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Journal Articles

uRADAR: European Patients Referral Frame to Improve Access to New Drugs and Therapies in Ultra-Rare Anemia Disorders and Severe Hereditary Spherocytosis

Maria A. Rodríguez Sánchez, Anna Collado Gimbert, Sara Reidel, Patricia Aguilar-Martinez, Celeste Bento, Elena Cela, Laurence Dedeken, Emma Drasar, Frederic Galacteros, Andreas Glenthoej, Monika Horvathova, Pavla Koralkova, Andreas E. Kulozik, Joachim B. Kunz, Marta Morado-Arias, Ana Ortuno Cabrero, Dagmar Pospíšilová, Minke A.E. Rab, Noemi Roy, Eduard J. Van Beers, Richard van Wijk, Sarah Wambacq, Claire Diot, Victoria Gutiérrez Valle, Raquel Mosull del Campo, Stella Tamana, Raffaella Colombatti, Petros Kountouris, Béatrice Gulbis, Paola Bianchi, Maria del Mar Mañú-Pereira
Journal: Blood
Blood (2024) 144 (Supplement 1): 794.
https://doi.org/10.1182/blood-2024-201501
Published: 2024
Journal Articles

An Ancient Transcriptional Hub Couples Developmentally Regulated Gene Expression with Metabolism during Erythropoiesis

Alexandra E. Preston, Joe N. Frost, Mohsin Badat, Andrew E. Armitage, Sarah Wideman, Megan Teh, Ruggiero Norfo, Noémi Roy, James O.J. Davies, Robert Beagrie, Douglas R. Higgs, Hal Drakesmith
Journal: Blood
Blood (2022) 140 (Supplement 1): 4–5.
https://doi.org/10.1182/blood-2022-166534
Published: 2022
Journal Articles

ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19

Pablo Velasco, Filomena Longo, Andrea Piolatto, Eduardo J. Bardón-Cancho, Beatriz Ponce-Salas, Pagona Flevari, Ersi Voskaridou, Bart J. Biemond, Erfan Nur, Polyxeni Delaporta, Tatiana Besse-Hammer, Anna Ruiz-Llobet, Simona Raso, Anna Spasiano, Maria Elena Guerzoni, David Beneitez-Pastor, Laurence Dedeken, Alessia Pepe, Rosamaria Rosso, Joachim B. Kunz, Mariane de Montalembert, Saveria Campisi, Andreas Glenthøj, Paula Gonzalez Urdiales, Fleur Samantha Benghiat, Marie-Agnès Azerad, Christopher J. Saunders, Teresa Ferreira Faria, Tommaso Casini, Sabrina Bagnato, Ann Van de Velde, Veerle Labarque, Elisa Bertoni, An Van Damme, Michael D. Diamantidis, Roberta Russo, Eftichia Stiakaki, Alessandra Quota, Soteroula Christou, Maria Jose Teles, Ioannis Lafiatis, Jean-Louis Kerkhoffs, María Argüello Marina, Mikael Lorite, Alexis Rodriguez, Achille Iolascon, Ali T. Taher, Raffaella Colombatti, Noemi Roy, Maria Del Mar Mañú Pereira
Journal: Blood
Blood (2021) 138 (Supplement 1): 4058.
https://doi.org/10.1182/blood-2021-147236
Published: 2021
Journal Articles

Base Editing Repairs the HbE Mutation Restoring the Production of Normal Globin Chains in Severe HbE/β-Thalassemia Patient Hematopoietic Stem Cells and Erythroid Cells

Mohsin Badat, Peng Hua, Sachith Mettananda, Christopher Fisher, Noemi Roy, Siobhan Rice, Anindita Roy, Douglas R. Higgs, James Davies
Journal: Blood
Blood (2021) 138 (Supplement 1): 2935.
https://doi.org/10.1182/blood-2021-153283
Published: 2021
Journal Articles

Single-cell analysis of bone marrow–derived CD34 + cells from children with sickle cell disease and thalassemia

Peng Hua, Noemi Roy, Josu de la Fuente, Guanlin Wang, Supat Thongjuea, Kevin Clark, Anindita Roy, Bethan Psaila, Neil Ashley, Yvonne Harrington, Claus Nerlov, Suzanne M. Watt, Irene Roberts, James O. J. Davies
Journal: Blood
Blood (2019) 134 (23): 2111–2115.
https://doi.org/10.1182/blood.2019002301
Published: 2019
Includes: Supplemental data
Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Noemi Roy, MBBCH, MD, Melanie Proven, PhD, Irene Roberts, MD, Hannah Tamary, MD, Dorine W. Swinkels, MD PhD, Aguilar-Martinez Patricia, MD PhD, Paola Bianchi, BSc, PhD, Raffaella Colombatti, MD PhD, Roberta Russo, Barnaby Clark, Mayka Sanchez, MD, Rafael Andres DEL Orbe Barreto, Elisa Fermo, PhD, Vip Viprakasit, MD DPhil, Jiraporn Korchuenjit, BSc, Tabita Magalhães Maia, MD, Frances Smith, BSc, Maria del Mar Manu, BSc, PhD, Lydie Da Costa, Antonio Marzollo, Anabelen Hozdelarastrollo, Beatriz Arrizabalaga, MD PhD, Delasalle Barbara, Achille Iolascon, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 4936.
https://doi.org/10.1182/blood-2018-99-111609
Published: 2018
Journal Articles

"in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership

Jenny Welch, Nick Meade, Dominic Messenger, Amy Hunter, Anupama Rao, MD, Subarna Chakravorty, Rachel Wearmouth, Anju Chalin, Kristina Staley, Sheela Upadhyaya, Irene Roberts, MD, Noemi Roy, MBBCH, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 5876.
https://doi.org/10.1182/blood-2018-99-115404
Published: 2018