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Browsing publications by Dr Simon Ramsbottom

Newcastle AuthorsTitleYearFull text
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 therapies2021
Laura Devlin
Dr Simon Ramsbottom
Lynne Overman
Dr Steven Lisgo
Dr Gavin Clowry
et al.
Embryonic and foetal expression patterns of the ciliopathy gene CEP1642020
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 development2020
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 syndrome2020
Dr Elisa Molinari
Dr Simon Ramsbottom
Professor John Sayer
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling2019
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 fibroblasts2019
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
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 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
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