A high throughput screen for active human transposable elements

by Erika M. Kvikstad, Paolo Piazza, Jenny C. Taylor, Gerton Lunter
Published 2018-02-01

An Evaluation of the Diagnostic Accuracy of a Panel of Variants in <i>DPYD</i> and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities

by Claire Palles, Susan Fotheringham, Laura Chegwidden, Marie Lucas, Rachel Kerr, Guy Mozolowski, Dan Rosmarin, Jenny C. Taylor, Ian Tomlinson, David Kerr
Published 2021-03-01

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

by Adrian M. Shields, Adrian M. Shields, Alistair T. Pagnamenta, Andrew J. Pollard, OxClinWGS, Jenny C. Taylor, Holger Allroggen, Smita Y. Patel, Jenny C. Taylor, Samantha J. L. Knight, Alistair T. Pagnamenta, Niko Popitsch, Carme Camps, Melissa M. Pentony, Erika M. Kvikstad, Lukas Lange, Mona Hashim, Steve Harris, Mark Tilley, Dimitris Vavoulis, Pamela Kaisaki, Vassilis Ragoussis, Matteo Feral
Published 2019-06-01

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

by Grace E. Kim, Jack Kronengold, Giulia Barcia, Imran H. Quraishi, Hilary C. Martin, Edward Blair, Jenny C. Taylor, Olivier Dulac, Laurence Colleaux, Rima Nabbout, Leonard K. Kaczmarek
Published 2014-12-01

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

by Hannah E. Roberts, Maria Lopopolo, Alistair T. Pagnamenta, Eshita Sharma, Duncan Parkes, Lorne Lonie, Colin Freeman, Samantha J. L. Knight, Gerton Lunter, Helene Dreau, Helen Lockstone, Jenny C. Taylor, Anna Schuh, Rory Bowden, David Buck
Published 2021-03-01

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

by Angela Hamblin, Sarah Wordsworth, Jilles M Fermont, Suzanne Page, Kulvinder Kaur, Carme Camps, Pamela Kaisaki, Avinash Gupta, Denis Talbot, Mark Middleton, Shirley Henderson, Anthony Cutts, Dimitrios V Vavoulis, Nick Housby, Ian Tomlinson, Jenny C Taylor, Anna Schuh
Published 2017-02-01

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.

by Pamela J Kaisaki, Anthony Cutts, Niko Popitsch, Carme Camps, Melissa M Pentony, Gareth Wilson, Suzanne Page, Kulvinder Kaur, Dimitris Vavoulis, Shirley Henderson, Avinash Gupta, Mark R Middleton, Ioannis Karydis, Ioannis Karydis, Denis C Talbot, Anna Schuh, Jenny C Taylor
Published 2016-01-01

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

by Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery
Published 2020-04-01

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

by John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight
Published 2019-07-01

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

by Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery
Published 2020-07-01

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation

by Matilda A. Haas, Linh Ngo, Shan Shan Li, Sibylle Schleich, Zhengdong Qu, Hannah K. Vanyai, Hayley D. Cullen, Aida Cardona-Alberich, Ivan E. Gladwyn-Ng, Alistair T. Pagnamenta, Jenny C. Taylor, Helen Stewart, Usha Kini, Kent E. Duncan, Aurelio A. Teleman, David A. Keays, Julian I.-T. Heng
Published 2016-06-01

Sequencing of human genomes with nanopore technology

by Rory Bowden, Robert W. Davies, Andreas Heger, Alistair T. Pagnamenta, Mariateresa de Cesare, Laura E. Oikkonen, Duncan Parkes, Colin Freeman, Fatima Dhalla, Smita Y. Patel, Niko Popitsch, Camilla L. C. Ip, Hannah E. Roberts, Silvia Salatino, Helen Lockstone, Gerton Lunter, Jenny C. Taylor, David Buck, Michael A. Simpson, Peter Donnelly
Published 2019-04-01

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

by Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Published 2021-03-01

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

by Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M Zameel Cader, Sarah Hughes, Richard J E Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J L Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H Németh
Published 2012-01-01