Analysis of Rare Variants in the C3 Gene in Patients with Age-Related Macular Degeneration

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

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

(2013) Hannes Helgason et al.   NATURE GENETICS

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

(2013) Johannes P H van de Ven 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

A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function

(2012) L. T. Roumenina et al.   BLOOD

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding

(2012) Elena Volokhina et al.   PEDIATRIC NEPHROLOGY

The Rotterdam Study: 2012 objectives and design update

(2011) Albert Hofman et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

Risk Alleles in CFH and ARMS2 Are Independently Associated with Systemic Complement Activation in Age-related Macular Degeneration

(2011) Dzenita Smailhodzic et al.   OPHTHALMOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

(2009) Lucia Sobrin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome

(2009) Frank Bienaime et al.   KIDNEY INTERNATIONAL

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

(2008) V. Fremeaux-Bacchi et al.   BLOOD

The spectrum of complement alternative pathway-mediated diseases

(2008) V. Michael Holers   IMMUNOLOGICAL REVIEWS