Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
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 in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
Get full text
Journal Article
Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan
Ingoe, Lorna, Potter, Aimee, Musson, Susan, Neely, Dermot, Pilkington, Guy, Allen, A. Joy, Reay, Danielle, Luvai, Ahai, McAnulty, Ciaron, Camm, Nick, Berry, Ian, Nichols, Jody, Forbes, Gareth, Newton, Julia, Carey, Peter E.
Published in Atherosclerosis (01.05.2021)
Published in Atherosclerosis (01.05.2021)
Get full text
Journal Article
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
Watson, Christopher M., Crinnion, Laura A., Lindsay, Helen, Mitchell, Rowena, Camm, Nick, Robinson, Rachel, Joyce, Caroline, Tanteles, George A., Halloran, Domhnall J. O', Pena, Sergio D.J., Carr, Ian M., Bonthron, David T.
Published in Laboratory investigation (01.04.2021)
Published in Laboratory investigation (01.04.2021)
Get full text
Journal Article
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture
Watson, Christopher M., Crinnion, Laura A., Simmonds, Jennifer, Camm, Nick, Adlard, Julian, Bonthron, David T.
Published in Cancer genetics (01.08.2021)
Published in Cancer genetics (01.08.2021)
Get full text
Journal Article
Genetic diagnosis of familial breast cancer using clonal sequencing
Morgan, Joanne E, Carr, Ian M, Sheridan, Eamonn, Chu, Carol E, Hayward, Bruce, Camm, Nick, Lindsay, Helen A, Mattocks, Chris J, Markham, Alexander F, Bonthron, David T, Taylor, Graham R
Published in Human mutation (01.04.2010)
Published in Human mutation (01.04.2010)
Get full text
Journal Article
Characterization and Genomic Localization of a SMAD4 Processed Pseudogene
Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Antanaviciute, Agne, Adlard, Julian, Markham, Alexander F., Carr, Ian M., Charlton, Ruth, Bonthron, David T.
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
Published in The Journal of molecular diagnostics : JMD (01.11.2017)
Get full text
Journal Article
A high utility integrated map of the pig genome
Humphray, Sean J, Scott, Carol E, Clark, Richard, Marron, Brandy, Bender, Clare, Camm, Nick, Davis, Jayne, Jenks, Andrew, Noon, Angela, Patel, Manish, Sehra, Harminder, Yang, Fengtang, Rogatcheva, Margarita B, Milan, Denis, Chardon, Patrick, Rohrer, Gary, Nonneman, Dan, de Jong, Pieter, Meyers, Stacey N, Archibald, Alan, Beever, Jonathan E, Schook, Lawrence B, Rogers, Jane
Published in Genome Biology (11.07.2007)
Published in Genome Biology (11.07.2007)
Get full text
Journal Article
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease
Green, Lydia, Berry, Ian R, Childs, Anne-Marie, McCullagh, Helen, Jose, Sandhya, Warren, Dan, Craven, Ian, Camm, Nick, Prescott, Katrina, van der Knaap, Marjo S, Sheridan, Eamonn, Livingston, John H
Published in Neuropediatrics (01.04.2018)
Published in Neuropediatrics (01.04.2018)
Get more information
Journal Article
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
Watson, Christopher M, Crinnion, Laura A, Lindsay, Helen, Mitchell, Rowena, Camm, Nick, Robinson, Rachel, Joyce, Caroline, Tanteles, George A, Halloran, Domhnall J O', Pena, Sergio D J, Carr, Ian M, Bonthron, David T
Published in Laboratory investigation (01.04.2021)
Get full text
Published in Laboratory investigation (01.04.2021)
Journal Article
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads
Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Clokie, Samuel, Robinson, Rachel L., Adlard, Julian, Charlton, Ruth, Markham, Alexander F., Carr, Ian M., Bonthron, David T.
Published in Molecular diagnosis & therapy (01.12.2017)
Published in Molecular diagnosis & therapy (01.12.2017)
Get full text
Journal Article
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
Carr, Ian M, Camm, Nick, Taylor, Graham R, Charlton, Ruth, Ellard, Sian, Sheridan, Eamonn G, Markham, Alexander F, Bonthron, David T
Published in Journal of medical genetics (01.02.2011)
Published in Journal of medical genetics (01.02.2011)
Get full text
Journal Article