PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

(2020) Erin Zampaglione et al.   GENETICS IN MEDICINE

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

(2020) Nikolas Pontikos et al.   OPHTHALMOLOGY

Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization

(2020) Tylor R. Lewis et al.   Frontiers in Cellular Neuroscience

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

(2020) Lars Tebbe et al.   Cells

Novel molecular mechanisms for Prph2‐associated pattern dystrophy

(2019) Dibyendu Chakraborty et al.   FASEB JOURNAL

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

(2018) Johannes Birtel et al.   Scientific Reports

PRPH2 (Peripherin/RDS) Mutations Associated with Different Macular Dystrophies in a Spanish Population: A New Mutation

(2018) Rosa M. Coco et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function

(2016) Dibyendu Chakraborty et al.   HUMAN MOLECULAR GENETICS

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

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing

(2014) Mark B. Consugar et al.   GENETICS IN MEDICINE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Focus on molecules: RDS

(2009) Shannon M. Conley et al.   EXPERIMENTAL EYE RESEARCH

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