S
Sue Hill
Researcher at NHS England
Publications - 16
Citations - 872
Sue Hill is an academic researcher from NHS England. The author has contributed to research in topics: Medicine & Asymptomatic. The author has an hindex of 5, co-authored 12 publications receiving 560 citations. Previous affiliations of Sue Hill include National Health Service.
Papers
More filters
Journal ArticleDOI
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull,Richard H Scott,Ellen Thomas,Louise Jones,N. Murugaesu,Freya Boardman Pretty,Dina Halai,Emma L. Baple,C. E. H. Craig,Angela Hamblin,Shirley Henderson,Christine Patch,Christine Patch,Amanda O’Neill,Andrew D. Devereau,Katherine R. Smith,Antonio Rueda Martin,Alona Sosinsky,Ellen M. McDonagh,Razvan Sultana,Michael J. Mueller,Damian Smedley,Adam Toms,Lisa Dinh,Tom Fowler,Mark Bale,Tim Hubbard,Augusto Rendon,Sue Hill,Mark J. Caulfield +29 more
TL;DR: Genomics England’s ambitious plans to embed genomic medicine into routine patient care are well underway and Clare Turnbull and colleagues discuss its progress.
Journal ArticleDOI
Integrating Genomics into Healthcare: A Global Responsibility
Zornitza Stark,Lena Dolman,Teri A. Manolio,Brad Ozenberger,Sue Hill,Mark J. Caulfied,Yves Levy,David Glazer,Julia Wilson,Mark Lawler,Tiffany Boughtwood,Jeffrey Braithwaite,Peter Goodhand,Ewan Birney,Kathryn N. North +14 more
TL;DR: This work reviews the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provides a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.
The 100,000 Genomes Project Protocol
Mark J. Caulfield,Jim Davies,Martin Dennys,Leila Elbahy,Tom Fowler,Sue Hill,Tim Hubbard,Luke Jostins,Nick Maltby,Jeanna Mahon-Pearson,Gil McVean,Katrina Nevin-Ridley,Matthew O. Parker,Vivienne Parry,Augusto Rendon,Laura Riley,Clare Turnbull,Kerrie Woods +17 more
TL;DR: The 100,000 Genomes Project (100GGP) as discussed by the authors is a protocol for the development, delivery, and operation of the 100Gomes Project, which is an open-source project.
Journal ArticleDOI
Significant Reduction in Central Venous Catheter-related Bloodstream Infections in Children on HPN After Starting Treatment With Taurolidine Line Lock
TL;DR: Taurolidine line lock was associated with a decreased incidence of catheter-related bloodstream infections, and this finding supports its use in patients with a history of septicemia on treatment with cyclical PN.
Journal ArticleDOI
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibáñez,James M. Polke,R. Tanner Hagelstrom,Egor Dolzhenko,Dorota Pasko,Ellen R A Thomas,Louise C. Daugherty,Dalia Kasperaviciute,Katherine R. Smith,Zandra C. Deans,Sue Hill,Tom Fowler,Richard T. Scott,John Hardy,Patrick F. Chinnery,Henry Houlden,Augusto Rendon,Mark J. Caulfield,Michael A. Eberle,Ryan J. Taft,Arianna Tucci,J. Ambrose,Prabhu Arumugam,Marta Bleda,Freya Boardman-Pretty,Jean-Marie Boissiere,Chris Boustred,C. E. H. Craig,Anna de Burca,Andrew D. Devereau,Greg Elgar,Rebecca E. Foulger,Pedro Furió-Tarí,J. Hackett,Dina Halai,Angela Hamblin,Shirley Henderson,J. Holman,Tim Hubbard,R. Jackson,L. J. Jones,Melis Kayikci,L. Lahnstein,K. Lawson,Sarah Leigh,I. Leong,Javier Fernández López,Fiona Maleady-Crowe,Joanne Mason,M. Mueller,Nirupa Murugaesu,Christopher A. Odhams,Daniel Perez-Gil,Dimitris Polychronopoulos,John Pullinger,T. Rahim,Pablo Riesgo-Ferreiro,Tim Rogers,Mina Ryten,Kevin Savage,K. Sawant,Afshan Siddiq,A. Sieghart,Damian Smedley,Alona Sosinsky,William Spooner,H. E. Stevens,Alexander Stuckey,Razvan Sultana,Simon G. Thompson,Carolyn Tregidgo,E. Walsh,Sarah A. Watters,M. Welland,Eleanor Williams,K. Witkowska,S. Wood,Magdalena Zarowiecki +77 more
TL;DR: In this study, whole genome sequencing for the detection of repeat expansions showed high sensitivity and specificity, and it led to identification of neurological repeat expansion disorders in previously undiagnosed patients.