Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection

(2012) Lee R. Machado et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations

(2012) Lora Boteva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes

(2012) Cushla McKinney et al.   HUMAN MOLECULAR GENETICS

Confirmation of association ofFCGR3Bbut notFCGR3Acopy number with susceptibility to autoantibody positive rheumatoid arthritis

(2012) James I. Robinson et al.   HUMAN MUTATION

Association of β-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin

(2012) Philip E. Stuart et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Low copy number of the FCGR3B gene and rheumatoid arthritis: a case-control study and meta-analysis

(2012) Scott W Graf et al.   ARTHRITIS RESEARCH & THERAPY

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

(2011) Catarina D. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Increased frequency of complement C4B deficiency in rheumatoid arthritis

(2011) William F. C. Rigby et al.   ARTHRITIS AND RHEUMATISM

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders

(2011) Danielle Carpenter et al.   BMC GENOMICS

Copy number variation of CCL3L1 influences asthma risk by modulating IL-10 expression

(2011) Haeyong Lee et al.   CLINICA CHIMICA ACTA

Copy number variation in CCL3L1 gene is associated with susceptibility to acute rejection in patients after liver transplantation

(2011) Hong Li et al.   CLINICAL TRANSPLANTATION

Influence of Variations in CCL3L1 and CCR5 on Tuberculosis in a Northwestern Colombian Population

(2011) Manju Mamtani et al.   JOURNAL OF INFECTIOUS DISEASES

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods

(2011) Peder Fode et al.   PLoS One

FCGR3B copy number variation is associated with systemic lupus erythematosus risk in Afro-Caribbeans

(2011) M. Molokhia et al.   RHEUMATOLOGY

Association of variation in Fc  receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples

(2010) C. McKinney et al.   ANNALS OF THE RHEUMATIC DISEASES

Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus

(2010) David L Morris et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of β-defensin and Toll-like receptor gene copy number variation in celiac disease

(2010) Nora Fernandez-Jimenez et al.   HUMAN IMMUNOLOGY

Copy number, linkage disequilibrium and disease association in the FCGR locus

(2010) H. A. Niederer et al.   HUMAN MOLECULAR GENETICS

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease

(2010) Marian C. Aldhous et al.   HUMAN MOLECULAR GENETICS

Assessment of complement C4 gene copy number using the paralog ratio test

(2010) Michelle M.A. Fernando et al.   HUMAN MUTATION

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Limitations of next-generation genome sequence assembly

(2010) Can Alkan et al.   NATURE METHODS

Genetic Variation of the Fc Gamma Receptor 3B Gene and Association with Rheumatoid Arthritis

(2010) Rute B. Marques et al.   PLoS One

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Association of Higher DEFB4 Genomic Copy Number With Crohn's Disease

(2009) Robert W Bentley et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Comparison of multiplex ligation-dependent probe amplification and real-time PCR accuracy for gene copy number quantification using the β-defensin locus

(2009) Andrea Perne et al.   BIOTECHNIQUES

Copy number variation of beta-defensins and relevance to disease

(2009) E.J. Hollox   CYTOGENETIC AND GENOME RESEARCH

Copy number variation and mosaicism

(2009) A.J. Notini et al.   CYTOGENETIC AND GENOME RESEARCH

Copy number variation of Fc gamma receptor genes and disease predisposition

(2009) M. Fanciulli et al.   CYTOGENETIC AND GENOME RESEARCH

Association of copy number variation in the FCGR3B gene with risk of autoimmune diseases

(2009) M Mamtani et al.   GENES AND IMMUNITY

Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus

(2009) Y L Wu et al.   GENES AND IMMUNITY

An integrated approach for measuring copy number variation at theFCGR3(CD16) locus

(2009) Edward J. Hollox et al.   HUMAN MUTATION

Copy number variation at theFCGRlocus includesFCGR3A, FCGR2CandFCGR3Bbut notFCGR2AandFCGR2B

(2009) Willemijn B. Breunis et al.   HUMAN MUTATION

Host CCL3L1 Gene Copy Number in Relation to HIV-1-Specific CD4+ and CD8+ T-Cell Responses and Viral Load in South African Women

(2009) Sharon Shalekoff et al.   JAIDS-JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES

Lower copy numbers of the chemokine CCL3L1 gene in patients with chronic hepatitis C

(2009) Frank Grünhage et al.   JOURNAL OF HEPATOLOGY

FCGR3B copy number variation is not associated with lupus nephritis in a Chinese population

(2009) J. Lv et al.   LUPUS

Lower Linkage Disequilibrium at CNVs is due to Both Recurrent Mutation and Transposing Duplications

(2009) D. R. Schrider et al.   MOLECULAR BIOLOGY AND EVOLUTION

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

(2009) Rafael de Cid et al.   NATURE GENETICS

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Reply to: “CCL3L1 and HIV/AIDS susceptibility” and “Experimental aspects of copy number variant assays at CCL3L1”

(2009) Weijing He et al.   NATURE MEDICINE

Experimental aspects of copy number variant assays at CCL3L1

(2009) Sarah F Field et al.   NATURE MEDICINE

CCL3L1 and HIV/AIDS susceptibility

(2009) Thomas J Urban et al.   NATURE MEDICINE

CCL3L1 and HIV/AIDS susceptibility

(2009) Tanmoy Bhattacharya et al.   NATURE MEDICINE

CCL3L Copy Number Variation and the Co-Evolution of Primate and Viral Genomes

(2009) German Gornalusse et al.   PLoS Genetics

Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays

(2008) Holly N. Cukier et al.   ANALYTICAL BIOCHEMISTRY

Contribution of Fc  receptor IIIA gene 158V/F polymorphism and copy number variation to the risk of ACPA-positive rheumatoid arthritis

(2008) M M Thabet et al.   ANNALS OF THE RHEUMATIC DISEASES

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

(2008) P. M. Kim et al.   GENOME RESEARCH

Multiplex Paralogue Ratio Tests for accurate measurement of multiallelic CNVs

(2008) Susan Walker et al.   GENOMICS

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes

(2008) Marco Groth et al.   HUMAN MUTATION

Copy number ofFCGR3B,which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

(2008) Lisa C. Willcocks et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A robust statistical method for case-control association testing with copy number variation

(2008) Chris Barnes et al.   NATURE GENETICS

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

(2008) Gregory M Cooper et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS

CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1–infected individuals

(2008) Sunil K Ahuja et al.   NATURE MEDICINE

Role of CCL3L1-CCR5 Genotypes in the Epidemic Spread of HIV-1 and Evaluation of Vaccine Efficacy

(2008) Hemant Kulkarni et al.   PLoS One

CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus

(2007) M Mamtani et al.   ANNALS OF THE RHEUMATIC DISEASES

Copy-number analysis goes more than skin deep

(2007) Steven A McCarroll   NATURE GENETICS