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

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

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

by Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill
Published 2014-09-01

Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

by Jayaram Vijayakrishnan, James Studd, Peter Broderick, Ben Kinnersley, Amy Holroyd, Philip J. Law, Rajiv Kumar, James M. Allan, Christine J. Harrison, Anthony V. Moorman, Ajay Vora, Eve Roman, Sivaramakrishna Rachakonda, Sally E. Kinsey, Eamonn Sheridan, Pamela D. Thompson, Julie A. Irving, Rolf Koehler, Per Hoffmann, Markus M. Nöthen, Stefanie Heilmann-Heimbach, Karl-Heinz Jöckel, Douglas F. Easton, Paul D. P. Pharaoh, Alison M. Dunning, Julian Peto, Frederico Canzian, Anthony Swerdlow, Rosalind A. Eeles, ZSofia Kote-Jarai, Kenneth Muir, Nora Pashayan, The PRACTICAL Consortium, Mel Greaves, Martin Zimmerman, Claus R. Bartram, Martin Schrappe, Martin Stanulla, Kari Hemminki, Richard S. Houlston
Published 2018-04-01

Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

by Jayaram Vijayakrishnan, James Studd, Peter Broderick, Ben Kinnersley, Amy Holroyd, Philip J. Law, Rajiv Kumar, James M. Allan, Christine J. Harrison, Anthony V. Moorman, Ajay Vora, Eve Roman, Sivaramakrishna Rachakonda, Sally E. Kinsey, Eamonn Sheridan, Pamela D. Thompson, Julie A. Irving, Rolf Koehler, Per Hoffmann, Markus M. Nöthen, Stefanie Heilmann-Heimbach, Karl-Heinz Jöckel, Douglas F. Easton, Paul D. P. Pharaoh, Alison M. Dunning, Julian Peto, Frederico Canzian, Anthony Swerdlow, Rosalind A. Eeles, Zsofia Kote-Jarai, Kenneth Muir, Nora Pashayan, The PRACTICAL consortium, Mel Greaves, Martin Zimmerman, Claus R. Bartram, Martin Schrappe, Martin Stanulla, Kari Hemminki, Richard S. Houlston
Published 2019-01-01