| 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 | 87 | 2014 |
| 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 | 78 | 2018 |
| Regulation of hedgehog signalling inside and outside the cell SA Ramsbottom, ME Pownall Journal of developmental biology 4 (3), 23, 2016 | 77 | 2016 |
| 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 | 62 | 2017 |
| 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 | 52 | 2018 |
| 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 | 50 | 2013 |
| 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 | 42 | 2019 |
| 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 | 28 | 2014 |
| 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 | 28 | 2014 |
| 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 | 26 | 2018 |
| 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 | 23 | 2020 |
| 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 | 22 | 2011 |
| 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 | 21 | 2017 |
| 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 | 20 | 2019 |
| Fatty acid content of Indonesian aquatic microalgae TRI Prartono, M Kawaroe, DW Sari, D Augustine HAYATI Journal of Biosciences 17 (4), 196-200, 2010 | 20 | 2010 |
| 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 | 13 | 2021 |
| 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 | 12 | 2015 |
| Genetics of cardiovascular development HDJ Chaudhry B, Ramsbottom S Genetics of Cardiovascular Disease 124, 19-41, 2014 | 10* | 2014 |
| Embryonic and foetal expression patterns of the ciliopathy gene CEP164 LA Devlin, SA Ramsbottom, LM Overman, SN Lisgo, G Clowry, E Molinari, ... PLoS One 15 (1), e0221914, 2020 | 9 | 2020 |
| From disease modelling to personalised therapy in patients with CEP290 mutations E Molinari, S Srivastava, JA Sayer, SA Ramsbottom F1000Research 6, 2017 | 9 | 2017 |
