Sequencing of human genomes with nanopore technology
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Published in Nature communications (23.04.2019)
Published in Nature communications (23.04.2019)
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Histology of Interstitial Lung Disease in Common Variable Immune Deficiency
Dhalla, Fatima, Lochlainn, Dylan J Mac, Chapel, Helen, Patel, Smita Y
Published in Frontiers in immunology (20.11.2020)
Published in Frontiers in immunology (20.11.2020)
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British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders
Hurst, John R, Verma, Nisha, Lowe, David, Baxendale, Helen E, Jolles, Stephen, Kelleher, Peter, Longhurst, Hilary J, Patel, Smita Y, Renzoni, Elisabetta A, Sander, Clare R, Avery, Gerard R, Babar, Judith L, Buckland, Matthew S, Burns, Siobhan, Egner, William, Gompels, Mark M, Gordins, Pavels, Haddock, Jamanda A, Hart, Simon P, Hayman, Grant R, Herriot, Richard, Hoyles, Rachel K, Huissoon, Aarnoud P, Jacob, Joseph, Nicholson, Andrew G, Rassl, Doris M, Sargur, Ravishankar B, Savic, Sinisa, Seneviratne, Suranjith L, Sheaff, Michael, Vaitla, Prashantha M, Walters, Gareth I, Whitehouse, Joanna L, Wright, Penny A, Condliffe, Alison M
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.07.2017)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.07.2017)
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Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
Shields, Adrian M, Tadros, Susan, Al-Hakim, Adam, Nell, Jeremy M, Lin, Me Me Nay, Chan, Michele, Goddard, Sarah, Dempster, John, Dziadzio, Magdalena, Patel, Smita Y, Elkalifa, Shuayb, Huissoon, Aarnoud, Duncan, Christopher J A, Herwadkar, Archana, Khan, Sujoy, Bethune, Claire, Elcombe, Suzanne, Thaventhiran, James, Klenerman, Paul, Lowe, David M, Savic, Sinisa, Burns, Siobhan O, Richter, Alex G
Published in Frontiers in immunology (23.09.2022)
Published in Frontiers in immunology (23.09.2022)
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Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods
Shields, Adrian M, Pagnamenta, Alistair T, Pollard, Andrew J, Taylor, Jenny C, Allroggen, Holger, Patel, Smita Y
Published in Frontiers in immunology (07.06.2019)
Published in Frontiers in immunology (07.06.2019)
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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series
Taylor, John, Craft, Jude, Blair, Edward, Wordsworth, Sarah, Beeson, David, Chandratre, Saleel, Cossins, Judith, Lester, Tracy, Németh, Andrea H, Ormondroyd, Elizabeth, Patel, Smita Y, Pagnamenta, Alistair T, Taylor, Jenny C, Thomson, Kate L, Watkins, Hugh, Wilkie, Andrew O M, Knight, Julian C
Published in Genome medicine (25.07.2019)
Published in Genome medicine (25.07.2019)
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Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings
Trück, Johannes, MD, DPhil, Kelly, Dominic F., MRCP, PhD, Taylor, John M., PhD, Kienzler, Anne Kathrin, PhD, Lester, Tracy, FRCPath, PhD, Seller, Anneke, FRCPath, PhD, Pollard, Andrew J., FRCPCH, PhD, Patel, Smita Y., FRCP, FRCPath, PhD
Published in Journal of allergy and clinical immunology (01.12.2016)
Published in Journal of allergy and clinical immunology (01.12.2016)
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Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification
van Schouwenburg, Pauline A, IJspeert, Hanna, Pico-Knijnenburg, Ingrid, Dalm, Virgil A S H, van Hagen, P Martin, van Zessen, David, Stubbs, Andrew P, Patel, Smita Y, van der Burg, Mirjam
Published in Frontiers in immunology (23.11.2018)
Published in Frontiers in immunology (23.11.2018)
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Key stages of bone marrow B-cell maturation are defective in patients with common variable immunodeficiency disorders
Anzilotti, Consuelo, MD, PhD, Kienzler, Anne-Kathrin, PhD, Lopez-Granados, Eduardo, MD, PhD, Gooding, Sarah, MD, Davies, Benjamin, MD, Pandit, Hemant, MD, PhD, Lucas, Mary, BA, Price, Andrew, MD, PhD, Littlewood, Timothy, MD, van der Burg, Mirjam, PhD, Patel, Smita Y., MD, PhD, Chapel, Helen, MA, MD
Published in Journal of allergy and clinical immunology (01.08.2015)
Published in Journal of allergy and clinical immunology (01.08.2015)
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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE
Kienzler, Anne-Kathrin, van Schouwenburg, Pauline A, Taylor, John, Marwah, Ishita, Sharma, Richa U, Noakes, Charlotte, Thomson, Kate, Sadler, Ross, Segal, Shelley, Ferry, Berne, Taylor, Jenny C, Blair, Edward, Chapel, Helen, Patel, Smita Y
Published in Clinical immunology (Orlando, Fla.) (01.02.2016)
Published in Clinical immunology (Orlando, Fla.) (01.02.2016)
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Fiddy, Simon, Allan, Chris, Aricescu, A Radu, Babbs, Christian, Becq, Jennifer, Beeson, David, Bignell, Patricia, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H, Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen Rf, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew Om, Bentley, David, Donnelly, Peter, McVean, Gilean
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Impaired neutrophil migration and phagocytosis in IRAK‐4 deficiency
Bouma, Gerben, Doffinger, Rainer, Patel, Smita Y., Peskett, Emma, Sinclair, Joanna C., Barcenas‐Morales, Gabriela, Cerron‐Gutierrez, Lourdes, Kumararatne, Dinakantha S., Graham Davies, E., Thrasher, Adrian J., Burns, Siobhan O.
Published in British journal of haematology (01.10.2009)
Published in British journal of haematology (01.10.2009)
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Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease
Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H
Published in Gut (01.06.2017)
Published in Gut (01.06.2017)
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Adult-Onset Immunodeficiency in Thailand and Taiwan
Browne, Sarah K, Burbelo, Peter D, Chetchotisakd, Ploenchan, Suputtamongkol, Yupin, Kiertiburanakul, Sasisopin, Shaw, Pamela A, Kirk, Jennifer L, Jutivorakool, Kamonwan, Zaman, Rifat, Ding, Li, Hsu, Amy P, Patel, Smita Y, Olivier, Kenneth N, Lulitanond, Viraphong, Mootsikapun, Piroon, Anunnatsiri, Siriluck, Angkasekwinai, Nasikarn, Sathapatayavongs, Boonmee, Hsueh, Po-Ren, Shieh, Chi-Chang, Brown, Margaret R, Thongnoppakhun, Wanna, Claypool, Reginald, Sampaio, Elizabeth P, Thepthai, Charin, Waywa, Duangdao, Dacombe, Camilla, Reizes, Yona, Zelazny, Adrian M, Saleeb, Paul, Rosen, Lindsey B, Mo, Allen, Iadarola, Michael, Holland, Steven M
Published in The New England journal of medicine (23.08.2012)
Published in The New England journal of medicine (23.08.2012)
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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
Hsu, Amy P., Sampaio, Elizabeth P., Khan, Javed, Calvo, Katherine R., Lemieux, Jacob E., Patel, Smita Y., Frucht, David M., Vinh, Donald C., Auth, Roger D., Freeman, Alexandra F., Olivier, Kenneth N., Uzel, Gulbu, Zerbe, Christa S., Spalding, Christine, Pittaluga, Stefania, Raffeld, Mark, Kuhns, Douglas B., Ding, Li, Paulson, Michelle L., Marciano, Beatriz E., Gea-Banacloche, Juan C., Orange, Jordan S., Cuellar-Rodriguez, Jennifer, Hickstein, Dennis D., Holland, Steven M.
Published in Blood (08.09.2011)
Published in Blood (08.09.2011)
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OxPhos in adipose tissue macrophages regulated by BTK enhances their M2-like phenotype and confers a systemic immunometabolic benefit in obesity
Purvis, Gareth S D, Collino, Massimo, van Dam, Andrea D, Einaudi, Giacomo, Ng, Yujung, Shanmuganathan, Mayooran, Patel, Smita Y, Thiemermann, Christoph, Channon, Keith M, Greaves, David R
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Published in Diabetes (New York, N.Y.) (08.01.2024)
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SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study
Shields, Adrian M., Faustini, Sian E., Hill, Harriet J., Al-Taei, Saly, Tanner, Chloe, Ashford, Fiona, Workman, Sarita, Moreira, Fernando, Verma, Nisha, Wagg, Hollie, Heritage, Gail, Campton, Naomi, Stamataki, Zania, Klenerman, Paul, Thaventhiran, James E. D., Goddard, Sarah, Johnston, Sarah, Huissoon, Aarnoud, Bethune, Claire, Elcombe, Suzanne, Lowe, David M., Patel, Smita Y., Savic, Sinisa, Burns, Siobhan O., Richter, Alex G.
Published in Journal of clinical immunology (01.07.2022)
Published in Journal of clinical immunology (01.07.2022)
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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
van Schouwenburg, Pauline A, Davenport, Emma E, Kienzler, Anne-Kathrin, Marwah, Ishita, Wright, Benjamin, Lucas, Mary, Malinauskas, Tomas, Martin, Hilary C, Lockstone, Helen E, Cazier, Jean-Baptiste, Chapel, Helen M, Knight, Julian C, Patel, Smita Y
Published in Clinical immunology (Orlando, Fla.) (01.10.2015)
Published in Clinical immunology (Orlando, Fla.) (01.10.2015)
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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine
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Published in Blood (21.09.2017)
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