Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

Complex and multi-allelic copy number variation in human disease

(2015) Christina L. Usher et al.   Briefings in Functional Genomics

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

(2015) Lars G Fritsche et al.   NATURE GENETICS

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)

(2015) Felix Grassmann et al.   NEUROMOLECULAR MEDICINE

What Does Genetics Tell Us About Age-Related Macular Degeneration?

(2015) Felix Grassmann et al.   Annual Review of Vision Science

Age-Related Macular Degeneration: Genetics and Biology Coming Together

(2014) Lars G. Fritsche et al.   Annual Review of Genomics and Human Genetics

Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication

(2014) Stuart Cantsilieris et al.   BMC GENOMICS

A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness

(2014) Jared O'Connell et al.   PLoS Genetics

Low C4 gene copy numbers are associated with superior graft survival in patients transplanted with a deceased donor kidney

(2013) Jakob T. Bay et al.   KIDNEY INTERNATIONAL

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

(2013) Johanna M Seddon et al.   NATURE GENETICS

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

(2013) Xiaowei Zhan et al.   NATURE GENETICS

Seven new loci associated with age-related macular degeneration

(2013) Lars G Fritsche et al.   NATURE 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

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3

(2012) Valentina Cipriani et al.   HUMAN MOLECULAR GENETICS

Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

(2012) Stuart Cantsilieris 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

Modelling the Genetic Risk in Age-Related Macular Degeneration

(2012) Felix Grassmann et al.   PLoS One

Comprehensive Analysis of Copy Number Variation of Genes at Chromosome 1 and 10 Loci Associated with Late Age Related Macular Degeneration

(2012) Stuart Cantsilieris et al.   PLoS One

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Gene Expression Profiling of Vasoregression in the Retina—Involvement of Microglial Cells

(2011) Yuxi Feng et al.   PLoS One

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration

(2010) L J Kopplin et al.   GENES AND IMMUNITY

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

Investigation of genetic susceptibility factors for human longevity – A targeted nonsynonymous SNP study

(2010) Friederike Flachsbart et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

The pivotal role of the complement system in aging and age-related macular degeneration: Hypothesis re-visited

(2009) Don H. Anderson et al.   PROGRESS IN RETINAL AND EYE RESEARCH

High-throughput analysis of the C4 polymorphism by a combination of MLPA and isotype-specific ELISA's

(2008) Diana Wouters et al.   MOLECULAR IMMUNOLOGY

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

(2008) Lars G Fritsche et al.   NATURE GENETICS