Genotype–phenotype associations in a large PRPH2 ‐related retinopathy cohort

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

(2019) Jasdeep S Gill et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

(2018) Johannes Birtel et al.   Scientific Reports

ClinVar at five years: Delivering on the promise

(2018) Melissa J. Landrum et al.   HUMAN MUTATION

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

(2018) Artur V. Cideciyan et al.   NATURE MEDICINE

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

(2017) Caroline Van Cauwenbergh et al.   PLoS One

Crystal Structure of a Full-Length Human Tetraspanin Reveals a Cholesterol-Binding Pocket

(2016) Brandon Zimmerman et al.   CELL

PRPH2/RDS and ROM-1: Historical context, current views and future considerations

(2016) Michael W. Stuck et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

(2015) Suma P. Shankar et al.   JAMA Ophthalmology

Rim formation is not a prerequisite for distribution of cone photoreceptor outer segment proteins

(2014) Shannon M. Conley et al.   FASEB JOURNAL

Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS

(2014) S. M. Conley et al.   HUMAN MOLECULAR GENETICS

Tetraspanins at a glance

(2014) S. Charrin et al.   JOURNAL OF CELL SCIENCE

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG

(2014) Rola Ba-Abbad et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing

(2013) D Blain et al.   CLINICAL GENETICS

Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease

(2013) Jacques Zaneveld et al.   Science China-Life Sciences

Smelling the roses and seeing the light: gene therapy for ciliopathies

(2013) Jeremy C. McIntyre et al.   TRENDS IN BIOTECHNOLOGY

Retinal Blinding Disorders and Gene Therapy - Molecular and Clinical Aspects

(2012) Birgit Lorenz et al.   CURRENT GENE THERAPY

eyeGENE(R)

(2012) Kerry E. Goetz et al.   CURRENT OPINION IN OPHTHALMOLOGY

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

(2011) Isabelle Meunier et al.   OPHTHALMOLOGY

Biochemical Analysis of Phenotypic Diversity Associated with Mutations in Codon 244 of the Retinal Degeneration Slow Gene

(2010) Shannon M. Conley et al.   BIOCHEMISTRY

Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS

(2010) Dibyendu Chakraborty et al.   HUMAN MOLECULAR GENETICS

Genomics in the Era of Molecular Ophthalmology

(2008) Brian P. Brooks   ARCHIVES OF OPHTHALMOLOGY

DNA sequencing by synthesis with degenerate primers

(2008) Chao Tang et al.   Journal of Genetics and Genomics

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

(2008) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH