S
Samantha Allen
Researcher at University of Sheffield
Publications - 2
Citations - 29
Samantha Allen is an academic researcher from University of Sheffield. The author has contributed to research in topics: Enhancer. The author has an hindex of 2, co-authored 2 publications receiving 7 citations.
Papers
More filters
Journal ArticleDOI
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
Johnathan Cooper-Knock,Sai Zhang,Kevin P. Kenna,Tobias Moll,John P Franklin,Samantha Allen,Helia Ghahremani Nezhad,Alfredo Iacoangeli,Nancy Y Yacovzada,Chen Eitan,Eran Hornstein,Eran Elhaik,Petra Celadova,Daniel Bose,Sali M.K. Farhan,Simon Fishilevich,Doron Lancet,Karen E. Morrison,Christopher Shaw,Ammar Al-Chalabi,Jan H. Veldink,Janine Kirby,Michael Snyder,Pamela J. Shaw +23 more
TL;DR: This work designs and applies a pipeline to identify pathogenic genetic variation within enhancer elements responsible for regulating gene expression, and proposes CAV1/CAV2 overexpression as a personalized medicine target for ALS.
Journal ArticleDOI
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as a New ALS Risk Gene
Johnathan Cooper-Knock,Sai Zhang,Kevin P. Kenna,Tobias Moll,John P Franklin,Samantha Allen,Helia Ghahremani Nezhad,Nancy S Yacovzada,Chen Eitan,Eran Hornstein,Eran Elhaik,Petra Celadova,Daniel Bose,Sali M.K. Farhan,Simon Fishilevich,Doron Lancet,Karen E. Morrison,Christopher Shaw,Ammar Al-Chalabi,Jan H. Veldink,Janine Kirby,Michael Snyder,Pamela J. Shaw +22 more
TL;DR: Applying a new pipeline to identify pathogenic genetic variation within enhancer-elements responsible for regulating gene expression, disease-associated variation within CAV1/CAV2 enhancers is discovered and proposed as a personalised medicine target for ALS.