Rachel Gillespie

Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

Rachel Gillespie, James O’Sullivan, Jane Ashworth et al. · Ophthalmology · 2014 · 179 citations · Full text

Molecular findings from 537 individuals with inherited retinal disease

Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar et al. · Journal of Medical Genetics · 2016 · 166 citations · Full text

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Gavin Arno, Smriti A. Agrawal, Aiden Eblimit et al. · The American Journal of Human Genetics · 2016 · 129 citations · Full text

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid et al. · The American Journal of Human Genetics · 2017 · 77 citations · Full text

Ocular Disease, Developmental Biology, Retina +8

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd et al. · Eye · 2016 · 55 citations · Full text

Bilateral Paediatric Cataracts, Ocular Disease, Ophthalmology +7