Simon Ramsden

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text

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

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar et al. · Ophthalmology · 2016 · 164 citations · Full text

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

James O’Sullivan, Brendan G Mullaney, Sanjeev S. Bhaskar et al. · Journal of Medical Genetics · 2012 · 152 citations · Full text