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Rebecca Shepherd
Researcher at Wellcome Trust Sanger Institute
Publications - 43
Citations - 16519
Rebecca Shepherd is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Mutation & Genome. The author has an hindex of 27, co-authored 36 publications receiving 14264 citations. Previous affiliations of Rebecca Shepherd include Wellcome Trust.
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Journal ArticleDOI
Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus
F. Lucy Raymond,Patrick S. Tarpey,Sarah Edkins,Calli Tofts,Sarah O’Meara,Jon W. Teague,Adam Butler,Claire Stevens,Syd Barthorpe,Gemma Buck,Jennifer Cole,Ed Dicks,Kristian Gray,Kelly Halliday,Katy Hills,Jonathon Hinton,David T. Jones,Andrew Menzies,Janet Perry,Keiran Raine,Rebecca Shepherd,Alexandra Small,Jennifer Varian,Sara Widaa,Uma Mallya,Jenny Moon,Ying Luo,Marie Shaw,Marie Shaw,Jackie Boyle,Bronwyn Kerr,Gillian Turner,Oliver Quarrell,Trevor Cole,Douglas F. Easton,Richard Wooster,Martin Bobrow,Charles E. Schwartz,Jozef Gecz,Michael R. Stratton,P. Andrew Futreal +40 more
TL;DR: This is the first XLMR gene to be reported that encodes a posttranslational modification enzyme, palmitoyltransferase, and it suggests that alterations in the concentrations and cellular distribution of target proteins are sufficient to cause disease.
Journal ArticleDOI
Agreement between two large pan-cancer CRISPR-Cas9 gene dependency data sets.
Joshua M. Dempster,Clare Pacini,Sasha Pantel,Fiona M. Behan,Thomas M Green,John M. Krill-Burger,Charlotte M. Beaver,Scott T. Younger,Victor A. Zhivich,Hanna Najgebauer,Felicity Allen,Emanuel Gonçalves,Rebecca Shepherd,John G. Doench,Kosuke Yusa,Kosuke Yusa,Francisca Vazquez,Leopold Parts,Leopold Parts,Jesse S. Boehm,Todd R. Golub,Todd R. Golub,William C. Hahn,William C. Hahn,David E. Root,Mathew J. Garnett,Aviad Tsherniak,Francesco Iorio +27 more
TL;DR: The authors show that the two largest independent CRISPR-Cas9 gene-dependency screens are concordant, paving the way for joint analysis of the data sets.
Journal ArticleDOI
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.
Graham R. Bignell,Raffaella Smith,Christopher I. Hunter,Philip J. Stephens,Helen Davies,Christopher Greenman,Jon W. Teague,Adam Butler,Sarah Edkins,Claire Stevens,Sarah O’Meara,Adrian Parker,Tim Avis,Syd Barthorpe,Lisa Brackenbury,Gemma Buck,Jody Clements,Jennifer Cole,Ed Dicks,Ken Edwards,Simon A. Forbes,Matthew Gorton,Kristian Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Jonathon Hinton,David T. Jones,Vivienne Kosmidou,Ross Laman,Richard Lugg,Andrew Menzies,Janet Perry,Robert Petty,Keiran Raine,Rebecca Shepherd,Alexandra Small,Helen Solomon,Yvonne Stephens,Calli Tofts,Jennifer Varian,Anthony Webb,Sofie West,Sara Widaa,Andrew D. Yates,Ad J. M. Gillis,Hans Stoop,Ruud J.H.L.M. van Gurp,J. Wolter Oosterhuis,Leendert H. J. Looijenga,P. Andrew Futreal,Richard Wooster,Michael R. Stratton,Michael R. Stratton +53 more
TL;DR: The results do not provide evidence for a mutated protein kinase implicated in the development of TGCT other than KIT, and it is demonstrated that the general prevalence of point mutations in TGCT is low, in contrast to the high frequency of copy number changes.
Journal ArticleDOI
Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation
Patrick S. Tarpey,Claire Stevens,Jon W. Teague,Sarah Edkins,Sarah O’Meara,Tim Avis,Syd Barthorpe,Gemma Buck,Adam Butler,Jennifer Cole,Ed Dicks,Kristian Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Jonathon Hinton,David T. Jones,Andrew Menzies,Tatiana Mironenko,Janet Perry,Keiran Raine,David S. Richardson,Rebecca Shepherd,Alexandra Small,Calli Tofts,Jennifer Varian,Sofie West,Sara Widaa,Andrew D. Yates,Rachael Catford,Julia Butler,Uma Mallya,Jenny Moon,Ying Luo,Huw Dorkins,Deborah J. Thompson,Douglas F. Easton,Richard Wooster,Martin Bobrow,N. J. Carpenter,Richard J. Simensen,Charles E. Schwartz,Roger E. Stevenson,Gillian Turner,Michael Partington,Jozef Gecz,Michael R. Stratton,P. Andrew Futreal,F. Lucy Raymond +48 more
TL;DR: Aberrant endocytic processing through disruption of adaptor protein complexes is likely to result from the AP1S2 mutations identified in the three XLMR-affected families, and such defects may plausibly cause abnormal synaptic development and function.
Journal ArticleDOI
Unsupervised correction of gene-independent cell responses to CRISPR-Cas9 targeting
Francesco Iorio,Francesco Iorio,Fiona M. Behan,Emanuel Gonçalves,Shriram G. Bhosle,Elisabeth Chen,Rebecca Shepherd,Charlotte M. Beaver,Rizwan Ansari,Rachel Pooley,Piers Wilkinson,Sarah Harper,Adam Butler,Euan A. Stronach,Julio Saez-Rodriguez,Kosuke Yusa,Mathew J. Garnett +16 more
TL;DR: It is demonstrated that CRISPRcleanR reduces false positives when calling essential genes, correcting biases within and outside of amplified regions, while maintaining true positive rates.