SLC7A14 linked to autosomal recessive retinitis pigmentosa

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

(2013) Xiu-Feng Huang et al.   PLoS One

Protein Serine/Threonine Phosphotase-1 is Essential in Governing Normal Development of Vertebrate Eye

(2012) W.-B. Liu et al.   CURRENT MOLECULAR MEDICINE

Automatic Segmentation of the Central Epithelium Imaged With Three Optical Coherence Tomography Devices

(2012) Lili Ge et al.   Eye & Contact Lens-Science and Clinical Practice

A Chimera Carrying the Functional Domain of the Orphan Protein SLC7A14 in the Backbone of SLC7A2 Mediates Trans-stimulated Arginine Transport

(2012) Isabel Jaenecke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

(2012) Isabelle Perrault et al.   NATURE GENETICS

NMNAT1 mutations cause Leber congenital amaurosis

(2012) Marni J Falk et al.   NATURE GENETICS

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

Phenylthiourea Specifically Reduces Zebrafish Eye Size

(2012) Zeran Li et al.   PLoS One

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Trimethyltin chloride (TMT) neurobehavioral toxicity in embryonic zebrafish

(2011) Jiangfei Chen et al.   NEUROTOXICOLOGY AND TERATOLOGY

TAL Effectors: Customizable Proteins for DNA Targeting

(2011) A. J. Bogdanove et al.   SCIENCE

Automatic segmentation of seven retinal layers in SDOCT images congruent with expert manual segmentation

(2010) Stephanie J. Chiu et al.   OPTICS EXPRESS

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Docking Motif-Guided Mapping of the Interactome of Protein Phosphatase-1

(2009) Annick Hendrickx et al.   CHEMISTRY & BIOLOGY