| Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome C Rooryck, A Diaz-Font, DPS Osborn, E Chabchoub, ... Nature genetics 43 (3), 197-203, 2011 | 265 | 2011 |
| Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene J Walczak-Sztulpa, J Eggenschwiler, D Osborn, DA Brown, F Emma, ... The American Journal of Human Genetics 86 (6), 949-956, 2010 | 217 | 2010 |
| Signals and myogenic regulatory factors restrict pax3 and pax7 expression to dermomyotome-like tissue in zebrafish CL Hammond, Y Hinits, DPS Osborn, JEN Minchin, G Tettamanti, ... Developmental biology 302 (2), 504-521, 2007 | 175 | 2007 |
| Basal body stability and ciliogenesis requires the conserved component Poc1 CG Pearson, DPS Osborn, TH Giddings Jr, PL Beales, M Winey Journal of Cell Biology 187 (6), 905-920, 2009 | 136 | 2009 |
| Differential requirements for myogenic regulatory factors distinguish medial and lateral somitic, cranial and fin muscle fibre populations Y Hinits, DPS Osborn, SM Hughes Oxford University Press for The Company of Biologists Limited 136 (3), 403-414, 2009 | 129 | 2009 |
| Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left–right asymmetry in zebrafish HL May-Simera, M Kai, V Hernandez, DPS Osborn, M Tada, PL Beales Developmental biology 345 (2), 215-225, 2010 | 87 | 2010 |
| Heat shock induces rapid resorption of primary cilia NV Prodromou, CL Thompson, DPS Osborn, KF Cogger, R Ashworth, ... Journal of cell science 125 (18), 4297-4305, 2012 | 79 | 2012 |
| Mrf4 (myf6) is dynamically expressed in differentiated zebrafish skeletal muscle Y Hinits, DPS Osborn, JJ Carvajal, PWJ Rigby, SM Hughes Gene Expression Patterns 7 (7), 738-745, 2007 | 70 | 2007 |
| Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjögren syndrome and dystroglycanopathy DPS Osborn, HL Pond, N Mazaheri, J Dejardin, CJ Munn, K Mushref, ... The American Journal of Human Genetics 100 (3), 537-545, 2017 | 62 | 2017 |
| WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome YJ Kim, DPS Osborn, JY Lee, M Araki, K Araki, T Mohun, J Känsäkoski, ... EMBO reports 19 (2), 269-289, 2018 | 54 | 2018 |
| Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome M Cardenas-Rodriguez, DPS Osborn, F Irigoín, M Graña, H Romero, ... Human genetics 132, 91-105, 2013 | 44 | 2013 |
| Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia M Wagner, DPS Osborn, I Gehweiler, M Nagel, U Ulmer, S Bakhtiari, ... Nature communications 10 (1), 4790, 2019 | 43 | 2019 |
| The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex M Cardenas-Rodriguez, F Irigoín, DPS Osborn, C Gascue, N Katsanis, ... Human molecular genetics 22 (20), 4031-4042, 2013 | 41 | 2013 |
| Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 C Hedberg-Oldfors, A Abramsson, DPS Osborn, O Danielsson, ... Human Molecular Genetics 28 (11), 1919-1929, 2019 | 40 | 2019 |
| Cdkn1c drives muscle differentiation through a positive feedback loop with Myod DPS Osborn, K Li, Y Hinits, SM Hughes Developmental biology 350 (2), 464-475, 2011 | 39 | 2011 |
| Evaluation of zebrafish kidney function using a fluorescent clearance assay S Christou-Savina, PL Beales, DPS Osborn JoVE (Journal of Visualized Experiments), e52540, 2015 | 37 | 2015 |
| Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies DPS Osborn, RM Roccasecca, F McMurray, V Hernandez-Hernandez, ... PLoS One 9 (2), e87662, 2014 | 33 | 2014 |
| Bi-allelic mutations in MYL1 cause a severe congenital myopathy G Ravenscroft, IT Zaharieva, CA Bortolotti, M Lambrughi, M Pignataro, ... Human molecular genetics 27 (24), 4263-4272, 2018 | 31 | 2018 |
| Synaptotagmin 5 regulates Ca2+-dependent Weibel–Palade body exocytosis in human endothelial cells C Lenzi, J Stevens, D Osborn, MJ Hannah, R Bierings, T Carter Journal of cell science 132 (5), jcs221952, 2019 | 19 | 2019 |
| Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3 DPS Osborn, L Emrahi, J Clayton, MT Tabrizi, AYB Wan, R Maroofian, ... Genetics in Medicine 23 (4), 787-792, 2021 | 17 | 2021 |
Simon M. HughesUKRI/Medical Research Council and King's College LondonVerified email at kcl.ac.uk
