Carr IM
Title
Cited by
Cited by
Year
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
6192009
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
4682002
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
3302007
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
2722003
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
2552008
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
1872011
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
1682006
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
1612009
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
1382009
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
1262014
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
1142009
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
982010
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
941995
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
812011
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
802011
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
792014
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
752012
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
742007
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
732012
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
711997
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Articles 1–20