Publications by Dr Simon Ramsbottom - ePrints

Browsing publications by Dr Simon Ramsbottom.

Newcastle Authors	Title	Year
Miguel Barroso Gil Dr Eric Olinger Dr Simon Ramsbottom Dr Elisa Molinari Dr Colin Miles et al.	Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies	2021
Laura Devlin Dr Simon Ramsbottom Lynne Overman Dr Steven Lisgo Dr Gavin Clowry et al.	Embryonic and foetal expression patterns of the ciliopathy gene CEP164	2020
Laura Powell Miguel Barroso Gil Dr Gavin Clowry Laura Devlin Dr Elisa Molinari et al.	Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development	2020
Dr Simon Ramsbottom Professor Peter Thelwall Dr Katrina Wood Dr Gavin Clowry Laura Devlin et al.	Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome	2020
Dr Elisa Molinari Dr Simon Ramsbottom Professor John Sayer	A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling	2019
Dr Elisa Molinari Dr Simon Ramsbottom Dr Shalabh Srivastava Philip Booth Sumaya Alkanderi et al.	Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts	2019
Sumaya Alkanderi Dr Elisa Molinari Veronica Sammut Dr Simon Ramsbottom Dr Shalabh Srivastava et al.	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition	2018
Dr Elisa Molinari Dr 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 variants	2018
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 model	2018
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 model	2018
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 Professor Andrew Filby et al.	A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies	2017
Dr Noel Edwards Dr Simon Ramsbottom Professor John Sayer	A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion	2017
Dr Elisa Molinari Dr Shalabh Srivastava Professor John Sayer Dr Simon Ramsbottom	From disease modelling to personalised therapy in patients with CEP290 mutations	2017
Dr Simon Ramsbottom	Regulation of Hedgehog Signalling Inside and Outside the Cell	2016
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 alleles	2015
Dr Simon Ramsbottom	Using Confocal Analysis of Xenopus laevis to Investigate Modulators of Wnt and Shh Morphogen Gradients	2015
Dr Simon Ramsbottom Professor Deborah Henderson	Genetics of Cardiovascular Development	2014
Dr Veronika Boczonadi Dr Iain Keenan Dr Simon Ramsbottom Charlotte Donald-Wilson Dr Bill Chaudhry et al.	Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium	2014
Dr Simon Ramsbottom	Sulf1 influences the Shh morphogen gradient during the dorsal ventral patterning of the neural tube in Xenopus tropicalis	2014
Professor Deborah Henderson Dr Simon Ramsbottom Vipul Sharma	Vangl2-regulated polarisation of second heart field cells is required for outflow tract lengthening	2014
Dr Simon Ramsbottom Vipul Sharma Dr Hong Jun Rhee Dr Lorraine Eley Dr Helen Phillips et al.	Vangl2-Regulated Polarisation of Second Heart Field-Derived Cells Is Required for Outflow Tract Lengthening during Cardiac Development	2014