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Browsing publications by Dr Simon Ramsbottom

Newcastle AuthorsTitleYearFull text
Sumaya Alkanderi
Dr Elisa Molinari
Veronica Sammut
Dr Simon Ramsbottom
Dr Shalabh Srivastava
et al.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition2018
Dr Elisa Molinari
Holly Mabillard
Dr Shalabh Srivastava
Dr Katrina Wood
Sumaya Alkanderi
et al.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants2018
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Shalabh Srivastava
Sumaya Alkanderi
Laura Devlin
et al.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model2018
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Shalabh Srivastava
Sumaya Alkanderi
Laura Devlin
et al.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model2018
Dr Elisa Molinari
Dr Simon Ramsbottom
Veronica Sammut
Professor John Sayer
Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations]2018
Dr Shalabh Srivastava
Dr Simon Ramsbottom
Dr Elisa Molinari
Sumaya Alkanderi
Dr Andrew Filby
et al.
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies2017
Dr Noel Edwards
Dr Simon Ramsbottom
Professor John Sayer
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion2017
Dr Elisa Molinari
Dr Shalabh Srivastava
Professor John Sayer
Dr Simon Ramsbottom
From disease modelling to personalised therapy in patients with CEP290 mutations2017
Dr Simon Ramsbottom
Regulation of Hedgehog Signalling Inside and Outside the Cell2016
Dr Simon Ramsbottom
Dr Colin Miles
Professor John Sayer
Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles2015
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