Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2) von Ghurye, Rohit R., Sundaram, Kruthika, Smith, Frances, Clark, Barnaby, Simpson, Michael A., Fairbanks, Lynette, Adhya, Zoe, Mufti, Ghulam J., Marsh, Judith C. W., Ibrahim, Mohammad A. A.

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Successful Treatment of a Patient with Chronic Systemic Capillary Leak Syndrome, Neutropenia and Thymoma von Ghurye, Rohit R., Khan, Asim, Yung, Timothy, Kiani-Alikhan, Sorena, Pyne, Debasish, Grigoriadou, Sofia

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Successful rapid push subcutaneous desensitization in a patient with delayed local hypersensitivity reactions to immunoglobulins von Ghurye, Rohit R., Bright, Philip, Lowe, David, Buckland, Matthew S.

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Bromodomain inhibition by JQ1 suppresses lipopolysaccharide-stimulated interleukin-6 secretion in multiple myeloma cells von Ghurye, Rohit R., Stewart, Helen J.S., Chevassut, Timothy J.

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Abdominal hereditary angio-oedema caught on magnetic resonance imaging von Siow, Mayven Tien Li, Robertson, Alexander Myles, Ghurye, Rohit R, Blaker, Paul A

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Galectin-1 stimulates monocyte chemotaxis via the p44/42 MAP kinase pathway and a pertussis toxin-sensitive pathway von Malik, Reshad K.J, Ghurye, Rohit R, Lawrence-Watt, Diana J, Stewart, Helen J.S

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Molecular detection of BRAF-V600E is superior to flow cytometry for disease evaluation in hairy cell leukaemia von Rider, Tom, Powell, Robert, Gover, R., Ansell, Richard, Bastow, Sarah, Ghurye, Rohit R., Stewart, Helen, Chevassut, Timothy

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Novel ADA 2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 ( DADA 2) von Ghurye, Rohit R., Sundaram, Kruthika, Smith, Frances, Clark, Barnaby, Simpson, Michael A., Fairbanks, Lynette, Adhya, Zoe, Mufti, Ghulam J., Marsh, Judith C. W., Ibrahim, Mohammad A. A.

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Successful rapid push subcutaneous desensitization in a patient with delayed local hypersensitivity reactions to immunoglobulins von Ghurye, Rohit R, Bright, Philip, Lowe, David, Buckland, Matthew S

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Successful Treatment of a Patient with Chronic Systemic Capillary Leak Syndrome, Neutropenia and Thymoma von Ghurye, Rohit R, Khan, Asim, Yung, Timothy, Kiani-Alikhan, Sorena, Pyne, Debasish, Grigoriadou, Sofia

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Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2) von Ghurye, Rohit R, Sundaram, Kruthika, Smith, Frances, Clark, Barnaby, Simpson, Michael A, Fairbanks, Lynette, Adhya, Zoe, Mufti, Ghulam J, Marsh, Judith C W, Ibrahim, Mohammad A A

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von 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.

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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations von 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

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes von 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.

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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension von Hernandez-Sanchez, Jules, Martin, Jennifer, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Gibbs, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Peacock, Andrew, Shamardina, Olga, Southgate, Laura, Morrell, Nicholas W, Aitman, Timothy, Bennett, David, Koziell, Ania, Ouwehand, Willem H, Perry, David, Raymond, F Lucy, Thrasher, Adrian, Fletcher, Debra, Penkett, Christopher J, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Frary, Amy, Rehnstrom, Karola, Austin, Steve, Bariana, Tadbir K, Collins, Peter, Erber, Wendy N, Favier, Remi, Furie, Bruce, Gattens, Michael, Gomez, Keith, Hart, Daniel, Kelly, Anne M, Lambert, Michele P, Lentaigne, Claire, Mathias, Mary, Payne, Jeanette, Pasi, John, Peerlinck, Kathelijne, Roughley, Catherine, Sivapalaratnam, Suthesh, Talks, Kate, Thachil, Jecko, Turro, Ernest, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q, Attwood, Antony, Daugherty, Louise, Megy, Karyn, Tuna, Salih, Lango-Allen, Hana, Richardson, Sylvia, Rankin, Stuart, McJannet, Coleen, Vogt, Julie, Maw, Anna, Armstrong, Ruth, Mehta, Sarju, Carmichael, Jenny, Allen, Louise, Firth, Helen, Doffinger, Rainer, Parker, Alasdair, Lees, Melissa, Gissen, Paul, Josifova, Dragana, Thomas, Ellen, Patch, Chris, Deshpande, Charu, Flinter, Frances, Wakeling, Emma, Brady, Angie, Clowes, Virginia, Moore, Anthony, Arno, Gavin, Grozeva, Detelina, Reid, Evan, Tischkowitz, Marc, Meehan, Sharon, Rue-Albrecht, Kevin, Chandra, Anita, Goddard, Sarah, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, McDermott, Elizabeth, Noorani, Sadia, Oksenhendler, Eric, Welch, Steve, Willcocks, Lisa

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