) 1.11
CR1 Knops blood group alleles are not associated with severe malaria in the Gambia. Genes Immun (2003) 1.10
Polymorphisms in the human haptoglobin gene cluster: chromosomes with multiple haptoglobin-related (Hpr) genes. Proc Natl Acad Sci U S A (1986) 1.08
Identification of copy number variation hotspots in human populations. Am J Hum Genet (2010) 1.08
Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin. PLoS One (2009) 1.06