Molecular diagnosis of putative Stargardt disease probands by exome sequencing

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis

(2011) Isabelle Meunier et al.   OPHTHALMOLOGY

Analysis of Autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease

(2010) B. Chen et al.   EXPERIMENTAL EYE RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

(2010) Amélie Bonnefond et al.   PLoS One

Genetics and molecular pathology of Stargardt-like macular degeneration

(2010) Vidyullatha Vasireddy et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Novel PRPF31 and PRPH2 Mutations and Co-occurrence of PRPF31 and RHO Mutations in Chinese Patients With Retinitis Pigmentosa

(2009) King Poo Lim   ARCHIVES OF OPHTHALMOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Novel mutations in of the ABCR gene in italian patients with Stargardt disease

(2009) I Passerini et al.   EYE

Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations

(2008) Agnes B. Renner et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

(2008) J Aguirre-Lamban et al.   BRITISH JOURNAL OF OPHTHALMOLOGY