Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

ABCB6 Mutations Cause Ocular Coloboma

(2012) Lejing Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

(2012) Virginie Helias et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

(2011) Nelson Lopez Jimenez et al.   BMC Medical Genetics

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Retinoic acid receptor signaling regulates choroid fissure closure through independent mechanisms in the ventral optic cup and periocular mesenchyme

(2011) G. Lupo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FOXE3plays a significant role in autosomal recessive microphthalmia

(2010) Linda M. Reis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

(2010) Lance Doucette et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Effects of α-Crystallin on Lens Cell Function and Cataract Pathology

(2009) Usha Andley   CURRENT MOLECULAR MEDICINE

Novel SOX2 partner-factor domain mutation in a four-generation family

(2009) Marija Mihelec et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

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

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN 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

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

(2008) Gabriela Chavarria-Soley et al.   HUMAN MUTATION