Noémi Roy

ORCID: 0000-0002-0919-0790
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About
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Research Areas
  • Hemoglobinopathies and Related Disorders
  • Erythrocyte Function and Pathophysiology
  • Iron Metabolism and Disorders
  • RNA modifications and cancer
  • Blood groups and transfusion
  • Genomics and Rare Diseases
  • Blood disorders and treatments
  • Genetic factors in colorectal cancer
  • Immunodeficiency and Autoimmune Disorders
  • Cancer-related gene regulation
  • Blood transfusion and management
  • Neonatal Health and Biochemistry
  • Acute Myeloid Leukemia Research
  • Genomic variations and chromosomal abnormalities
  • Single-cell and spatial transcriptomics
  • Blood properties and coagulation
  • Cystic Fibrosis Research Advances
  • Trace Elements in Health
  • RNA and protein synthesis mechanisms
  • Pancreatic function and diabetes
  • Myeloproliferative Neoplasms: Diagnosis and Treatment
  • Infectious Diseases and Tuberculosis
  • Spondyloarthritis Studies and Treatments
  • Hematopoietic Stem Cell Transplantation
  • CRISPR and Genetic Engineering

Oxford University Hospitals NHS Trust
2018-2025

University of Oxford
2016-2025

MRC Weatherall Institute of Molecular Medicine
2016-2025

John Radcliffe Hospital
2016-2025

National Health Service
2019-2024

Oxford BioMedica (United Kingdom)
2018-2023

Churchill Hospital
2017-2023

NHS Blood and Transplant
2016-2022

National Institute for Health Research
2020-2021

Centre Hospitalier de l’Université de Montréal
2020-2021

Ernest Turro William J. Astle Karyn Mégy Stefan Gräf Daniel Greene and 95 more Olga Shamardina Hana Lango Allen Alba Sanchis‐Juan Mattia Frontini Chantal Thys Jonathan Stephens Rutendo Mapeta Oliver S. Burren Kate Downes Matthias Haimel Salih Tuna Sri V. V. Deevi Timothy J. Aitman David Bennett Paul Calleja Keren Carss Mark J. Caulfield Patrick F. Chinnery Peter Dixon Daniel P. Gale Roger James Ania Koziell Michael Laffan Adam P. Levine Eamonn R. Maher Hugh S. Markus Joannella Morales Nicholas W. Morrell Andrew Mumford Elizabeth Ormondroyd Stuart Rankin Augusto Rendon Sylvia Richardson Irene Roberts Noémi Roy Moin A. Saleem Kenneth G. C. Smith Hannah Stark Rhea Tan Andreas C. Themistocleous Adrian J. Thrasher Hugh Watkins Andrew R. Webster Martin R. Wilkins Catherine Williamson James Whitworth Sean Humphray David Bentley Stephen Abbs Lara Abulhoul Julian Adlard Munaza Ahmed Timothy J. Aitman Hana Alachkar David Allsup J. P. Almeida Philip Ancliff Richard Antrobus Ruth Armstrong Gavin Arno Sofie Ashford William J. Astle Anthony Attwood Paul Aurora Christian Babbs Chiara Bacchelli Tamam Bakchoul Siddharth Banka Tadbir K. Bariana Julian Barwell Joana Batista Helen Baxendale Phil Beales David Bennett David Bentley Agnieszka Bierżyńska Tina Biss Maria Bitner‐Glindzicz Graeme Black Marta Bleda Iulia Blesneac Detlef Böckenhauer Harm Jan Bogaard Christian Bourne Sara Boyce John R. Bradley Eugene Bragin Gerome Breen Paul Brennan Carole Brewer Matthew A. Brown Andrew C. Browning Michael J. Browning Rachel Buchan Matthew Buckland

10.1038/s41586-020-2434-2 article EN Nature 2020-06-24
Alistair T. Pagnamenta Carlos Camps Edoardo Giacopuzzi John Taylor Mona Hashim and 92 more Eduardo Calpena Pamela J. Kaisaki Akiko Hashimoto Jing Yu Edward Sanders Ron Schweßinger Jim R. Hughes Gerton Lunter Hélène Dreau Matteo P. Ferla L F De 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

Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, diagnostic yields many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25–30%. This part because although entire genomes sequenced, analysis confined to silico gene panels or coding regions genome. Methods We undertook WGS on cohort 122 unrelated disease and their relatives (300 genomes) who had been pre-screened by...

10.1186/s13073-023-01240-0 article EN cc-by Genome Medicine 2023-11-09

Regulation of macrophage capacity to remove apoptotic cells may control the balance and necrotic leukocytes at inflamed foci extent leukocyte-mediated tissue damage. Although molecules involved in phagocytic process are beginning be defined, little is known about underlying regulatory signaling mechanisms controlling this process. In paper, we have investigated effects treatment human monocyte-derived macrophages with PGs other agents that elevate intracellular cAMP on phagocytosis. PGE2...

10.4049/jimmunol.160.7.3562 article EN The Journal of Immunology 1998-04-01

Accurate diagnosis of rare inherited anaemias is challenging, requiring a series complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection genes on individual panels narrow validation strategies have fallen short standards required for clinical use. Clinical-grade negative results requires test distinguish between lack adequate sequencing reads at locations known mutations real absence mutations. To...

10.1111/bjh.14221 article EN cc-by British Journal of Haematology 2016-07-19

The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease national health system to streamline diagnosis and discover unknown aetiological variants the coding non-coding regions of genome. WGS identified genetic 1138/7065 extensively phenotyped participants. They 95 genes which mutations were very likely be cause Mendelian disease.

10.1530/ey.18.14.6 article EN Yearbook of pediatric endocrinology 2021-09-15

Summary Antenatal screening/testing of pregnant women should be carried out according to the guidelines National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow‐up testing referral, NHS All babies under 1 year age arriving in United Kingdom offered for sickle cell disease (SCD). Preoperative SCD patients from ethnic groups which there is a significant prevalence condition. Emergency with solubility test must always followed...

10.1111/bjh.18794 article EN British Journal of Haematology 2023-04-19

Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE is due a point mutation in codon 26 the human HBB gene on one allele (GAG; glutamatic acid → AAG; lysine, E26K), and any causing other. When inherited together compound heterozygosity these mutations can cause thalassaemic phenotype. However, if only mutated individuals are carriers for respective have an asymptomatic phenotype (β-thalassaemia...

10.1038/s41467-023-37604-8 article EN cc-by Nature Communications 2023-04-19

Transfusion-dependent myelodysplastic (MDS) patients are prone to iron overload. We evaluated 43 transfused MDS with T2* magnetic resonance imaging scans. 81% had liver and 16·8% cardiac Liver R2* (1000/T2*), but not R2*, was correlated number of units (r=0·72, P<0·0001) ferritin (r=0·53, P<0·0001). The area under the curve a time-ferritin plot found be much greater in loading (median 53·7x10(5) Megaunits vs. 12·2x10(5) Megaunits, P=0·002). HFE, HFE2, HAMP or SLC40A1 genotypes were...

10.1111/j.1365-2141.2011.08749.x article EN British Journal of Haematology 2011-06-21

Significance Blood is routinely tested for gas-carrying capacity (total hemoglobin), but this cannot determine the speed at which red blood cells (RBCs) exchange gases. Such information critical evaluating physiological fitness of RBCs, have very limited capillary transit times (&lt;1 s) turning over substantial volumes gas. We developed a method to quantify gas in individual RBCs and used it show that restricted diffusion, imposed by hemoglobin crowding, major barrier flows. Consequently,...

10.1073/pnas.1916641117 article EN cc-by Proceedings of the National Academy of Sciences 2020-04-22

Prostate cancer (PC) is the most frequently diagnosed in North American men. Pathologists are critical need of accurate biomarkers to characterize PC, particularly confirm presence intraductal carcinoma prostate (IDC-P), an aggressive histopathological variant for which therapeutic options now available. Our aim was identify IDC-P with Raman micro-spectroscopy (RμS) and machine learning technology following a protocol suitable routine clinical histopathology laboratories.

10.1371/journal.pmed.1003281 article EN cc-by PLoS Medicine 2020-08-14

During tubo-ovarian high-grade serous carcinoma (HGSC) progression, tumoral cells undergo phenotypic changes in their epithelial marker profiles, which are essential for dissemination processes. Here, we set out to determine whether standard markers can predict HGSC patient prognosis. Levels of E-CADH, KRT7, KRT18, KRT19 were quantified 18 cell lines by Western blot and a Discovery cohort tissue microarray (TMA) (n = 101 patients) using immunofluorescence. E-CADH KRT7 levels subsequently...

10.3390/ijms22105325 article EN International Journal of Molecular Sciences 2021-05-18

METHODOLOGY The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but which degree of consensus or uniformity likely be beneficial patient care. Grading Recommendations Assessment, Development and Evaluation (GRADE) nomenclature was used evaluate levels assess the strength recommendations. GRADE criteria can found at http://www.gradeworkinggroup.org. This Paper produced as collaboration with European...

10.1097/hs9.0000000000000739 article EN cc-by-nc-nd HemaSphere 2022-06-01

Many children leave the PICU with anemia. The mechanisms of post-PICU anemia are poorly investigated, and treatment anemia, other than blood, is rarely started during PICU. We aimed to characterize contributions iron depletion (ID) and/or inflammation in development explore utility hepcidin (a novel marker) at detecting ID inflammation.

10.1097/pcc.0000000000003442 article EN Pediatric Critical Care Medicine 2024-02-15

Red blood cell development from erythroid progenitors requires profound reshaping of metabolism and gene expression. How these transcriptional metabolic alterations are coupled is unclear. Nprl3 (an inhibitor mTORC1) has remained in synteny with the α-globin genes for >500 million years, harbours most a-globin enhancers. However, whether serves an role unknown. We found that while haematopoietic require basal expression, expression further boosted by This lineage-specific upregulation...

10.1038/s41467-025-57683-z article EN cc-by Nature Communications 2025-03-24
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