Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway

Por Dimitriou, Rozalia, Carr, Ian M, West, Robert M, Markham, Alexander F, Giannoudis, Peter V
Publicado em 2011

The proteomes of transcription factories containing RNA polymerases I, II or III

Por Melnik, Svitlana, Deng, Binwei, Papantonis, Argyris, Baboo, Sabyasachi, Carr, Ian M., Cook, Peter R
Publicado em 2011

Advantage from massive parallel sequencing of RYR1 and CACNA1S in diagnostics of malignant hyperthermia susceptibility

Por Fiszer, Dorota, Fisher, Nickla A, Carr, Ian M, Shaw, Marie-Anne, Hopkins, Philip M
Publicado em 2014

Sequence analysis and editing for bisulphite genomic sequencing projects

Por Carr, Ian M., Valleley, Elizabeth M. A., Cordery, Sarah F., Markham, Alexander F., Bonthron, David T.
Publicado em 2007

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles

Por Antanaviciute, Agne, Daly, Catherine, Crinnion, Laura A., Markham, Alexander F., Watson, Christopher M., Bonthron, David T., Carr, Ian M.
Publicado no Bioinformatics (2015)

MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects

Por Pardo, Carolina E., Carr, Ian M., Hoffman, Christopher J., Darst, Russell P., Markham, Alexander F., Bonthron, David T., Kladde, Michael P.
Publicado em 2011

The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors

Por Ingram, Nicola, Macnab, Stuart A, Marston, Gemma, Scott, Nigel, Carr, Ian M, Markham, Alexander F, Whitehouse, Adrian, Coletta, P Louise
Publicado em 2013

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization

Por Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Publicado no Bioinformatics (2015)

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Por Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Publicado no PLoS One (2016)

Analysis of Gene Expression in a Human Cell Line Stably Transduced with Herpesvirus Saimiri

Por Hall, Kersten T., Giles, Mathew S., Goodwin, Delyth J., Calderwood, Michael A., Carr, Ian M., Stevenson, Alex J., Markham, Alex F., Whitehouse, Adrian
Publicado em 2000

Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme

Por Diggle, Christine P., Shires, Michael, Leitch, Derek, Brooke, David, Carr, Ian M., Markham, Alex F., Hayward, Bruce E., Asipu, Aruna, Bonthron, David T.
Publicado em 2009

Effects of EGFR Inhibitor on Helicobacter pylori Induced Gastric Epithelial Pathology in Vivo

Por Crabtree, Jean E., Jeremy, Anthony H.T., Duval, Cedric, Dixon, Michael F., Danjo, Kazuma, Carr, Ian M., Pritchard, D. Mark, Robinson, Philip A.
Publicado no Pathogens (2013)

An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas

Por Touqan, Nader, Diggle, Christine P, Verghese, Edlo T, Perry, Sarah, Horgan, Kieran, Merchant, William, Anwar, Rashida, Markham, Alexander F, Carr, Ian M, Achuthan, Rajgopal
Publicado em 2013

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndr...

Por Lynex, Clare N, Carr, Ian M, Leek, Jack P, Achuthan, Rajgopal, Mitchell, Simon, Maher, Eamonn R, Woods, C Geoffrey, Bonthon, David T, Markham, Alex F
Publicado em 2004

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Por Watson, Christopher M., Crinnion, Laura A., Berry, Ian R., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S., Dobbie, Angus, Carr, Ian M., Bonthron, David T.
Publicado no BMC Med Genet (2016)

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

Por Watson, Christopher M, Crinnion, Laura A, Murphy, Helen, Newbould, Melanie, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Sheridan, Eamonn, Bonthron, David T, Smith, Audrey
Publicado no J Med Genet (2016)

Next Generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness

Por Fiszer, Dorota, Shaw, Marie-Anne, Fisher, Nickla A., Carr, Ian M., Gupta, Pawan K., Watkins, Elizabeth J., de Sa, Daniel Roiz, Kim, Jerry H., Hopkins, Philip M.
Publicado no Anesthesiology (2015)

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

Por Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir
Publicado em 2012

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

Por Watson, Christopher M., Crinnion, Laura A., Gurgel‐Gianetti, Juliana, Harrison, Sally M., Daly, Catherine, Antanavicuite, Agne, Lascelles, Carolina, Markham, Alexander F., Pena, Sergio D. J., Bonthron, David T., Carr, Ian M.
Publicado no Hum Mutat (2015)

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Por Poulter, James A., Smith, Claire E. L., Murrillo, Gina, Silva, Sandra, Feather, Sally, Howell, Marianella, Crinnion, Laura, Bonthron, David T., Carr, Ian M., Watson, Christopher M., Inglehearn, Chris F., Mighell, Alan J.
Publicado no Mol Genet Genomic Med (2015)