Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms

by George J. Burghel, Carolyn D. Hurst, Christopher M. Watson, Phillip A. Chambers, Helen Dickinson, Paul Roberts, Margaret A. Knowles
Published 2015-01-01

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

by Christopher M Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan
Published 2016-01-01

Characterizing hospital workers' willingness to respond to a radiological event.

by Ran D Balicer, Christina L Catlett, Daniel J Barnett, Carol B Thompson, Edbert B Hsu, Melinda J Morton, Natalie L Semon, Christopher M Watson, Howard S Gwon, Jonathan M Links
Published 2011-01-01

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

by Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali
Published 2014-01-01

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.

by Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan
Published 2017-01-01

A crowdsourced set of curated structural variants for the human genome.

by Lesley M Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M Watson, Christos Proukakis, Wayne E Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza E Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M Wenger, Marc Salit, Justin M Zook
Published 2020-06-01

Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease.

by Minerva M Carrasquillo, Olivia Belbin, Olivia Belbin, Fanggeng Zou, Mariet Allen, Nilufer Ertekin-Taner, Morad Ansari, Samantha L Wilcox, Mariah R Kashino, Li Ma, Linda H Younkin, Samuel G Younkin, Curtis S Younkin, Toros A Dincman, Melissa E Howard, Chanley C Howell, Chloe M Stanton, Christopher M Watson, Michael Crump, Veronique Vitart, Caroline Hayward, Nicholas D Hastie, Igor Rudan, Harry Campbell, Ozren Polasek, Kristelle Brown, Peter Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Patrick G Kehoe, David M Mann, A David Smith, Helen Beaumont, Donald Warden, Clive Holmes, Reinhard Heun, Heike Kölsch, Noor Kalsheker, V Shane Pankratz, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Alan F Wright, Steven G Younkin, Kevin Morgan
Published 2010-01-01