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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
7042009
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
5062002
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
4042007
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
3172003
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
3022008
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
2252011
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
1782006
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
1742009
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
1672009
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
1662009
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
1612014
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
1161995
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
1142014
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
1122017
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
1022011
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
982009
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
972010
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
922011
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
912012
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
882012
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