Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

(2014) Rinki Ratnapriya et al.   HUMAN MOLECULAR GENETICS

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

(2014) Yi Yu et al.   HUMAN MOLECULAR GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

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

Seven new loci associated with age-related macular degeneration

(2013) Lars G Fritsche et al.   NATURE GENETICS

Association of ARMS2 Genotype With Bilateral Involvement of Exudative Age-Related Macular Degeneration

(2012) Hiroshi Tamura et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Clinical Evaluation of 3 Families With Basal Laminar Drusen Caused by Novel Mutations in the Complement Factor H Gene

(2012) Johannes P. H. van de Ven et al.   ARCHIVES OF OPHTHALMOLOGY

Genetic Studies of Age-related Macular Degeneration

(2012) Rinki Ratna Priya et al.   OPHTHALMOLOGY

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

(2011) Yi Yu et al.   HUMAN MOLECULAR GENETICS

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

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

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

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

(2010) W. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene

(2008) Camiel J.F. Boon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variation near complement factor I is associated with risk of advanced AMD

(2008) Jesen A Fagerness et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE