Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

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

Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma

(2011) Kamron Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer

(2011) Kai Jie Wang et al.   HUMAN MUTATION

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

(2010) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal Dominant Congenital Nuclear Cataracts Caused by a CRYAA Gene Mutation

(2010) Fei-Feng Li et al.   CURRENT EYE RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

Novel genomic techniques open new avenues in the analysis of monogenic disorders

(2010) Gregor Kuhlenbäumer et al.   HUMAN MUTATION

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

Dominant cataract formation in association with a vimentin assembly disrupting mutation

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

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

(2008) Barbara Kloeckener-Gruissem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

(2008) Naheed Sajjad et al.   BMC Medical Genetics

Congenital cataracts and their molecular genetics

(2007) J. Fielding Hejtmancik   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY