Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

Subretinal fibrosis in stargardt's disease: case report

(2012) Alexandre Achille Grandinetti et al.   ARQUIVOS BRASILEIROS DE OFTALMOLOGIA

Phenotypic and genetic spectrum of Danish patients withABCA4-related retinopathy

(2012) Morten Duno et al.   OPHTHALMIC GENETICS

Centrifugal Expansion of Fundus Autofluorescence Patterns in Stargardt Disease Over Time

(2011) Catherine A. Cukras   ARCHIVES OF OPHTHALMOLOGY

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Retinal Function in X-linked Ocular Albinism (OA1)

(2009) S. Nusinowitz et al.   CURRENT EYE RESEARCH

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA