Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes

(2013) Michael H Farkas et al.   BMC GENOMICS

Tissue-Specific Host Recognition by Complement Factor H Is Mediated by Differential Activities of Its Glycosaminoglycan-Binding Regions

(2013) S. J. Clark et al.   JOURNAL OF IMMUNOLOGY

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

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol

(2013) Alanna C Morrison et al.   NATURE GENETICS

Seven new loci associated with age-related macular degeneration

(2013) Lars G Fritsche et al.   NATURE GENETICS

Terminal Complement Inhibitor Eculizumab in Atypical Hemolytic–Uremic Syndrome

(2013) C.M. Legendre et al.   NEW ENGLAND JOURNAL OF MEDICINE

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies

(2012) Aude Servais et al.   KIDNEY INTERNATIONAL

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

(2011) Yi Yu et al.   HUMAN MOLECULAR GENETICS

Disease-associated N-terminal Complement Factor H Mutations Perturb Cofactor and Decay-accelerating Activities

(2011) Isabell C. Pechtl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Complement factor H binds malondialdehyde epitopes and protects from oxidative stress

(2011) David Weismann et al.   NATURE

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

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

Risk Models for Progression to Advanced Age-Related Macular Degeneration Using Demographic, Environmental, Genetic, and Ocular Factors

(2011) Johanna M. Seddon et al.   OPHTHALMOLOGY

Structural basis for complement factor I control and its disease-associated sequence polymorphisms

(2011) P. Roversi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Current Clinical Trials in Dry AMD and the Definition of Appropriate Clinical Outcome Measures

(2011) Zohar Yehoshua et al.   Seminars in Ophthalmology

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Impaired Binding of the Age-related Macular Degeneration-associated Complement Factor H 402H Allotype to Bruch's Membrane in Human Retina

(2010) Simon J. Clark et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pregnancy-Associated Hemolytic Uremic Syndrome Revisited in the Era of Complement Gene Mutations

(2010) F. Fakhouri et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(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

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

(2009) A. Tortajada et al.   HUMAN MOLECULAR GENETICS

The Binding of Factor H to a Complex of Physiological Polyanions and C3b on Cells Is Impaired in Atypical Hemolytic Uremic Syndrome

(2009) V. P. Ferreira et al.   JOURNAL OF IMMUNOLOGY

Structure of complement fragment C3b–factor H and implications for host protection by complement regulators

(2009) Jin Wu et al.   NATURE IMMUNOLOGY

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome

(2007) C. J. Fang et al.   BLOOD