Mariya Moosajee

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

Nikolas Pontikos, Gavin Arno, Neringa Jurkutė et al. · Ophthalmology · 2020 · 244 citations · Full text

The Oculome Panel Test

Aara Patel, Jane Hayward, Vijay Tailor et al. · Ophthalmology · 2019 · 105 citations

Reliability, Engineering, Measurement +6

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

Mariya Moosajee, Dhani Tracey‐White, Matthew Smart et al. · Human Molecular Genetics · 2016 · 74 citations · Full text

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

Mariya Moosajee, Kevin Gregory‐Evans, Charles D. Ellis et al. · Human Molecular Genetics · 2008 · 65 citations