Simon A. Ramsbottom

Vangl2-Regulated Polarisation of Second Heart Field-Derived Cells Is Required for Outflow Tract Lengthening during Cardiac Development

Simon A. Ramsbottom, Vipul Sharma, Hong Jun Rhee et al. · PLoS Genetics · 2014 · 101 citations · Full text

Life Sciences, Developmental Biology, Cell Differentiation +13

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen et al. · The American Journal of Human Genetics · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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

Regulation of Hedgehog Signalling Inside and Outside the Cell

Simon A. Ramsbottom, Mary Elizabeth Pownall · Journal of Developmental Biology · 2016 · 69 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari et al. · Human Molecular Genetics · 2017 · 69 citations · Full text

Medicine, Cell Biology, Genetics +16