H
Helene Dreau
Researcher at University of Oxford
Publications - 37
Citations - 1081
Helene Dreau is an academic researcher from University of Oxford. The author has contributed to research in topics: Chronic lymphocytic leukemia & Genome. The author has an hindex of 13, co-authored 34 publications receiving 772 citations. Previous affiliations of Helene Dreau include National Institute for Health Research & John Radcliffe Hospital.
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Journal ArticleDOI
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage
Ruth Clifford,Tania Louis,Pauline Robbe,Sam Ackroyd,Adam Burns,Adele Timbs,Glen Wright Colopy,Helene Dreau,François Sigaux,Jean Gabriel Judde,Margalida Rotger,Amalio Telenti,Yea-Lih Lin,Philippe Pasero,Jonathan Maelfait,Michalis K. Titsias,Dena Cohen,Shirley Henderson,Mark T. Ross,David Bentley,Peter Hillmen,Andrew R. Pettitt,Jan Rehwinkel,Samantha J. L. Knight,Jenny C. Taylor,Yanick J. Crow,Monsef Benkirane,Anna Schuh +27 more
TL;DR: Evidence is provided that SAMHD1 regulates cell proliferation and survival and engages in specific protein interactions in response to DNA damage and that the presence of SAMHD 1 mutations in CLL promotes leukemia development.
Journal ArticleDOI
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Katharina Schwarze,James M. Buchanan,James M. Buchanan,Jilles M Fermont,Helene Dreau,Mark W Tilley,Mark W Tilley,John Taylor,Pavlos Antoniou,Samantha J. L. Knight,Samantha J. L. Knight,Carme Camps,Carme Camps,Melissa M. Pentony,Melissa M. Pentony,Erika Kvikstad,Erika Kvikstad,Steve Harris,Steve Harris,Niko Popitsch,Niko Popitsch,Alistair T. Pagnamenta,Anna Schuh,Jenny C. Taylor,Jenny C. Taylor,Sarah Wordsworth,Sarah Wordsworth +26 more
TL;DR: The cost of genome sequencing is underestimated if only sequencing costs are considered, and likely surpasses $1000/genome in a single laboratory if consumable costs are considerably reduced and sequencing is performed at scale.
Journal ArticleDOI
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
Pauline Robbe,Niko Popitsch,Samantha J. L. Knight,Pavlos Antoniou,Jennifer Becq,Miao He,Alexander Kanapin,Anastasia Samsonova,Dimitrios V Vavoulis,Mark T. Ross,Zoya Kingsbury,Maite Cabes,Sara D C Ramos,Suzanne Page,Helene Dreau,Kate Ridout,Louise J. Jones,Alice Tuff-Lacey,Shirley Henderson,Joanne Mason,Francesca M. Buffa,Clare Verrill,David Maldonado-Perez,Ioannis Roxanis,Elena Collantes,Lisa Browning,Sunanda Dhar,Stephen Damato,Susan J Davies,Mark J. Caulfield,Mark J. Caulfield,David R. Bentley,Jenny C. Taylor,Clare Turnbull,Clare Turnbull,Clare Turnbull,Anna Schuh,Anna Schuh +37 more
TL;DR: The first prospective WGS study of cancer patients using FFPE specimens collected in a routine clinical environment proves WGS can be applied in the clinic, and somatic variant detection from FFPe for clinical decision making is possible.
Journal ArticleDOI
Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
TL;DR: The results indicate KLF1 mutations could make a significant contribution to Hb F variance in malarial regions where hemogobinopathies are common, and all the mutations identified were heterozygous providing further in vivo evidence that a single altered KLf1 allele is sufficient to increase HbF levels.
Journal ArticleDOI
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Noémi B. A. Roy,Edward A. Wilson,Shirley Henderson,Katherine Wray,Christian Babbs,Steven Okoli,Wale Atoyebi,Avery Mixon,Mary R. Cahill,Peter Carey,Jonathan O. Cullis,Julie Curtin,Helene Dreau,David J. P. Ferguson,Brenda Gibson,Georgina W. Hall,Joanne Mason,Mary Morgan,Melanie Proven,Amrana Qureshi,Joaquin Sanchez Garcia,Nongnuch Sirachainan,Juliana Teo,Ulf Tedgård,Doug Higgs,David Roberts,Irene Roberts,Anna Schuh +27 more
TL;DR: Using a validated NGS‐based platform for routine molecular diagnosis of previously undiagnosed congenital anaemias is feasible in a clinical diagnostic setting, improves precise diagnosis and enhances management and counselling of the patient and their family.