Sequence analysis and editing for bisulphite genomic sequencing projects

by Carr, Ian M., Valleley, Elizabeth M. A., Cordery, Sarah F., Markham, Alexander F., Bonthron, David T.
Published 2007

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

by Dimitriou, Rozalia, Carr, Ian M, West, Robert M, Markham, Alexander F, Giannoudis, Peter V
Published 2011

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

by Melnik, Svitlana, Deng, Binwei, Papantonis, Argyris, Baboo, Sabyasachi, Carr, Ian M., Cook, Peter R
Published 2011

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

by Fiszer, Dorota, Fisher, Nickla A, Carr, Ian M, Shaw, Marie-Anne, Hopkins, Philip M
Published 2014

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

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

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

by Antanaviciute, Agne, Daly, Catherine, Crinnion, Laura A., Markham, Alexander F., Watson, Christopher M., Bonthron, David T., Carr, Ian M.
Published 2015

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

by Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Published 2016

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

by Antanaviciute, Agne, Watson, Christopher M., Harrison, Sally M., Lascelles, Carolina, Crinnion, Laura, Markham, Alexander F., Bonthron, David T., Carr, Ian M.
Published 2015

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...

by 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
Published 2004

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

by 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
Published 2012

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

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

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

by 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
Published 2016

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

by 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.
Published 2016

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

by Crabtree, Jean E., Jeremy, Anthony H.T., Duval, Cedric, Dixon, Michael F., Danjo, Kazuma, Carr, Ian M., Pritchard, D. Mark, Robinson, Philip A.
Published 2013

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1

by Kotan, Leman Damla, Cooper, Charlton, Darcan, Şükran, Carr, Ian M., Özen, Samim, Yan, Yi, Hamedani, Mohammad K., Gürbüz, Fatih, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Akkuş, Gamze, Yüksel, Bilgin, Topaloğlu, A. Kemal, Leygue, Etienne
Published 2016

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

by 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.
Published 2015

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

by 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.
Published 2015

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

by Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir
Published 2014

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

by Watson, Christopher M, Crinnion, Laura A, Morgan, Joanne E, Harrison, Sally M, Diggle, Christine P, Adlard, Julian, Lindsay, Helen A, Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T, Taylor, Graham R, Carr, Ian M
Published 2014

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

by Khan, Kamron, Logan, Clare V., McKibbin, Martin, Sheridan, Eamonn, Elçioglu, Nursel H., Yenice, Ozlem, Parry, David A., Fernandez-Fuentes, Narcis, Abdelhamed, Zakia I.A., Al-Maskari, Ahmed, Poulter, James A., Mohamed, Moin D., Carr, Ian M., Morgan, Joanne E., Jafri, Hussain, Raashid, Yasmin, Taylor, Graham R., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Published 2012