| 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 | 704 | 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 | 506 | 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 | 404 | 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 | 317 | 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 | 302 | 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 | 225 | 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 | 178 | 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 | 174 | 2009 |
| 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 | 167 | 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 | 166 | 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 | 161 | 2014 |
| 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 | 116 | 1995 |
| 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 genetics 10 (9), e1004577, 2014 | 114 | 2014 |
| An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target SK Mahil, M Catapano, P Di Meglio, N Dand, H Ahlfors, IM Carr, CH Smith, ... Science translational medicine 9 (411), eaan2514, 2017 | 112 | 2017 |
| 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 | 102 | 2011 |
| Inferring relative proportions of DNA variants from sequencing electropherograms IM Carr, JI Robinson, R Dimitriou, AF Markham, AW Morgan, DT Bonthron Bioinformatics 25 (24), 3244-3250, 2009 | 98 | 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 | 97 | 2010 |
| 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 | 92 | 2011 |
| 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 | 91 | 2012 |
| 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 | 88 | 2012 |
Eamonn SheridanUniversity of LeedsVerified email at leeds.ac.uk
