Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

An Abundance of Ubiquitously Expressed Genes Revealed by Tissue Transcriptome Sequence Data

Daniel Ramsköld, Eric T. Wang, Christopher B. Burge et al. · PLoS Computational Biology · 2009 · 862 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +15

CRX ChIP-seq reveals the <i>cis</i>-regulatory architecture of mouse photoreceptors

Joseph C. Corbo, Karen A. Lawrence, Marcus Karlstetter et al. · Genome Research · 2010 · 236 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

Erwin van Wijk, Ronald J. E. Pennings, Heleen te Brinke et al. · The American Journal of Human Genetics · 2004 · 202 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Cone Opsin Mislocalization in<i>Rpe65</i>^−/−Mice: A Defect That Can Be Corrected by 11-<i>cis</i>Retinal

Bäerbel Rohrer, Heather R. Lohr, Peter Humphries et al. · Investigative Ophthalmology & Visual Science · 2005 · 137 citations

Medicine, Neuroscience, Ophthalmology +17

Why Do Mutations in the Ubiquitously Expressed Housekeeping Gene<i>IMPDH1</i>Cause Retina-Specific Photoreceptor Degeneration?

Sara J. Bowne, Qin Liu, Lori S. Sullivan et al. · Investigative Ophthalmology & Visual Science · 2006 · 71 citations · Full text

Medicine, Genetics, Molecular Genetics +17