Follow
Simon Rock
Simon Rock
Newcastle University
Verified email at nhs.net
Title
Cited by
Cited by
Year
Vangl2-regulated polarisation of second heart field-derived cells is required for outflow tract lengthening during cardiac development
SA Ramsbottom, V Sharma, HJ Rhee, L Eley, HM Phillips, HF Rigby, ...
PLoS genetics 10 (12), e1004871, 2014
862014
ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition
S Alkanderi, E Molinari, R Shaheen, Y Elmaghloob, LA Stephen, ...
The American Journal of Human Genetics 103 (4), 612-620, 2018
762018
Regulation of hedgehog signalling inside and outside the cell
SA Ramsbottom, ME Pownall
Journal of developmental biology 4 (3), 23, 2016
762016
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies
S Srivastava, SA Ramsbottom, E Molinari, S Alkanderi, A Filby, K White, ...
Human molecular genetics 26 (23), 4657-4667, 2017
612017
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model
SA Ramsbottom, E Molinari, S Srivastava, F Silberman, C Henry, ...
Proceedings of the National Academy of Sciences 115 (49), 12489-12494, 2018
502018
Lin28 proteins are required for germ layer specification in Xenopus
L Faas, FC Warrander, R Maguire, SA Ramsbottom, D Quinn, P Genever, ...
Development 140 (5), 976-986, 2013
502013
A CEP104-CSPP1 complex is required for formation of primary cilia competent in hedgehog signaling
KAM Frikstad, E Molinari, M Thoresen, SA Ramsbottom, F Hughes, ...
Cell reports 28 (7), 1907-1922. e6, 2019
392019
Scrib: Rac1 interactions are required for the morphogenesis of the ventricular myocardium
V Boczonadi, R Gillespie, I Keenan, SA Ramsbottom, C Donald-Wilson, ...
Cardiovascular research 104 (1), 103-115, 2014
282014
Sulf1 influences the Shh morphogen gradient during the dorsal ventral patterning of the neural tube in Xenopus tropicalis
SA Ramsbottom, RJ Maguire, SW Fellgett, ME Pownall
Developmental biology 391 (2), 207-218, 2014
282014
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants
E Molinari, E Decker, H Mabillard, J Tellez, S Srivastava, S Raman, ...
European Journal of Human Genetics 26 (12), 1791-1796, 2018
242018
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
SA Ramsbottom, PE Thelwall, KM Wood, GJ Clowry, LA Devlin, ...
Proceedings of the National Academy of Sciences 117 (2), 1113-1118, 2020
222020
Cyclin E is recruited to the nuclear matrix during differentiation, but is not recruited in cancer cells
J Munkley, NA Copeland, V Moignard, JRP Knight, E Greaves, ...
Nucleic acids research 39 (7), 2671-2677, 2011
222011
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion
N Edwards, E Olinger, J Adam, M Kelly, G Schiano, SA Ramsbottom, ...
Nephrology Dialysis Transplantation 32 (12), 1994-1999, 2017
212017
Fatty acid content of Indonesian aquatic microalgae
TRI Prartono, M Kawaroe, DW Sari, D Augustine
HAYATI Journal of Biosciences 17 (4), 196-200, 2010
202010
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts
E Molinari, SA Ramsbottom, S Srivastava, P Booth, S Alkanderi, ...
Scientific reports 9 (1), 10828, 2019
182019
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation …
M Barroso‐Gil, E Olinger, SA Ramsbottom, E Molinari, CG Miles, JA Sayer
Molecular Genetics & Genomic Medicine 9 (12), e1603, 2021
122021
Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
S Ramsbottom, C Miles, J Sayer
F1000Research 4, 2015
122015
Genetics of cardiovascular development
HDJ Chaudhry B, Ramsbottom S
Genetics of Cardiovascular Disease 124, 19-41, 2014
10*2014
From disease modelling to personalised therapy in patients with CEP290 mutations
E Molinari, S Srivastava, JA Sayer, SA Ramsbottom
F1000Research 6, 2017
92017
Gsx transcription factors repress Iroquois gene expression
EF Winterbottom, SA Ramsbottom, HV Isaacs
Developmental Dynamics 240 (6), 1422-1429, 2011
92011
The system can't perform the operation now. Try again later.
Articles 1–20