Laura A. Devlin

Targeted exon skipping of a <i>CEP290</i> mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava et al. · Proceedings of the National Academy of Sciences · 2018 · 70 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Simon A. Ramsbottom, Peter E. Thelwall, Katrina Wood et al. · Proceedings of the National Academy of Sciences · 2019 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

Elisa Molinari, Simon A. Ramsbottom, Shalabh Srivastava et al. · Scientific Reports · 2019 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

Laura A. Devlin, Simon A. Ramsbottom, L. M. Overman et al. · PLoS ONE · 2020 · 10 citations · Full text

Life Sciences, Developmental Biology, Molecular Genetics +13