Search Results - Hélène Dreau

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  1. 1
    Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults

    Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults by Alice E. Gallienne, Hélène Dreau, Anna Schuh, Julie M. Old, Shirley Henderson

    Published 2011
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  2. 2
    Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia

    Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia by Samantha J.L. Knight, Christopher Yau, Ruth Clifford, Adele Timbs, Elham Sadighi Akha, Hélène Dreau, Adam Burns, Cristian Ciria, David Oscier, Andrew R. Pettitt, Susan Dutton, Chris Holmes, Jenny C. Taylor, Jean‐Baptiste Cazier, Anna Schuh

    Published 2012
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  3. 3
    Quiescent leukaemic cells account for minimal residual disease in childhood lymphoblastic leukaemia

    Quiescent leukaemic cells account for minimal residual disease in childhood lymphoblastic leukaemia by Christoph Lutz, Petter Woll, Georgina Hall, Anders Castor, Hélène Dreau, Giovanni Cazzaniga, Jan Zuna, C. E. Jensen, Sally A. Clark, Andrea Biondi, Chris Mitchell, Helen Ferry, Anna Schuh, Veronica J. Buckle, Sten Eirik W. Jacobsen, Tariq Enver

    Published 2012
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  4. 4
    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom by Katharina Schwarze, James Buchanan, Jilles M. Fermont, Hélène Dreau, Mark Tilley, John Taylor, Pavlos Antoniou, Samantha J.L. Knight, Carme Camps, Melissa M. Pentony, Erika Kvikstad, Steve Harris, Niko Popitsch, Alistair T. Pagnamenta, Anna Schuh, Jenny C. Taylor, Sarah Wordsworth

    Published 2019
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  5. 5
    Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals

    Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals by Dimitris Vavoulis, Anthony Cutts, Nishita Thota, J. Howard Brown, R. Sugar, Antonio Rueda, Arman Ardalan, Kieran Howard, Flavia Matos Santo, Thippesh Sannasiddappa, Bronwen Miller, Stephen Ash, Yibin Liu, Chun‐Xiao Song, Brian D Nicholson, Hélène Dreau, Carolyn Tregidgo, Anna Schuh

    Published 2025
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  6. 6
    Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia

    Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia by Jenny Klintman, Niamh Appleby, Basile Stamatopoulos, Katie Ridout, Toby A. Eyre, Pauline Robbe, Laura Lopez Pascua, Samantha J.L. Knight, Hélène Dreau, Maité Cabes, Niko Popitsch, Mats Ehinger, José I. Martín‐Subero, Elı́as Campo, Robert Månsson, Davide Rossi, Jenny C. Taylor, Dimitrios V. Vavoulis, Anna Schuh

    Published 2020
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  7. 7
    Diagnosing Burkitt Lymphoma in Sub-Saharan Africa by Sequencing of Circulating Tumor DNA: A Comparative Microcosting Study

    Diagnosing Burkitt Lymphoma in Sub-Saharan Africa by Sequencing of Circulating Tumor DNA: A Comparative Microcosting Study by Liz Morrell, Malale Tungu, Caroline Achola, Ismail D. Legason, Erick Magorosa, Priscus Mapendo, Leah Mnango, Alex Mremi, Heavenlight Christopher, Emmanuel Josephat, Adam Burns, Hélène Dreau, Mihaela Leonte, Lulu Chirande, Salama Mahawi, Elifuraha Mkwizu, Hadija Mwamtemi, Godlove Sandi, Claire El Mouden, Anna Schuh, George Mugambage Ruhago, Sarah Wordsworth

    Published 2025
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  8. 8
    Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups

    Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups by Adam Burns, Reem Alsolami, Jennifer Becq, Basile Stamatopoulos, Adele Timbs, Dara Bruce, Pauline Robbe, Dimitris Vavoulis, Ruth Clifford, Maité Cabes, Hélène Dreau, Jenny C. Taylor, Samantha J.L. Knight, Robert Månsson, D. R. Bentley, Renée Beekman, José I. Martı́n-Subero, Elı́as Campo, Richard S. Houlston, Kate Ridout, Anna Schuh

    Published 2017
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  9. 9
    The Light Chain IgLV3-21 Defines a New Poor Prognostic Subgroup in Chronic Lymphocytic Leukemia: Results of a Multicenter Study

    The Light Chain IgLV3-21 Defines a New Poor Prognostic Subgroup in Chronic Lymphocytic Leukemia: Results of a Multicenter Study by Basile Stamatopoulos, Tom Smith, Emerence Crompot, Karlien Pieters, Ruth Clifford, Marek Mráz, Pauline Robbe, Adam Burns, Adele Timbs, David Bruce, Peter Hillmen, Nathalie Meuleman, Philippe Mineur, Radu Firescu, Marie Maerevoet, Virginie De Wilde, André Efira, Jan Philippé, Bruno Verhasselt, Fritz Offner, David Sims, Andreas Heger, Hélène Dreau, Anna Schuh

    Published 2018
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  10. 10
    A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

    A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias by Noémi Roy, Edward A. Wilson, Shirley Henderson, Katherine Wray, Christian Babbs, Steven Okoli, Wale Atoyebi, Avery Mixon, Mary R. Cahill, Peter Carey, Jonathan Cullis, Julie Curtin, Hélène Dreau, David Ferguson, Brenda Gibson, Georgina Hall, Joanne Mason, Mary Morgan, Melanie Proven, Amrana Qureshi, Joaquín Sánchez‐Garcia, Nongnuch Sirachainan, Juliana Teo, Ulf Tedgård, Douglas R. Higgs, David J. Roberts, Irene Roberts, Anna Schuh

    Published 2016
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  11. 11
    Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

    Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening by Ryan M. Baxley, Wendy Leung, Megan Schmit, Jacob P. Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Hélène Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja‐Katrin Bielinsky

    Published 2021
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  12. 12
    SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

    SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage by Ruth Clifford, Tania Louis, Pauline Robbe, Sam Ackroyd, Adam Burns, Adele Timbs, Glen Wright Colopy, Hélène Dreau, François Sigaux, Jean Gabriel Judde, Margalida Rotger, Amalio Telenti, Yea-Lih Lin, Philippe Pasero, Jonathan Maelfait, Michalis K. Titsias, D. Cohen, Shirley J. Henderson, Mark T. Ross, David L. Bentley, Peter Hillmen, Andrew R. Pettitt, Jan Rehwinkel, Samantha J.L. Knight, Jenny C. Taylor, Yanick J. Crow, Monsef Benkirane, Anna Schuh

    Published 2013
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  13. 13
    Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

    Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project by 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, Maité Cabes, Sara D.C. Ramos, Suzanne Page, Hélène Dreau, Kate Ridout, J. Louise Jones, Alice Tuff-Lacey, Shirley Henderson, Joanne Mason, Francesca M. Buffa, Clare Verrill, David Maldonado‐Pérez, Ioannis Roxanis, Elena Collantes, Lisa Browning, Sunanda Dhar, Stephen Damato, S. J. Davies, Mark J. Caulfield, David Bentley, Jenny C. Taylor, Clare Turnbull, Anna Schuh

    Published 2018
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  14. 14
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease by Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Hélène Dreau, Melissa M. Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean‐Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus‐Michael Debatin, Richard Redon, Stéphane Bézieau, Brigitte Bressac–de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot‐Bonnemains, Richard J. Kahnoski, Anne‐Paule Gimenez‐Roqueplo, Holger Cario, Betty Gardie

    Published 2018
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  15. 15
    Targeted Next-Generation Sequencing of Cell-Free DNA to Detect <i>MYC</i> -Immunoglobulin Translocation and Epstein-Barr Virus DNA in Plasma of Burkitt Lymphoma Patients in East Africa

    Targeted Next-Generation Sequencing of Cell-Free DNA to Detect <i>MYC</i> -Immunoglobulin Translocation and Epstein-Barr Virus DNA in Plasma of Burkitt Lymphoma Patients in East Af... by Clara Chamba, Daisy Jennings, Rehema Shungu, Heavenlight Christopher, Emmanuel Josephat, Kieran Howard, Hélène Dreau, Adam Burns, William Frank Mawalla, Priscus Mapendo, Leah Mnango, Ismail D. Legason, Edrick Elias, Caroline Achola, Anthony Cutts, Emmanuel Balandya, Anna Schuh, Jacqueline Kamanga, Kristin Schroeder, Paul Ntemi, Julius Sseruyange, Alisen Ayitwala, Alex Mremi, Atukuzwe Kahakwa, Daniel Mbwambo, Elifuraha Mkwizu, Oliver Henke, Philomena Goodluck, Hadija Nabalende, Isaac Otim, Martin D. Ogwang, Pamela Atim, Erick Marogosa, Faraja Chiwanga, Godlove Sandi, Hadija Mwamtemi, Lulu Chirande, Patricia Scanlan, Salama Mahawi, George Mugambage Ruhago, Liberata Mwita, Malale Tungu, Raphael Zozimus Sangeda, Sam M. Mbulaiteye, Claire El Moulden, Dimitris Vavoulis, Jingjing Jiang, Kate Ridout, Laura Lopez Pascua, Liz Morrell, Mihaela Leonte, Sarah Wordsworth

    Published 2025
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  16. 16
    Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

    Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features by Pauline Robbe, Kate Ridout, Dimitrios V. Vavoulis, Hélène Dreau, Ben Kinnersley, Nicholas Denny, Daniel Chubb, Niamh Appleby, Anthony Cutts, Alex J. Cornish, Laura Lopez-Pascua, Ruth Clifford, Adam Burns, Basile Stamatopoulos, Maité Cabes, Reem Alsolami, Pavlos Antoniou, Melanie Oates, Doriane Cavalieri, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, M. J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sean Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, Scott Wood, James M. Allan, Garry Bisshopp, Stuart J. Blakemore, Jacqueline Boultwood, David Bruce, Francesca M. Buffa, Andrea G.S. Buggins, Gerald M. Cohen, Kate Cwynarski, Claire Dearden, Richard Dillon, Sarah Ennis, Francesco Falciani, George Follows, Francesco Forconi, Jade Forster, Christopher P. Fox, John G. Gribben, Anna Hockaday, Dena Howard, Andrew Jackson, Nagesh Kalakonda, Umair Khan, Philip Law

    Published 2022
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  17. 17
    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, John Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schweßinger, Jim R. Hughes, Gerton Lunter, Hélène Dreau, Matteo P. Ferla, Lukas Lange, Yeşim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Banos‐Pinero, David Beeson, Tal Ben‐Ami, David Bennett, Celeste Bento, Edward Blair, Charlotte Brasch‐Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Dong Yin, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg A. Holländer, M K Javaid, Maureen A. Kane, Déirdre Kelly, Dominic F. Kelly, Samantha J.L. Knight, Alexandra Y. Kreins, Erika Kvikstad, Craig B. Langman, Tracy Lester, Kate E Lines, Simon Lord, Xin Lü, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian D. Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlčochová, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Christopher W. Pugh, Abolfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R.F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven A. Wall, Jing Wang, Hugh Watkins, Jaroslav Žák, Anna Schuh, Usha Kini, Andrew O.M. Wilkie, Niko Popitsch, Jenny C. Taylor

    Published 2023
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