Jamie M. Ellingford

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

Ranjay Jayadev, Mychel Morais, Jamie M. Ellingford et al. · Science Advances · 2022 · 207 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16

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 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular findings from 537 individuals with inherited retinal disease

Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar et al. · Journal of Medical Genetics · 2016 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

D. Gareth Evans, Elke M. van Veen, Helen Byers et al. · The American Journal of Human Genetics · 2018 · 100 citations · Full text

Medicine, Genetics, Molecular Genetics +17