Rachael C. Heath Jeffery

Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia

Rachael C. Heath Jeffery, Syed Aqif Mukhtar, Ian L. McAllister et al. · Ophthalmic Genetics · 2021 · 198 citations · Full text

Medicine, Ophthalmology, Pediatrics +17

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

Helen J. Kuht, Gail Maconachie, Jinu Han et al. · Ophthalmology · 2022 · 72 citations · Full text

Medicine, Genetics, Ophthalmology +17

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

Samuel McLenachan, Dan Zhang, Janya Grainok et al. · Genes · 2021 · 31 citations · Full text

Medicine, Genetics, Ophthalmology +16

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

Rachael C. Heath Jeffery, Jennifer A Thompson, Johnny Lo et al. · Investigative Ophthalmology & Visual Science · 2024 · 25 citations · Full text

Medicine, Genetics, Ophthalmology +17

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in <i>CRB1</i>-Associated Retinopathies

Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery et al. · Translational Vision Science & Technology · 2021 · 21 citations · Full text

Health Professions, Molecular Genetics, Vision Science +17