Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

Whole exome analysis identifies dominantCOL4A1mutations in patients with complex ocular phenotypes involving microphthalmia

(2014) B. Deml et al.   CLINICAL GENETICS

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

(2013) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

(2013) N. Chassaing et al.   CLINICAL GENETICS

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

(2013) Ivan Prokudin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fetal intracerebral hemorrhage and cataract: think COL4A1

(2013) E Colin et al.   Journal of Perinatology

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

(2012) Vanessa Vedrenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in PNPT1 , Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

(2012) Simon von Ameln et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Childhood presentation of COL4A1 mutations

(2012) SIDDHARTH SHAH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

(2012) Mohammed A Aldahmesh et al.   GENETICS IN MEDICINE

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations

(2011) Irina Balikova et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

(2011) Gordana Raca et al.   GENETICS IN MEDICINE

Eye development genes and known syndromes

(2011) Anne M. Slavotinek   MOLECULAR GENETICS AND METABOLISM

NovelSOX2mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

(2009) Adele Schneider et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

(2009) M. Asai-Coakwell et al.   HUMAN MOLECULAR GENETICS