H
Hayley Woffendin
Researcher at Wellcome Trust Sanger Institute
Publications - 2
Citations - 9956
Hayley Woffendin is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: PDZ domain & AMPA receptor. The author has an hindex of 2, co-authored 2 publications receiving 9328 citations. Previous affiliations of Hayley Woffendin include Wellcome Trust.
Papers
More filters
Journal ArticleDOI
Mutations of the BRAF gene in human cancer
Helen Davies,Graham R. Bignell,Charles Cox,Philip J. Stephens,Sarah Edkins,S. M. Clegg,Jon W. Teague,Hayley Woffendin,Mathew J. Garnett,William Bottomley,Neil Davis,Ed Dicks,Rebecca Ewing,Yvonne Floyd,Kristian Gray,S. Hall,Rachel Hawes,Jaime Hughes,Vivian Kosmidou,Andrew Menzies,Catherine Mould,Adrian Parker,Claire Stevens,Stephen Watt,Steven Hooper,Rebecca Wilson,Hiran Jayatilake,Barry A. Gusterson,Colin Cooper,Janet Shipley,Darren Hargrave,Kathy Pritchard-Jones,Norman J. Maitland,Georgia Chenevix-Trench,Gregory J. Riggins,Darell D. Bigner,Giuseppe Palmieri,Antonio Cossu,Adrienne M. Flanagan,Andrew G. Nicholson,Judy W. C. Ho,Suet Yi Leung,Siu Tsan Yuen,Barbara L. Weber,Hilliard F. Seigler,Timothy L. Darrow,Hugh Paterson,Richard Marais,Christopher J. Marshall,Richard Wooster,Michael R. Stratton,P. Andrew Futreal +51 more
TL;DR: BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers, with a single substitution (V599E) accounting for 80%.
Journal ArticleDOI
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
Patrick S. Tarpey,Josep Parnau,Matthew J. Blow,Hayley Woffendin,Graham R. Bignell,Charles Cox,James J. Cox,Helen Davies,Sarah Edkins,Simon Holden,Angelique Korny,Uma Mallya,Jenny Moon,Sarah O’Meara,Adrian Parker,Philip J. Stephens,Claire Stevens,Jon W. Teague,A. Donnelly,A. Donnelly,Marie Mangelsdorf,Marie Mangelsdorf,John C. Mulley,John C. Mulley,Michael Partington,Gillian Turner,Roger E. Stevenson,Charles E. Schwartz,Ian Young,Douglas F. Easton,Martin Bobrow,P. Andrew Futreal,Michael R. Stratton,Jozef Gecz,Jozef Gecz,Richard Wooster,F. Lucy Raymond +36 more
TL;DR: The disruption of NMDA receptor targeting or signaling, as a result of the loss of SAP102, may lead to altered synaptic plasticity and may explain the intellectual impairment observed in individuals with DLG3 mutations.