Associated Papers
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.
Cascella R et al.
Biomedicines, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report.
Ayyagari R et al.
Translational Vision Science & Technology, 2024
Downregulation of rhodopsin is an effective therapeutic strategy in ameliorating peripherin-2-associated inherited retinal disorders.
Rutan Woods CT et al.
Nature Communications, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC et al.
Investigative Ophthalmology & Visual Science, 2024
Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.
Ikelle L et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Conley SM et al.
Investigative Ophthalmology & Visual Science, 2022
Prph2 disease mutations lead to structural and functional defects in the RPE.
Tebbe L et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Strayve D et al.
Human Molecular Genetics, 2020
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.
Coco-Martin RM et al.
Genes, 2020
Novel molecular mechanisms for Prph2-associated pattern dystrophy.
Chakraborty D et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
Zulliger R et al.
Human Molecular Genetics, 2018
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI et al.
Orphanet Journal of Rare Diseases, 2016
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.
Iannaccone A
Documenta Ophthalmologica. Advances in Ophthalmology, 2001