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Simon A. Ramsbottom · SciRah

Researcher profile · Semantic Scholar

Simon A. Ramsbottom

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Simon A. Ramsbottom — researcher profile on SciRah

h-index: 14
Works: 25
Citations: 672

Most-cited papers

This Work Is Licensed under a Creative Commons Attribution 4.0 International Licenseregulated Polarisation of Second Heart Field-derived Cells Is Required for Outflow Tract Lengthening during Cardiac Date Deposited: Vangl2-regulated Polarisation of Second Heart Field- Derived Cells Is Required for O
Ramsbottom Sa, S. V, Rhee Hj, E. L +14 more
83 citations
Semantic Scholar
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
Sumaya Alkanderi, E. Molinari, R. Shaheen, Yasmin ElMaghloob +15 more
2018American Journal of Human Genetics79 citations Open access
Semantic Scholar
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model
Simon A. Ramsbottom, E. Molinari, Shalabh Srivastava, Flora Silberman +8 more
2018Proceedings of the National Academy of Sciences of the United States of America65 citations Open access
Semantic Scholar
Regulation of Hedgehog Signalling Inside and Outside the Cell
Simon A. Ramsbottom, M. Pownall
2016Journal of Developmental Biology65 citations Open access
Semantic Scholar
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
Shalabh Srivastava, Simon A. Ramsbottom, E. Molinari, Sumaya Alkanderi +6 more
2017Human Molecular Genetics57 citations Open access
Semantic Scholar
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
Kari-Anne M Frikstad, E. Molinari, M. Thoresen, Simon A. Ramsbottom +12 more
2019Cell Reports49 citations Open access
Semantic Scholar
Lin28 proteins are required for germ layer specification in Xenopus
L. Faas, Fiona C. Warrander, Richard J. Maguire, Simon A. Ramsbottom +3 more
2013Development48 citations
Semantic Scholar
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants
E. Molinari, E. Decker, Holly R. Mabillard, J. Tellez +11 more
2018European Journal of Human Genetics30 citations Open access
Semantic Scholar
Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium
Veronika Boczonadi, R. Gillespie, Iain D. Keenan, Simon A. Ramsbottom +6 more
2014Cardiovascular Research27 citations Open access
Semantic Scholar
Sulf1 influences the Shh morphogen gradient during the dorsal ventral patterning of the neural tube in Xenopus tropicalis.
Simon A. Ramsbottom, Richard J. Maguire, Simon W. Fellgett, M. Pownall
2014Developmental Biology26 citations Open access
Semantic Scholar
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts
E. Molinari, Simon A. Ramsbottom, Shalabh Srivastava, Philip Booth +7 more
2019Scientific Reports25 citations Open access
Semantic Scholar
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
Simon A. Ramsbottom, P. Thelwall, K. Wood, G. Clowry +11 more
2019Proceedings of the National Academy of Sciences of the United States of America22 citations Open access
Semantic Scholar
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion
Noel Edwards, E. Olinger, Jennifer Adam, Michael Kelly +5 more
2017Nephrology, Dialysis and Transplantation20 citations Open access
Semantic Scholar
Cyclin E is recruited to the nuclear matrix during differentiation, but is not recruited in cancer cells
J. Munkley, Nikki A. Copeland, Victoria Moignard, J. Knight +6 more
2010Nucleic Acids Research18 citations Open access
Semantic Scholar
Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
Simon A. Ramsbottom, C. Miles, J. Sayer
2015F1000Research13 citations Open access
Semantic Scholar
Genetics of cardiovascular development.
B. Chaudhry, Simon A. Ramsbottom, D. Henderson
2014Progress in Molecular Biology and Translational Science12 citations Open access
Semantic Scholar
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
M. Barroso-Gil, E. Olinger, Simon A. Ramsbottom, E. Molinari +2 more
2021Molecular Genetics & Genomic Medicine11 citations Open access
Semantic Scholar
From disease modelling to personalised therapy in patients with CEP290 mutations
E. Molinari, Shalabh Srivastava, J. Sayer, Simon A. Ramsbottom
2017F1000Research9 citations Open access
Semantic Scholar
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
L. Powell, M. Barroso-Gil, G. J. Clowry, L. Devlin +4 more
2020BMC Developmental Biology5 citations Open access
Semantic Scholar
Using zebrafish to study the function of nephronophthisis and related ciliopathy genes
E. Molinari, Simon A. Ramsbottom, Veronica Sammut, Frances E P Hughes +1 more
2018F1000Research5 citations Open access
Semantic Scholar
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
Miguel Gil, E. Olinger, Simon A. Ramsbottom, E. Molinari +2 more
20203 citations
Semantic Scholar
Using Confocal Analysis of Xenopus laevis to Investigate Modulators of Wnt and Shh Morphogen Gradients.
Simon W. Fellgett, Simon A. Ramsbottom, Richard J. Maguire, S. Cross +2 more
2015Journal of Visualized Experiments3 citations Open access
Semantic Scholar
557Vangl2-regulated polarisation of second heart field cells is required for outflow tract lengthening
D. Henderson, Simon A. Ramsbottom, V. Sharma, B. Chaudhry
20140 citations Open access
Semantic Scholar
The role of Sulf1 during Sonic hedgehog mediated neural patterning
Simon A. Ramsbottom
20110 citations
Semantic Scholar
21-P030 The role of Sulf1 in Sonic hedgehog mediated neuronal patterning
Simon A. Ramsbottom, M. Pownall
20090 citations Open access
Semantic Scholar

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