Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

ω-3 Intake and Visual Acuity in Patients With Retinitis Pigmentosa Receiving Vitamin A

(2012) Eliot L. Berson et al.   ARCHIVES OF OPHTHALMOLOGY

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

(2012) Katsuhiro Hosono et al.   PLoS One

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

(2012) Koji M. Nishiguchi et al.   PLoS One

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish

(2012) Na Luo et al.   VISION RESEARCH

miR-124a is required for hippocampal axogenesis and retinal cone survival through Lhx2 suppression

(2011) Rikako Sanuki et al.   NATURE NEUROSCIENCE

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

(2011) Suresh B. Patil et al.   PLoS One

Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations

(2011) Abigail T. Fahim et al.   PLoS One

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

(2011) K. A. Fakhro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss

(2010) Jun Yang et al.   PLoS Genetics

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

(2009) Tracy Tucker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms of Apoptosis in Retinitis Pigmentosa

(2009) Sandra Cottet et al.   CURRENT MOLECULAR MEDICINE

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

(2008) A. V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA