Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
Cytlak, Urszula, Resteu, Anastasia, Pagan, Sarah, Green, Kile, Milne, Paul, Maisuria, Sheetal, McDonald, David, Hulme, Gillian, Filby, Andrew, Carpenter, Benjamin, Queen, Rachel, Hambleton, Sophie, Hague, Rosie, Lango Allen, Hana, Thaventhiran, James E.D., Doody, Gina, Collin, Matthew, Bigley, Venetia
Published in Immunity (Cambridge, Mass.) (18.08.2020)
Published in Immunity (Cambridge, Mass.) (18.08.2020)
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Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 ( IKZF1 ) in a Cohort of Patients With Primary Immunodeficiency
Eskandarian, Zoya, Fliegauf, Manfred, Bulashevska, Alla, Proietti, Michele, Hague, Rosie, Smulski, Cristian Roberto, Schubert, Desirée, Warnatz, Klaus, Grimbacher, Bodo
Published in Frontiers in immunology (16.04.2019)
Published in Frontiers in immunology (16.04.2019)
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Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II
Guillard, Maïlys, Morava, Eva, van Delft, Floris L, Hague, Rosie, Körner, Christian, Adamowicz, Maciej, Wevers, Ron A, Lefeber, Dirk J
Published in Clinical chemistry (Baltimore, Md.) (01.04.2011)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2011)
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Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 ( IKZF1 ) in a Cohort of Patients With Primary Immunodeficiency
Eskandarian, Zoya, Fliegauf, Manfred, Bulashevska, Alla, Proietti, Michele, Hague, Rosie, Smulski, Cristian Roberto, Schubert, Desirée, Warnatz, Klaus, Grimbacher, Bodo
Published in Frontiers in immunology (28.06.2019)
Published in Frontiers in immunology (28.06.2019)
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The seroprevalence of hepatitis C virus infection among children and their mothers attending for dental care in Glasgow, Scotland, United Kingdom
O’Leary, Maureen, Bagg, Jeremy, Welbury, Richard, Hutchinson, Sharon J, Hague, Rosie, Geary, Isabella, Roy, Kirsty M
Published in Journal of infection and public health (01.07.2017)
Published in Journal of infection and public health (01.07.2017)
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher
Published in Journal of allergy and clinical immunology (01.10.2018)
Published in Journal of allergy and clinical immunology (01.10.2018)
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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
Coulter, Tanya I., MRCPI, Chandra, Anita, PhD, FRCPath, Bacon, Chris M., PhD, FRCPath, Babar, Judith, MRCP, FRCR, Curtis, James, PhD, Screaton, Nick, FRCP, FRCR, Goodlad, John R., MD, FRCPath, Farmer, George, MD, Steele, Cathal Laurence, MB, Leahy, Timothy Ronan, MRCPI, Doffinger, Rainer, PhD, FRCPath, Baxendale, Helen, PhD, FRCPath, Bernatoniene, Jolanta, PhD, Edgar, J. David M., FRCP, FRCPath, Longhurst, Hilary J., PhD, FRCPath, Ehl, Stephan, MD, PhD, Speckmann, Carsten, MD, Grimbacher, Bodo, MD, PhD, Sediva, Anna, MD, PhD, Milota, Tomas, MD, Faust, Saul N., PhD, FRCPCH, Williams, Anthony P., PhD, FRCPath, Hayman, Grant, FRCP, FRCPath, Kucuk, Zeynep Yesim, MD, Hague, Rosie, MRCP, FRCPH, French, Paul, MD, MRCS, DipFMS, FRCPath, Brooker, Richard, FRCPCH, Forsyth, Peter, FRCPath, Herriot, Richard, FRCP, FRCPath, Cancrini, Caterina, MD, PhD, Palma, Paolo, MD, PhD, Ariganello, Paola, MD, Conlon, Niall, PhD, FRCPath, Feighery, Conleth, PhD, FRCPath, Gavin, Patrick J., MD, Jones, Alison, PhD, FRCPCH, Imai, Kohsuke, MD, PhD, Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath, Markelj, Gašper, MD, Abinun, Mario, MD, PhD, Rieux-Laucat, Frédéric, PhD, Latour, Sylvain, PhD, Pellier, Isabelle, MD, PhD, Fischer, Alain, MD, PhD, Touzot, Fabien, MD, PhD, Casanova, Jean-Laurent, MD, PhD, Durandy, Anne, MD, PhD, Burns, Siobhan O., MD, PhD, Savic, Sinisa, PhD, FRCPath, Kumararatne, D.S., FRCPath, DPhil (Oxon), Moshous, Despina, MD, PhD, Kracker, Sven, PhD, Vanhaesebroeck, Bart, PhD, FMedSci, Okkenhaug, Klaus, PhD, Picard, Capucine, MD, PhD, Nejentsev, Sergey, MD, PhD, Condliffe, Alison M., PhD, FRCP, Cant, Andrew James, MD, FRCP, FRCPH
Published in Journal of allergy and clinical immunology (01.02.2017)
Published in Journal of allergy and clinical immunology (01.02.2017)
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Ledipasvir‐Sofosbuvir for 12 Weeks in Children 3 to <6 Years Old With Chronic Hepatitis C
Schwarz, Kathleen B., Rosenthal, Philip, Murray, Karen F., Honegger, Jonathan R., Hardikar, Winita, Hague, Rosie, Mittal, Naveen, Massetto, Benedetta, Brainard, Diana M., Hsueh, Chia‐Hsiang, Shao, Jiang, Parhy, Bandita, Narkewicz, Michael R., Rao, Girish S., Whitworth, Suzanne, Bansal, Sanjay, Balistreri, William F.
Published in Hepatology (Baltimore, Md.) (01.02.2020)
Published in Hepatology (Baltimore, Md.) (01.02.2020)
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OA43 Development of a national across specialty multi-disciplinary team for management of hyper-inflammatory conditions during the SARS-CoV-2 pandemic
McLellan, Kirsty, Reilly, Liam, Pollock, Louisa, Swann, Olivia, Anderson, Catriona, Martin, Neil, Brennan, Mary, Hague, Rosie, Walsh, Jo
Published in Rheumatology (Oxford, England) (23.04.2022)
Published in Rheumatology (Oxford, England) (23.04.2022)
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A national consensus management pathway for paediatric inflammatory multisystem syndrome temporally associated with COVID-19 (PIMS-TS): results of a national Delphi process
Harwood, Rachel, Allin, Benjamin, Jones, Christine E, Whittaker, Elizabeth, Ramnarayan, Padmanabhan, Ramanan, Athimalaipet V, Kaleem, Musa, Tulloh, Robert, Peters, Mark J, Almond, Sarah, Davis, Peter J, Levin, Michael, Tometzki, Andrew, Faust, Saul N, Knight, Marian, Kenny, Simon, Agbeko, Rachel, Aragon, Octavio, Baird, Jim, Bamford, Alasdair, Bereford, Michael, Bharucha, Tara, Brogan, Paul, Butler, Karina, Carroll, Enitan, Cathie, Katrina, Chikermane, Ashish, Christie, Sharon, Clark, Matthew, Deri, Antigoni, Doherty, Conor, Drysdale, Simon, Duong, Phouc, Durairaj, Saravanan, Emonts, Marieke, Evans, Jennifer, Fraser, James, Hackett, Scott, Hague, Rosie, Heath, Paul, Herberg, Jethro, Ilina, Marina, Jay, Nicola, Kelly, Dominic, Kerrison, Caroline, Kraft, Jeannette, Leahy, Alice, Linney, Mike, Lyall, Hermione, McCann, Liza, McMaster, Paddy, Miller, Owen, O'Riordan, Sean, Owens, Stephen, Pain, Clare, Patel, Sanjay, Pathan, Nazima, Pauling, James, Porter, David, Prendergast, Andrew, Ravi, Kumar, Riorden, Andrew, Roderick, Marion, Scholefield, Barnaby R, Semple, Malcolm G, Sen, Ethan, Shackley, Fiona, Sinha, Ian, Tibby, Shane, Verganano, Stefania, Welch, Steven B, Wilkinson, Nicholas, Wood, Mark, Yardley, Iain
Published in The Lancet Child & Adolescent Health (01.02.2021)
Published in The Lancet Child & Adolescent Health (01.02.2021)
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Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
Jägle, Sabine, Heeg, Maximilian, Grün, Sarah, Rensing-Ehl, Anne, Maccari, Maria Elena, Klemann, Christian, Jones, Neil, Lehmberg, Kai, Bettoni, Claudia, Warnatz, Klaus, Grimbacher, Bodo, Biebl, Ariane, Schauer, Uwe, Hague, Rosie, Neth, Olaf, Mauracher, Andrea, Pachlopnik Schmid, Jana, Fabre, Alexandre, Kostyuchenko, Larysa, Führer, Marita, Lorenz, Myriam Ricarda, Schwarz, Klaus, Rohr, Jan, Ehl, Stephan
Published in Clinical immunology (Orlando, Fla.) (01.01.2020)
Published in Clinical immunology (Orlando, Fla.) (01.01.2020)
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Impact of newborn screening for SCID on the management of congenital athymia
Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K, Worth, Austen, Davies, E Graham, Kreins, Alexandra Y
Published in Journal of allergy and clinical immunology (01.01.2024)
Published in Journal of allergy and clinical immunology (01.01.2024)
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Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort
Shears, Annalie, Steele, Cathal, Craig, Jamie, Jolles, Stephen, Savic, Sinisa, Hague, Rosie, Coulter, Tanya, Herriot, Richard, Arkwright, Peter D.
Published in Journal of clinical immunology (01.04.2022)
Published in Journal of clinical immunology (01.04.2022)
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Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study
Tsilifis, Christo, Speckmann, Carsten, Lum, Su Han, Fox, Thomas A., Soler, Adriana Margarit, Mozo, Yasmina, Corral, Dolores, Ewins, Anna-Maria, Hague, Rosie, Oikonomopoulou, Christina, Kałwak, Krzysztof, Drabko, Katarzyna, Wynn, Robert, Morris, Emma C., Elcombe, Suzanne, Bigley, Venetia, Lougaris, Vassilios, Malagola, Michele, Hauck, Fabian, Sedlacek, Petr, Laberko, Alexandra, Tjon, Jennifer M.L., Buddingh, Emilie P., Wehr, Claudia, Grimbacher, Bodo, Gennery, Andrew R., Lankester, Arjan C., Albert, Michael H., Neven, Bénédicte, Slatter, Mary A.
Published in Journal of allergy and clinical immunology (30.08.2024)
Published in Journal of allergy and clinical immunology (30.08.2024)
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Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
Minskaia, Ekaterina, Maimaris, Jesmeen, Jenkins, Persephone, Albuquerque, Adriana S., Hong, Ying, Eleftheriou, Despina, Gilmour, Kimberly C., Grace, Richard, Moreira, Fernando, Grimbacher, Bodo, Morris, Emma C., Burns, Siobhan O.
Published in Journal of clinical immunology (01.10.2023)
Published in Journal of clinical immunology (01.10.2023)
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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing
Hocking, Lynne J, Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J, O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J, Miedzybrodzka, Zosia
Published in European journal of human genetics : EJHG (01.02.2023)
Published in European journal of human genetics : EJHG (01.02.2023)
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Practical challenges for functional validation of STAT1 gain of function genetic variants
Albuquerque, Adriana S, Maimaris, Jesmeen, McKenna, Alexander J, Lambourne, Jonathan, Moreira, Fernando, Workman, Sarita, Megy, Karyn, Simeoni, Ilenia, Lango Allen, Hana, Morris, Emma C, Burns, Siobhan O
Published in Clinical and experimental immunology (25.04.2023)
Published in Clinical and experimental immunology (25.04.2023)
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