Does rituximab aggravate pre-existing hypogammaglobulinaemia?: Table 1
Diwakar, Lavanya, Gorrie, Sheryl, Richter, Alex, Chapman, Oliver, Dhillon, Paul, Al-Ghanmi, Fayza, Noorani, Sadia, Krishna, Mamidipudi T, Huissoon, Aarnoud
Published in Journal of clinical pathology (01.03.2010)
Published in Journal of clinical pathology (01.03.2010)
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COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
Shields, Adrian M., Burns, Siobhan O., Savic, Sinisa, Richter, Alex G., Anantharachagan, Ariharan, Arumugakani, Gururaj, Baker, Kenneth, Bahal, Sameer, Bermingham, William, Bhole, Malini, Boules, Evon, Bright, Philip, Burns, Siobhan, Cleave, Betsy, Dempster, John, Devlin, Lisa, Dhalla, Fatima, Drewe, Elizabeth, Duncan, Christopher, Dziadzio, Magdalena, Elkhalifa, Shuayb, Gennery, Andrew, Goddard, Sarah, Grigoriadou, Sofia, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jain, Rashmi, Jolles, Stephen, Johnston, Sarah, Leeman, Lucy, Mahabir, Shanti, MacLochlainn, Dylan, McDermott, Elizabeth, Misbah, Siraj, Morsi, Hadeil, Murng, Sai, Noorani, Sadia, O’Brien, Rachael, Patel, Smita, Price, Arthur, Richter, Alex, Savic, Sinisa, Seneviratne, Suranjith, Shields, Adrian, Shrimpton, Anna, Stroud, Catherine, Vaitla, Prashantha, Verma, Nisha
Published in Journal of allergy and clinical immunology (01.03.2021)
Published in Journal of allergy and clinical immunology (01.03.2021)
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Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Thaventhiran, James E. D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V. V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.
Published in Nature (London) (02.07.2020)
Published in Nature (London) (02.07.2020)
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Kindle, Gerhard, Rusch, Stephan, Seppänen, Mikko R.J., Mahlaoui, Nizar, Kojić, Marina, Seidel, Markus G., Smet, Julie, Milota, Tomas, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, Lotfy, Sohilla, Meshaal, Safa S., Sobh, Ali, Courteille, Virginie, Albert, Michael H., Atschekzei, Faranaz, Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Boetticher, Benedikt, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Fasshauer, Maria, Fecker, Gisela, Goldacker, Sigune, Graf, Dagmar, Hanitsch, Leif Gunnar, Henes, Joerg C., Holzer, Ursula, Holzinger, Dirk, Joean, Oana, Kobbe, Robin, Körholz, Julia, Liese, Johannes G., Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Scheible, Raphael, Schmalzing, Marc, Schwarz, Klaus, Tenbrock, Klaus, Wasmuth, Jan-Christian, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Goda, Vera, Kriván, Gergely, Abolhassani, Hassan, Feighery, Conleth, Ryan, Paul, Cesaro, Simone, Gambineri, Eleonora, Pignata, Claudio, Ricci, Silvia, Vacca, Angelo, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Esteves, Isabel, Neves, João Farela, Capilna, Brindusa Ruxandra, Jesenak, Milos, Petrovicova, Otilia, Kopač, Peter, Gonzalez-Granado, Luis Ignacio, Parra-Martínez, Alba, Sánchez-Ramón, Silvia, Solanich, Xavier, Ekwall, Olov, Fasth, Anders, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Steiner, Urs C., Bredius, Robbert G., Potjewijd, Judith, van Aerde, Koen J., Aydemir, Sezin, Dogu, Figen, Kiykim, Ayca, Kutukculer, Necil, UNAL, Ekrem, Boyarchuk, Oksana, Alachkar, Hana, Baxendale, Helen E., Coulter, Tanya I., Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Waruiru, Catherine, Bourne, Helen
Published in Journal of allergy and clinical immunology (01.11.2021)
Published in Journal of allergy and clinical immunology (01.11.2021)
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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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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy
Published in Journal of allergy and clinical immunology (01.10.2020)
Published in Journal of allergy and clinical immunology (01.10.2020)
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Journal Article
Prophylaxis in hereditary angioedema: a United Kingdom Delphi consensus
Yong, Patrick F K, Annals, Rachel, Diwakar, Lavanya, Elkhalifa, Shuayb, Gompels, Mark, Jain, Rashmi, Karim, Mohammed Yousuf, Khan, Sujoy, Metcalfe, Angela, Noorani, Sadia, Steele, Cathal, Kiani-Alikhan, Sorena, Garcez, Tomaz
Published in Clinical and experimental immunology (20.06.2024)
Published in Clinical and experimental immunology (20.06.2024)
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Journal Article
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK
Shields, Adrian M, Anantharachagan, Ariharan, Arumugakani, Gururaj, Baker, Kenneth, Bahal, Sameer, Baxendale, Helen, Bermingham, William, Bhole, Malini, Boules, Evon, Bright, Philip, Chopra, Charu, Cliffe, Lucy, Cleave, Betsy, Dempster, John, Devlin, Lisa, Dhalla, Fatima, Diwakar, Lavanya, Drewe, Elizabeth, Duncan, Christopher, Dziadzio, Magdalena, Elcombe, Suzanne, Elkhalifa, Shuayb, Gennery, Andrew, Ghanta, Harichandrana, Goddard, Sarah, Grigoriadou, Sofia, Hackett, Scott, Hayman, Grant, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Jain, Rashmi, Jolles, Stephen, Johnston, Sarah, Khan, Sujoy, Laffan, James, Lane, Peter, Leeman, Lucy, Lowe, David M, Mahabir, Shanti, Lochlainn, Dylan James Mac, McDermott, Elizabeth, Misbah, Siraj, Moghaddas, Fiona, Morsi, Hadeil, Murng, Sai, Noorani, Sadia, O'Brien, Rachael, Patel, Smita, Price, Arthur, Rahman, Tasneem, Seneviratne, Suranjith, Shrimpton, Anna, Stroud, Catherine, Thomas, Moira, Townsend, Katie, Vaitla, Prashantha, Verma, Nisha, Williams, Anthony, Burns, Siobhan O, Savic, Sinisa, Richter, Alex G
Published in Clinical and experimental immunology (29.09.2022)
Published in Clinical and experimental immunology (29.09.2022)
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Journal Article
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Reich, Adi, Cross, J. Helen, Scheffer, Ingrid E., Krishnappa, Netravathi, Awada, Jana, Baralle, Diana, Bernhard, Birgitta, Clasper, Susan, Clayton-Smith, Jill, Cresswell, Lara, Donaldson, Alan, Ellis, Ian, Gaunt, Lorraine, He, Liu, Hewitt, Sarah, Hurst, Jane, Kirk, Claire, Kivuva, Emma, Kumar, Dhavendra, Mansour, Sahar, McCann, Emma, McKee, Shane, Mugalaasi, Hood, Murphy, Helen, Newbury-Ecob, Ruth, Pilz, Daniela T., Pollard, Martin, Pridham, Abigail, Saggar, Anand, Scott, Richard, Shearing, Emma, Smithson, Sarah, Sneddon, Linda, Suri, Mohnish, Tatton-Brown, Kate, Thomson, Jenny, Torokwa, Audrey, Varghese, Vinod, Yau, Michael, Artigas, Maria Soler, Boustred, Chris, Evans, David, Flicek, Paul, Hart, Deborah, Langford, Cordelia, Lawson, Daniel, Li, Rui, O'Donnovan, Michael, Parker, Victoria, Parr, Jeremy R., Paunio, Tiina, Rehnström, Karola, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Williamson, Kathleen A., Wong, Kim, Alachkar, Hana, Ambegaonkar, Gautum, Attwood, Antony, Austin, Steve, Bennett, David, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bradley, John R., Browning, Michael, Clement, Emma, Doffinger, Rainer, Drewe, Elizabeth, Frary, Amy, Ghataorhe, Pavandeep K., Greenhalgh, Alan, Hackett, Scott, Hadinnapola, Charaka, Heemskerk, Johan W.M., Humbert, Marc, James, Roger, Krishnakumar, Deepa, Lawrie, Allan, Lentaigne, Claire, Maimaris, Jesmeen, Maw, Anna, Megy, Karyn, Moledina, Shahin, Morrell, Nicholas, Nejentsev, Sergey, Polwarth, Gary, Quinti, Isabella, Raymond, F. Lucy, Samarghitean, Crina, Sanchis-Juan, Alba, Southgate, Laura, Stauss, Hans, Thrasher, Adrian, Trembath, Richard, Turro, Ernest, Williamson, Catherine, Yeatman, Nigel, Millichap, John J.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
West, Hannah, Carss, Keren, Shakeel, Hassan, Adlard, Julian, Cole, Trevor, Kwong, Ava, Paterson, Joan, Searle, Claire, Skytte, Anne-Bine, Aitman, Timothy, Ambegaonkar, Gautum, Antrobus, Richard, Arno, Gavin, Astle, William, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Bolton-Maggs, Paula, Booth, Claire, Clements-Brod, Naomi, Clowes, Virginia, Collins, Peter, Cookson, Victoria, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Dewhurst, Eleanor, Doffinger, Rainer, Drewe, Elizabeth, Favier, Remi, Firth, Helen, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gissen, Paul, Gomez, Keith, Graf, Stefan, Gräf, Stefan, Greenhalgh, Alan, Hackett, Scott, Haimel, Matthias, Herwadkar, Archana, Holder, Muriel, Huissoon, Aarnoud, James, Roger, Kennedy, Fiona, Kingston, Nathalie, Kuijpers, Taco, Lawrie, Allan, Lentaigne, Claire, Machado, Rajiv, Maher, Eamonn, Mangles, Sarah, Manson, Ania, Matser, Vera, McDermott, Elizabeth, Megy, Karyn, Millar, Carolyn M., Morrell, Nicholas, Ouwehand, Willem H., Papadia, Sofia, Payne, Jeanette, Peacock, Andrew, Pollock, Val, Quinti, Isabella, Rayner-Matthews, Paula, Rehnstrom, Karola, Rhodes, Christopher J., Richardson, Sylvia, Richter, Alex, Rondina, Matthew, Rosser, Elisabeth, Rue-Albrecht, Kevin, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulze, Harald, Seneviratne, Suranjith, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Stark, Hannah, Stock, Sophie, Thaventhiran, James, Thompson, Dorothy, Toh, Cheng-Hock, Turek, Wojciech, Wassmer, Evangeline, Watt, Christopher, Wharton, John, Williamson, Catherine, Woods, Geoff, Wort, John, Yeatman, Nigel, Tischkowitz, Marc D., Maher, Eamonn R.
Published in American journal of human genetics (05.07.2018)
Published in American journal of human genetics (05.07.2018)
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Journal Article
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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Journal Article
Lanadelumab for the prevention of hereditary angioedema attacks: A real‐world UK audit
Dorr, Anthony D., Chopra, Charu, Coulter, Tanya I., Dempster, John, Dziadzio, Magdalena, El‐Shanawany, Tariq, Garcez, Tomaz, Gompels, Mark, Herriot, Richard, Jain, Rashmi, Levi, Marcel, Lorenzo, Lorena, Makki, Inas, Mapazire, Elizabeth, Murng, Sai H. K., Noorani, Sadia, Savic, Sinisa, Steele, Cathal L., Symons, Christine, Tarzi, Michael, Yong, Patrick F. K., Kiani‐Alikhan, Sorena
Published in Allergy (Copenhagen) (01.05.2023)
Published in Allergy (Copenhagen) (01.05.2023)
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Journal Article
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Duarte, Sofia T., Charles, Perinne, Pfundt, Rolph, van Bokhoven, Hans, van Ravenswaaij-Arts, Conny, Morrell, Nicholas W., Thrasher, Adrian, Fletcher, Debra, Veltman, Marijke, Davis, John, Frary, Amy, Martin, Jennifer M., Collins, Janine, Favier, Remi, Hart, Daniel, Heemskerk, Johan W.M., Liesner, Ri, Mangles, Sarah, Roughley, Catherine, Tait, R. Campbell, Thachil, Jecko, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Furnell, Abigail, Mapeta, Rutendo, Whitehorn, Deborah, Daugherty, Louise, Deevi, Sri V.V., Hu, Fengyuan, Matser, Vera, Megy, Karyn, Tuna, Salih, von Ziegenweldt, Julie, Haimel, Matthias, Richardson, Sylvia, Rankin, Stuart, Anderson, Julie, Stock, Sophie, Armstrong, Ruth, Bitner-Glindzicz, Maria, Brady, Angie, Clement, Emma, Firth, Helen, Flinter, Frances, French, Courtney, Holder, Muriel, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Mehta, Sarju, Moore, Anthony, Rankin, Julia, Reid, Evan, Scott, Richard, Thomas, Ellen, Wassmer, Evangeline, Creaser-Myers, Amanda, Gall, Henning, Ghataorhe, Pavandeep K., Houweling, Arjan C., in’t Veld, Anna Huis, Ross, Rob V. Mackenzie, Rhodes, Christopher J., Soubrier, Florent, Treacy, Carmen M., Vonk Noordegraaf, Anton, Antrobus, Richard, Arumugakani, Gururaj, Bibi, Shahnaz, Devlin, Lisa, Ghurye, Rohit, Grigoriadou, Sofia, Harper, Lorraine, Herwadkar, Archana, Jolles, Stephen, Kumararatne, Dinakantha, Lorenzo, Lorena, Murng, Sai, Nejentsev, Sergey, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Yong, Patrick, Ancliff, Phil, Layton, Mark, Mead, Adam, Roy, Noémi, Chambers, Jenny, Estiu, Cecelia, Simpson, Michael, Emmerson, Ingrid, McCarthy, Mark, Van Zuydam, Natalie, Afzal, Maryam, Colby, Elizabeth, Boycott, Kym M., Majewski, Jacek, Dyment, David
Published in American journal of human genetics (05.07.2018)
Published in American journal of human genetics (05.07.2018)
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Journal Article
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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Journal Article
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the United Kingdom
Shields, Adrian M, Anantharachagan, Ariharan, Arumugakani, Gururaj, Baker, Kenneth, Bahal, Sameer, Baxendale, Helen, Bermingham, William, Bhole, Malini, Boules, Evon, Bright, Philip, Chopra, Charu, Cliffe, Lucy, Cleave, Betsy, Dempster, John, Devlin, Lisa, Dhalla, Fatima, Diwakar, Lavanya, Drewe, Elizabeth, Duncan, Christopher, Dziadzio, Magdalena, Elcombe, Suzanne, Elkhalifa, Shuayb, Gennery, Andrew, Ghanta, Harichandrana, Goddard, Sarah, Grigoriadou, Sofia, Hackett, Scott, Hayman, Grant, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Jain, Rashmi, Jolles, Stephen, Johnston, Sarah, Khan, Sujoy, Laffan, James, Lane, Peter, Leeman, Lucy, Lowe, David M, Mahabir, Shanti, Mac Lochlainn, Dylan James, McDermott, Elizabeth, Misbah, Siraj, Moghaddas, Fiona, Morsi, Hadeil, Murng, Sai, Noorani, Sadia, O’Brien, Rachael, Patel, Smita, Price, Arthur, Rahman, Tasneem, Seneviratne, Suranjith, Shrimpton, Anna, Stroud, Catherine, Thomas, Moira, Townsend, Katie, Vaitla, Prashantha, Verma, Nisha, Williams, Anthony, Burns, Siobhan O, Savic, Sinisa, Richter, Alex G
Published in Clinical and experimental immunology (31.01.2022)
Published in Clinical and experimental immunology (31.01.2022)
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
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Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.08.2023)
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