| RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, ... The American Journal of Human Genetics 80 (6), 1162-1170, 2007 | 297 | 2007 |
| Hedgehog signalling: emerging evidence for non-canonical pathways D Jenkins Cellular signalling 21 (7), 1023-1034, 2009 | 273 | 2009 |
| 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 | 262 | 2011 |
| An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 247 | 2016 |
| De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure D Jenkins, M Bitner-Glindzicz, S Malcolm, CCA Hu, J Allison, ... Journal of the American Society of Nephrology 16 (7), 2141-2149, 2005 | 146 | 2005 |
| Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4 X Caubit, CM Lye, E Martin, N Coré, DA Long, C Vola, D Jenkins, ... Oxford University Press for The Company of Biologists Limited 135 (19), 3301 …, 2008 | 132 | 2008 |
| Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization V Hernandez-Hernandez, P Pravincumar, A Diaz-Font, H May-Simera, ... Human molecular genetics 22 (19), 3858-3868, 2013 | 120 | 2013 |
| Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome AC Thomas, H Williams, N Setó-Salvia, C Bacchelli, D Jenkins, ... The American Journal of Human Genetics 95 (5), 611-621, 2014 | 109 | 2014 |
| Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization SRF Twigg, D Lloyd, D Jenkins, NE Elçioglu, CDO Cooper, N Al-Sannaa, ... The American Journal of Human Genetics 91 (5), 897-905, 2012 | 106 | 2012 |
| Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome SB Sousa, D Jenkins, E Chanudet, G Tasseva, M Ishida, G Anderson, ... Nature genetics 46 (1), 70-76, 2014 | 99 | 2014 |
| Putative roles of cilia in polycystic kidney disease P Winyard, D Jenkins Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (10 …, 2011 | 76 | 2011 |
| COLEC10 is mutated in 3MC patients and regulates early craniofacial development MM Munye, A Diaz-Font, L Ocaka, ML Henriksen, M Lees, A Brady, ... PLoS genetics 13 (3), e1006679, 2017 | 70 | 2017 |
| SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 D Bryant, Y Liu, S Datta, H Hariri, M Seda, G Anderson, E Peskett, ... Human molecular genetics 27 (11), 1927-1940, 2018 | 67 | 2018 |
| Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development D Jenkins, PJD Winyard, AS Woolf Journal of anatomy 211 (5), 620-629, 2007 | 59 | 2007 |
| Uroplakins: new molecular players in the biology of urinary tract malformations D Jenkins, AS Woolf Kidney international 71 (3), 195-200, 2007 | 54 | 2007 |
| Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3 JA Hurst, D Jenkins, PC Vasudevan, M Kirchhoff, F Skovby, C Rieubland, ... European journal of human genetics 19 (7), 757-762, 2011 | 53 | 2011 |
| Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense‐mediated mRNA decay D Jenkins, G Baynam, L De Catte, N Elcioglu, MT Gabbett, L Hudgins, ... Human mutation 32 (4), E2069-E2078, 2011 | 47 | 2011 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 45 | 2020 |
| Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism WY Lam, CSM Tang, MT So, H Yue, JS Hsu, PHY Chung, JM Nicholls, ... EBioMedicine 71, 2021 | 38 | 2021 |
| Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis M Taschner, A Lorentzen, A Mourao, T Collins, GM Freke, D Moulding, ... Elife 7, e33067, 2018 | 36 | 2018 |
