SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

(2014) Lars Hansen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Causal analysis approaches in Ingenuity Pathway Analysis

(2013) Andreas Krämer et al.   BIOINFORMATICS

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

(2013) Vanita Berry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

(2013) Linda M. Reis et al.   HUMAN GENETICS

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

(2012) Mohammed A. Aldahmesh et al.   HUMAN MUTATION

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

(2012)   NATURE

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

(2011) Jianjun Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

(2011) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma

(2011) S. A. Lachke et al.   SCIENCE

Analysis of Protein–Protein Interactions and Proteomic Profiles of Normal Human Lenses

(2010) Zhibin Yao et al.   CURRENT EYE RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

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

Dominant cataract formation in association with a vimentin assembly disrupting mutation

(2009) M. Muller et al.   HUMAN MOLECULAR GENETICS

Mutations of theEPHA2receptor tyrosine kinase gene cause autosomal dominant congenital cataract

(2009) Tianxiao Zhang et al.   HUMAN MUTATION

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

(2009) Prateek Kumar et al.   Nature Protocols

Integrins in lens development and disease

(2008) Janice Walker et al.   EXPERIMENTAL EYE RESEARCH