| Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 619 | 2009 |
| Identification of microcephalin, a protein implicated in determining the size of the human brain AP Jackson, H Eastwood, SM Bell, J Adu, C Toomes, IM Carr, E Roberts, ... The American Journal of Human Genetics 71 (1), 136-142, 2002 | 468 | 2002 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 330 | 2007 |
| Identification of SATB2 as the cleft palate gene on 2q32–q33 DR FitzPatrick, IM Carr, L McLaren, JP Leek, P Wightman, K Williamson, ... Human molecular genetics 12 (19), 2491-2501, 2003 | 272 | 2003 |
| Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy S Uppal, CP Diggle, IM Carr, CWG Fishwick, M Ahmed, GH Ibrahim, ... Nature genetics 40 (6), 789-793, 2008 | 255 | 2008 |
| Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte DA Parry, CV Logan, BE Hayward, M Shires, H Landolsi, C Diggle, I Carr, ... The American Journal of Human Genetics 89 (3), 451-458, 2011 | 187 | 2011 |
| Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families IM Carr, KJ Flintoff, GR Taylor, AF Markham, DT Bonthron Human mutation 27 (10), 1041-1046, 2006 | 168 | 2006 |
| Mutation of the variant α-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia MR Abdollahi, E Morrison, T Sirey, Z Molnar, BE Hayward, IM Carr, ... The American Journal of Human Genetics 85 (5), 737-744, 2009 | 161 | 2009 |
| Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta DA Parry, AJ Mighell, W El-Sayed, RC Shore, IK Jalili, H Dollfus, ... The american journal of human genetics 84 (2), 266-273, 2009 | 138 | 2009 |
| CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation R Hjeij, A Onoufriadis, CM Watson, CE Slagle, NT Klena, GW Dougherty, ... The American Journal of Human Genetics 95 (3), 257-274, 2014 | 126 | 2014 |
| Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme CP Diggle, M Shires, D Leitch, D Brooke, IM Carr, AF Markham, ... Journal of Histochemistry & Cytochemistry 57 (8), 763-774, 2009 | 114 | 2009 |
| Genetic diagnosis of familial breast cancer using clonal sequencing JE Morgan, IM Carr, E Sheridan, CE Chu, B Hayward, N Camm, ... Human mutation 31 (4), 484-491, 2010 | 98 | 2010 |
| Prostate-specific membrane antigen: evidence for the existence of a second related human gene J Leek, N Lench, B Maraj, A Bailey, IM Carr, S Andersen, J Cross, ... British journal of cancer 72 (3), 583-588, 1995 | 94 | 1995 |
| Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) CV Logan, B Lucke, C Pottinger, ZA Abdelhamed, DA Parry, ... Nature genetics 43 (12), 1189-1192, 2011 | 81 | 2011 |
| The proteomes of transcription factories containing RNA polymerases I, II or III S Melnik, B Deng, A Papantonis, S Baboo, IM Carr, PR Cook Nature Methods, 2011 | 80 | 2011 |
| HEATR2 plays a conserved role in assembly of the ciliary motile apparatus CP Diggle, DJ Moore, G Mali, P zur Lage, A Ait-Lounis, M Schmidts, ... PLoS Genet 10 (9), e1004577, 2014 | 79 | 2014 |
| Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis CP Diggle, DA Parry, CV Logan, P Laissue, C Rivera, CM Restrepo, ... Human mutation 33 (8), 1175-1181, 2012 | 75 | 2012 |
| Sequence analysis and editing for bisulphite genomic sequencing projects IM Carr, EMA Valleley, SF Cordery, AF Markham, DT Bonthron Nucleic acids research 35 (10), e79, 2007 | 74 | 2007 |
| Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta DA Parry, SJ Brookes, CV Logan, JA Poulter, W El-Sayed, S Al-Bahlani, ... The American Journal of Human Genetics 91 (3), 565-571, 2012 | 73 | 2012 |
| The herpesvirus saimiri ORF50 gene, encoding a transcriptional activator homologous to the Epstein-Barr virus R protein, is transcribed from two distinct promoters of different … A Whitehouse, IM Carr, JC Griffiths, DM Meredith Journal of virology 71 (3), 2550-2554, 1997 | 71 | 1997 |
Eamonn SheridanUniversity of LeedsVerified email at leeds.ac.uk
