Simon A. Ramsbottom

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

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.

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.

Journal: Molecular genetics & genomic medicine

Published: September 02, 2020

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.

Journal: BMC developmental biology

Published: July 27, 2020

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 28, 2019

Embryonic and foetal expression patterns of the ciliopathy gene CEP164.

Embryonic and foetal expression patterns of the ciliopathy gene CEP164.

Journal: PloS one

Published: August 14, 2019

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

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

Journal: Scientific reports

Published: January 29, 2019

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.

Journal: F1000Research

Published: November 21, 2018

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: November 18, 2018

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Journal: American journal of human genetics

Published: June 12, 2018

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.

Journal: European journal of human genetics : EJHG

Published: March 23, 2018

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.

Journal: Cell reports

Published: July 26, 2017

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

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

Journal: Human molecular genetics

Published: May 23, 2017

From disease modelling to personalised therapy in patients with CEP290 mutations.

From disease modelling to personalised therapy in patients with CEP290 mutations.

Journal: F1000Research

Published: May 10, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026