The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

por Roy, Noémi B. A., Babbs, Christian
Publicado 2019

UK media reporting of NICE recommendation of crizanlizumab for patients with sickle cell disease

por Buka, Richard J, Roy, Noémi, Nicolson, Phillip LR
Publicado 2022

Iron supplementation to treat anaemia in adult critical care patients: a systematic review and meta-analysis

por Shah, Akshay, Roy, Noémi B., McKechnie, Stuart, Doree, Carolyn, Fisher, Sheila A., Stanworth, Simon J.
Publicado 2016

Single-cell O(2) exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells

por Richardson, Sarah L., Hulikova, Alzbeta, Proven, Melanie, Hipkiss, Ria, Akanni, Magbor, Roy, Noémi B. A., Swietach, Pawel
Publicado 2020

A Keratin 7 and E-Cadherin Signature Is Highly Predictive of Tubo-Ovarian High-Grade Serous Carcinoma Prognosis

por Communal, Laudine, Roy, Noemi, Cahuzac, Maxime, Rahimi, Kurosh, Köbel, Martin, Provencher, Diane M., Mes-Masson, Anne-Marie
Publicado 2021

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

por Roy, Noémi B A, Zaal, Ahmad I, Hall, Georgina, Wilkinson, Nick, Proven, Melanie, McGowan, Simon, Hipkiss, Ria, Buckle, Veronica, Kavirayani, Akhila, Babbs, Christian
Publicado 2020

Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience

por Pellegrini, Mariangela, Chakravorty, Subarna, del Mar Manu Pereira, Maria, Gulbis, Beatrice, Gilmour-Hamilton, Catriona, Hayes, Sandy, de Montalembert, Mariane, Inusa, Baba Psalm Duniya, Colombatti, Raffaella, Roy, Noémi BA
Publicado 2023

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

por Roy, Noémi B. A., Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, del Mar Mañú-Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, van Wijk, Richard, van der Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille
Publicado 2022

Direct correction of haemoglobin E β-thalassaemia using base editors

por Badat, Mohsin, Ejaz, Ayesha, Hua, Peng, Rice, Siobhan, Zhang, Weijiao, Hentges, Lance D., Fisher, Christopher A., Denny, Nicholas, Schwessinger, Ron, Yasara, Nirmani, Roy, Noemi B. A., Issa, Fadi, Roy, Andi, Telfer, Paul, Hughes, Jim, Mettananda, Sachith, Higgs, Douglas R., Davies, James O. J.
Publicado 2023

Ancient genomic linkage couples metabolism with erythroid development

por Preston, Alexandra E., Frost, Joe N., Badat, Mohsin, Teh, Megan, Armitage, Andrew E., Norfo, Ruggiero, Wideman, Sarah K., Hanifi, Muhammad, White, Natasha, Roy, Noémi, Ghesquiere, Bart, Babbs, Christian, Kassouf, Mira, Davies, James, Hughes, Jim R., Beagrie, Rob, Higgs, Douglas R., Drakesmith, Hal
Publicado 2023

RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

por Martell, Danya J., Merens, Hope E., Fiorini, Claudia, Caulier, Alexis, Ulirsch, Jacob C., Ietswaart, Robert, Choquet, Karine, Graziadei, Giovanna, Brancaleoni, Valentina, Cappellini, Maria Domenica, Scott, Caroline, Roberts, Nigel, Proven, Melanie, Roy, Noémi BA, Babbs, Christian, Higgs, Douglas R., Sankaran, Vijay G., Churchman, L. Stirling
Publicado 2023

Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia

por Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta, Barcellini, Wilma, Fermo, Elisa, Toldi, Gergely, Ghirardello, Stefano, Rees, Davis, Van Wijk, Richard, Kattamis, Antonis, Gallagher, Patrick G., Roy, Noemi, Taher, Ali, Mohty, Razan, Kulozik, Andreas, De Franceschi, Lucia, Gambale, Antonella, De Montalembert, Mariane, Forni, Gian Luca, Harteveld, Cornelis L., Prchal, Josef, Bianchi, Paola
Publicado 2021

Recommendations for diagnosis and treatment of methemoglobinemia

por Iolascon, Achille, Bianchi, Paola, Andolfo, Immacolata, Russo, Roberta, Barcellini, Wilma, Fermo, Elisa, Toldi, Gergely, Ghirardello, Stefano, Rees, Davis, Van Wijk, Richard, Kattamis, Antonis, Gallagher, Patrick G., Roy, Noemi, Taher, Ali, Mohty, Razan, Kulozik, Andreas, De Franceschi, Lucia, Gambale, Antonella, De Montalembert, Mariane, Forni, Gian Luca, Harteveld, Cornelis L., Prchal, Josef
Publicado 2021

Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

por Scott, Caroline, Downes, Damien J., Brown, Jill M., Beagrie, Robert A., Olijnik, Aude-Anais, Gosden, Matthew, Schwessinger, Ron, Fisher, Christopher A., Rose, Anna, Ferguson, David J.P, Johnson, Errin, Hill, Quentin A., Okoli, Steven, Renella, Raffaele, Ryan, Kate, Brand, Marjorie, Hughes, Jim, Roy, Noemi B.A., Higgs, Douglas R., Babbs, Christian, Buckle, Veronica J.
Publicado 2020

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

por Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Publicado 2016

Identification of intraductal carcinoma of the prostate on tissue specimens using Raman micro-spectroscopy: A diagnostic accuracy case–control study with multicohort validation

por Grosset, Andrée-Anne, Dallaire, Frédérick, Nguyen, Tien, Birlea, Mirela, Wong, Jahg, Daoust, François, Roy, Noémi, Kougioumoutzakis, André, Azzi, Feryel, Aubertin, Kelly, Kadoury, Samuel, Latour, Mathieu, Albadine, Roula, Prendeville, Susan, Boutros, Paul, Fraser, Michael, Bristow, Rob G., van der Kwast, Theodorus, Orain, Michèle, Brisson, Hervé, Benzerdjeb, Nazim, Hovington, Hélène, Bergeron, Alain, Fradet, Yves, Têtu, Bernard, Saad, Fred, Leblond, Frédéric, Trudel, Dominique
Publicado 2020

Dimensional reduction based on peak fitting of Raman micro spectroscopy data improves detection of prostate cancer in tissue specimens

por Plante, Arthur, Dallaire, Frédérick, Grosset, Andrée-Anne, Nguyen, Tien, Birlea, Mirela, Wong, Jahg, Daoust, François, Roy, Noémi, Kougioumoutzakis, André, Azzi, Feryel, Aubertin, Kelly, Kadoury, Samuel, Latour, Mathieu, Albadine, Roula, Prendeville, Susan, Boutros, Paul, Fraser, Michael, Bristow, Rob G., van der Kwast, Theodorus, Orain, Michèle, Brisson, Hervé, Benzerdjeb, Nazim, Hovington, Hélène, Bergeron, Alain, Fradet, Yves, Têtu, Bernard, Saad, Fred, Trudel, Dominique, Leblond, Frédéric
Publicado 2021

Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients

por Telfer, Paul, de la Fuente, Josu, Sohal, Mamta, Brown, Ralph, Eleftheriou, Perla, Roy, Noémi, Piel, Frédéric B., Chakravorty, Subarna, Gardner, Kate, Velangi, Mark, Drasar, Emma, Shah, Farrukh, Porter, John B., Trompeter, Sara, Atoyebi, Wale, Szydlo, Richard, Anie, Kofi A., Ryan, Kate, Sharif, Joseph, Wright, Josh, Astwood, Emma, Nicolle, C. Sarah, Webster, Amy, Roberts, David J., Lugthart, Sanne, Kaya, Banu, Awogbade, Moji, Rees, David C., Hollingsworth, Rob, Inusa, Baba, Howard, Jo, Layton, D. Mark
Publicado 2020

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

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

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

por Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, Taylor, Jenny C.
Publicado 2023