Publications by authors named "Noemi B A Roy"

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Anaemia management with red blood cell transfusion to improve post-intensive care disability: Protocol for the ABC post-ICU randomised controlled trial.
Timothy S Walsh, Lydia Emerson, Jo Singleton, Rachel Locherty, David Hope, Noemi B A Roy

J Intensive Care Soc· November 2025

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COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet.
Pablo Velasco Puyo, Soteroula Christou, Saveria Campisi, Maria A Rodríguez-Sánchez, Sara Reidel, Noémi B A Roy

Orphanet J Rare Dis· April 2025

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Temporal changes in erythroid progenitors in critically ill patients: a prospective cohort study.
Caroline Scott, Isabella Dale-Harris, Andrew E Armitage, Alexandra E Preston, Simon J Stanworth, Noemi B A Roy

Haematologica· March 2025

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Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Veysel Gök, Göksel Leblebisatan, Dilek Gürlek Gökçebay, Salih Güler, Muhammet Ensar Doğan, Noemi B A Roy

Br J Haematol· July 2024

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Overarching Priorities for Health and Care Research in the United Kingdom: A Coproduced Synthesis of James Lind Alliance 'Top 10s'.
Joanna C Crocker, Lucy Moore, Margaret Ogden, Sally Crowe, Maaz Khan, Noémi B A Roy

Health Expect· June 2024

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RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Danya J Martell, Hope E Merens, Alexis Caulier, Claudia Fiorini, Jacob C Ulirsch, Noémi B A Roy

Dev Cell· October 2023

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Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease.
Deena Iskander, Noémi B A Roy, Elspeth Payne, Emma Drasar, Kelly Hennessy

Blood Rev· September 2023

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Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline.
Barbara J Bain, Yvonne Daniel, Joan Henthorn, Barbara de la Salle, Amanda Hogan, Noémi B A Roy

Br J Haematol· June 2023

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Direct correction of haemoglobin E β-thalassaemia using base editors.
Mohsin Badat, Ayesha Ejaz, Peng Hua, Siobhan Rice, Weijiao Zhang, Noemi B A Roy, Andi Roy

Nat Commun· April 2023

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The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Noémi B A Roy, Lydie Da Costa, Roberta Russo, Paola Bianchi, Maria Del Mar Mañú-Pereira

Br J Haematol· August 2022

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Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.
Caroline Scott, Kerol Bartolovic, Sally-Ann Clark, Dominic Waithe, Quentin A Hill, Noémi B A Roy

Br J Haematol· July 2022

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The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.
Noémi B A Roy, Lydie Da Costa, Roberta Russo, Paola Bianchi, Maria Del Mar Mañú-Pereira

Hemasphere· June 2022

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Expanded eligibility for emerging therapies in sickle cell disease in the UK - crizanlizumab and voxelotor.
Sona M Vora, Stephen Boyd, Nicholas Denny, Elizabeth Jackson, Noemi B A Roy

Br J Haematol· May 2022

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Iron overload in inherited anaemias: why one size can't fit all.
Noémi B A Roy

Br J Haematol· January 2022

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Medical science must address health disparities amongst different ethnic groups.
Norris E Igbineweka, Nomathamsanqa Tshuma, Noémi B A Roy

Nat Hum Behav· December 2021

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Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Caroline Scott, Damien J Downes, Jill M Brown, Robert Beagrie, Aude-Anais Olijnik, Noemi B A Roy

Haematologica· November 2021

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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Hb Calgary (: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.
Georgina Martin, Runa M Grimholt, Doan Le, Anne G Bechensteen, Olav Klingenberg, Noémi B A Roy

Hemoglobin· July 2021

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Genetic and functional insights into CDA-I prevalence and pathogenesis.
Aude-Anais Olijnik, Noémi B A Roy, Caroline Scott, Joseph A Marsh, Jill Brown

J Med Genet· March 2021

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Supportive care in the management of patients with acute myeloid leukaemia: where are the research needs?
Justin Loke, David M Lowe, Laura J Miller, Suzy Morton, Noémi B A Roy

Br J Haematol· August 2020

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Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Elizabeth Ormondroyd, Noemi B A Roy

Nature· July 2020

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Single-cell O exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells.
Sarah L Richardson, Alzbeta Hulikova, Melanie Proven, Ria Hipkiss, Magbor Akanni, Noémi B A Roy

Proc Natl Acad Sci U S A· May 2020

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Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic.
Noémi B A Roy, Paul Telfer, Perla Eleftheriou, Josu de la Fuente, Emma Drasar

Br J Haematol· May 2020

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Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Noémi B A Roy, Ahmad I Zaal, Georgina Hall, Nick Wilkinson, Melanie Proven

Rheumatology (Oxford)· February 2020

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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.
Noémi B A Roy, Christian Babbs

Br J Haematol· May 2019

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