A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias
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
Published in British journal of haematology (01.10.2016)
Published in British journal of haematology (01.10.2016)
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Journal Article
Direct correction of haemoglobin E β-thalassaemia using base editors
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
Published in Nature communications (19.04.2023)
Published in Nature communications (19.04.2023)
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Journal Article
Richer than Gold: the fungal biodiversity of Reserva Los Cedros, a threatened Andean cloud forest
Vandegrift, R., Newman, D. S., Dentinger, B. T. M., Batallas-Molina, R., Dueñas, N., Flores, J., Goyes, P., Jenkinson, T. S., McAlpine, J., Navas, D., Policha, T., Thomas, D. C., Roy, B. A.
Published in Botanical studies (06.07.2023)
Published in Botanical studies (06.07.2023)
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Journal Article
Cardiac iron overload in transfusion‐dependent patients with myelodysplastic syndromes
Roy, Noémi B. A., Myerson, Saul, Schuh, Anna H., Bignell, Patricia, Patel, Roger, Wainscoat, Jim S., McGowan, Simon, Marchi, Emanuele, Atoyebi, Wale, Littlewood, Tim, Chacko, Joseph, Vyas, Paresh, Killick, Sally B.
Published in British journal of haematology (01.08.2011)
Published in British journal of haematology (01.08.2011)
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Journal Article
The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
Roy, Noémi B. A., Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, Mar Mañú‐Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, Wijk, Richard, Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille
Published in HemaSphere (01.06.2022)
Published in HemaSphere (01.06.2022)
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Journal Article
Loss of mesenchymal bone morphogenetic protein signaling leads to development of reactive stroma and initiation of the gastric neoplastic cascade
Roy, Sébastien A B, Allaire, Joannie M, Ouellet, Camille, Maloum-Rami, Faiza, Pomerleau, Véronique, Lemieux, Étienne, Babeu, Jean-Philippe, Rousseau, Jasmin, Paquet, Marilène, Garde-Granger, Perrine, Boudreau, François, Perreault, Nathalie
Published in Scientific reports (09.09.2016)
Published in Scientific reports (09.09.2016)
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Journal Article
Medical science must address health disparities amongst different ethnic groups
Igbineweka, Norris E, Tshuma, Nomathamsanqa, Roy, Noémi B A
Published in Nature human behaviour (01.12.2021)
Published in Nature human behaviour (01.12.2021)
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Journal Article
Tectono-metamorphic and geochronologic studies from Sandmata complex, northwest Indian shield: Implications on exhumation of late-palaeoproterozoic granulites in an archaean-early palaeoproterozoic granite-gneiss terrane
Roy, A. B., Kröner, Alfred, Rathore, Sanjeev, Laul, Vivek, Purohit, Ritesh
Published in Journal of the Geological Society of India (01.04.2012)
Published in Journal of the Geological Society of India (01.04.2012)
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Journal Article
Single-cell O₂ exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells
Richardson, Sarah L., Hulikova, Alzbeta, Proven, Melanie, Hipkiss, Ria, Akanni, Magbor, Roy, Noémi B. A., Swietach, Pawel
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2020)
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Journal Article
Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID‐19 pandemic
Roy, Noémi B. A., Telfer, Paul, Eleftheriou, Perla, de la Fuente, Josu, Drasar, Emma, Shah, Farrukh, Roberts, David, Atoyebi, Wale, Trompeter, Sara, Layton, D. Mark, Lugthart, Sanne, Stuart‐Smith, Sara, Chakravorty, Subarna, Wright, Josh, Porter, John, Inusa, Baba, Howard, Jo
Published in British Journal of Haematology (01.05.2020)
Published in British Journal of Haematology (01.05.2020)
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Journal Article
Web Resource
Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline
Bain, Barbara J., Daniel, Yvonne, Henthorn, Joan, de la Salle, Barbara, Hogan, Amanda, Roy, Noémi B. A., Mooney, Ciaran, Langabeer, Lisa, Rees, David C.
Published in British journal of haematology (01.06.2023)
Published in British journal of haematology (01.06.2023)
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Journal Article
Epithelial phosphatase and tensin homolog regulates intestinal architecture and secretory cell commitment and acts as a modifier gene in neoplasia
Langlois, Marie-Josée, Roy, Sébastien A.B, Auclair, Benoit A, Jones, Christine, Boudreau, François, Carrier, Julie C, Rivard, Nathalie, Perreault, Nathalie
Published in The FASEB journal (01.06.2009)
Published in The FASEB journal (01.06.2009)
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Journal Article
Analysis of hedge fund strategies using slack-based DEA models
Kumar, U D, Roy, A B, Saranga, H, Singal, K
Published in The Journal of the Operational Research Society (01.12.2010)
Published in The Journal of the Operational Research Society (01.12.2010)
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Journal Article
Out of plane performance of novel concrete sandwich panel using different geosynthetics
Bishnoi, Upender, Danie Roy, A.B., Kwatra, Naveen
Published in Construction & building materials (20.09.2021)
Published in Construction & building materials (20.09.2021)
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Journal Article