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Carr IM
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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
7802009
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
5332002
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
4612007
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
3412008
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
3392003
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
2452011
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
1942009
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
1872009
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
1862009
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
1802006
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
1772014
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
1422017
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
1271995
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
1222014
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
1132012
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
1112011
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
1112009
Standardized protocols for differentiation of THP-1 cells to macrophages with distinct M (IFNγ+ LPS), M (IL-4) and M (IL-10) phenotypes
EW Baxter, AE Graham, NA Re, IM Carr, JI Robinson, SL Mackie, ...
Journal of immunological methods 478, 112721, 2020
1092020
The Tudor SND1 protein is an m6A RNA reader essential for replication of Kaposi’s sarcoma-associated herpesvirus
B Baquero-Perez, A Antanaviciute, ID Yonchev, IM Carr, SA Wilson, ...
Elife 8, e47261, 2019
1052019
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
1002012
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