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1. A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom

Author: Yong, Patrick F.K., Coulter, Tanya, El-Shanawany, Tariq, Garcez, Tomaz, Hackett, Scott, Jain, Rashmi, Kiani-Alikhan, Sorena, Manson, Ania, Noorani, Sadia, Stroud, Catherine, Symons, Christine, Sargur, Ravishankar, Steele, Cathal, Alachkar, Hana, Anantharachagan, Ariharan, Arkwright, Peter D., Bernatoniene, Jolanta, Bhole, Malini, Brown, Lindsay, Buckland, Matthew, Burns, Siobhan, Chopra, Charu, Darroch, James, Drewe, Elizabeth, Edmonds, Jillian, Ekbote, Anjali, Elkhalifa, Shuayb, Goddard, Sarah, Grosse-Kreul, Dorothea, Gurugama, Padmalal, Hague, Rosie, Herriot, Richard, Herwadkar, Archana, Hughes, Stephen M., Jones, Laura, Lear, Sara, McDermott, Elizabeth, Kham Murng, Sai Hurng, Price, Arthur, Redenbaugh, Vyanka, Richter, Alex, Riordan, Andrew, Shackley, Fiona, Stichbury, Julia, Springett, Debbie, Tarzi, Michael D., Thomas, Moira, Vijayadurai, Pavaladurai, and Worth, Austen
Published: 2023
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2. Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor

Author: Lawless, Dylan, Allen, Hana Lango, Thaventhiran, James E.D., Goddard, Sarah, Burren, Oliver S., Robson, Evie, Peckham, Daniel, Smith, Kenneth G.C., and Savic, Sinisa
Published: 2023
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3. SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study

Author: 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., and Richter, Alex G.
Published: 2022
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4. 108 PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patterns

Author: Knox, Ainsley, primary, Platt, Craig, additional, Casanova, Jean-Laurent, additional, Seppänen, Mikko, additional, Sullivan, Kathleen, additional, Dutmer, Cullen, additional, Goddard, Sarah, additional, James, Elliot, additional, Dhamija, Radhika, additional, Shinawi, Marwan, additional, Barzaghi, Federica, additional, Boztug, Kaan, additional, Rosenzweig, Sergio, additional, Stojanovic, Maja, additional, Grönholm, Juha, additional, Arlabosse, Tiphaine, additional, Esty, Brittany, additional, Broides, Arnon, additional, Boisson, Bertrand, additional, and Romberg, Neil, additional
Published: 2024
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5. Prolonged viral shedding following COVID-19 infection in a rheumatoid patient on rituximab treatment

Author: Zahid, Aqsa, primary, Fahim, Ahmed, additional, Gupta, Latika, additional, Adenitan, Ajibade, additional, Sheeran, Tom, additional, and Goddard, Sarah, additional
Published: 2024
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6. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author: Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan
Published: 2021
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7. Monitoring Menstrual Health in the Sustainable Development Goals

Author: Loughnan, Libbet, Mahon, Thérèse, Goddard, Sarah, Bain, Robert, Sommer, Marni, Bobel, Chris, editor, Winkler, Inga T., editor, Fahs, Breanne, editor, Hasson, Katie Ann, editor, Kissling, Elizabeth Arveda, editor, and Roberts, Tomi-Ann, editor
Published: 2020
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8. An investigation into the role of endothelial cells and dendritic cells in the events leading to allograft tolerance or rejection following liver transplantation

Author: Goddard, Sarah
Subjects: 616, Chemokine receptors
Published: 2002

9. Prevalence of CFTR variants in PID patients with bronchiectasis - an important modifying co-factor

Author: Lawless, Dylan, primary, Allen, Hana Lango, additional, Thaventhiran, James E.D., additional, Goddard, Sarah, additional, Burren, Oliver S., additional, Robson, Evie, additional, Peckham, Daniel, additional, Smith, Kenneth G C, additional, and Savic, Sinisa, additional
Published: 2023
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10. Dose reductions in immunoglobulin replacement are associated with increased antibiotic usage in patients with antibody deficiency.

Author: Elhaj, Mohammed Omer, Richter, Alex G., Goddard, Sarah, and Shields, Adrian M.
Subjects: PELVIC inflammatory disease, PLASMA cell diseases, PRIMARY immunodeficiency diseases, PLASMA products
Abstract: .83 ht 1 Abbreviations: IgG, immunoglobulin G; IgRT, immunoglobulin replacement therapy; IQR, interquartile range. We demonstrate that, in previously stable patients, IgRT dose reductions lead to a reduction in trough IgG, which is associated with an increased frequency of infections requiring outpatient antibiotic use. [Extracted from the article]
Published: 2023
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11. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Author: Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Pediatrics, Foundation for the National Institutes of Health (FNIH), The Academy of Medical Sciences, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Paediatric Infectious Diseases / Rheumatology / Immunology, and ARD - Amsterdam Reproduction and Development
Subjects: VARIANT, LOCI, INTEGRATIVE ANALYSIS, General Physics and Astronomy, Cholestasis, Intrahepatic, TRIGLYCERIDE LEVELS, DISEASE, General Biochemistry, Genetics and Molecular Biology, Bile Acids and Salts, Pregnancy, Humans, MUTATION, Science & Technology, Multidisciplinary, Genomics England Research Consortium Collaborators, Infant, Newborn, NIHR BioResource, General Chemistry, GLUCOCORTICOID-RECEPTOR, Multidisciplinary Sciences, ALKALINE SPHINGOMYELINASE, Pregnancy Complications, INSIGHTS, Science & Technology - Other Topics, Premature Birth, Female, FASTING GLUCOSE, Genome-Wide Association Study
Abstract: Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility. ispartof: NATURE COMMUNICATIONS vol:13 issue:1 ispartof: location:England status: published
Published: 2022

12. Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience

Author: Shields, Adrian M., primary, Tadros, Susan, additional, Al-Hakim, Adam, additional, Nell, Jeremy M., additional, Lin, Me Me Nay, additional, Chan, Michele, additional, Goddard, Sarah, additional, Dempster, John, additional, Dziadzio, Magdalena, additional, Patel, Smita Y., additional, Elkalifa, Shuayb, additional, Huissoon, Aarnoud, additional, Duncan, Christopher J. A., additional, Herwadkar, Archana, additional, Khan, Sujoy, additional, Bethune, Claire, additional, Elcombe, Suzanne, additional, Thaventhiran, James, additional, Klenerman, Paul, additional, Lowe, David M., additional, Savic, Sinisa, additional, Burns, Siobhan O., additional, and Richter, Alex G., additional
Published: 2022
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13. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Author: Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D., Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G., Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R., Wort, Stephen J., Wharton, John, Gräf, Stefan, Morrell, Nicholas W., Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W, Laffan, Michael A, Maher, Eamonn, Markus, Hugh S, Ouwehand, Willem H, Perry, David, Raymond, F Lucy, Roberts, Irene, Smith, Kenneth, Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem H, Penkett, Christopher J, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Ashford, Sofie, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K, Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Peter, Erber, Wendy N, Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Hart, Daniel, Heemskerk, Johan WM, Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M, Laffan, Michael A, Lambert, Michele P, Lentaigne, Claire, Liesner, Ri, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M, Mumford, Andrew, Nurden, Paquita, Ouwehand, Willem H, Papadia, Sofia, Payne, Jeanette, Pasi, John, Perry, David J, Peerlinck, Kathelijne, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Tait, R Campbell, Talks, Kate, Thachil, Jecko, Turro, Ernest, Toh, Cheng-Hock, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Stirrups, Kathleen, Whitehorn, Deborah, Watt, Christopher, Attwood, Antony, Daugherty, Louise, Deevi, Sri VV, Halmagyi, Csaba, Hu, Fengyuan, James, Roger, Matser, Vera, Meacham, Stuart, Megy, Karyn, Penkett, Christopher J, Stirrups, Kathleen, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Carss, Keren, Greene, Daniel, Lango-Allen, Hana, Turro, Ernest, Astle, William, Greene, Daniel, Richardson, Sylvia, Turro, Ernest, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Bryson, Christine, Anderson, Julie, Fletcher, Debra, McJannet, Coleen, Stock, Sophie, Young, Tim, Wassmer, Evangeline, Sohal, Aman, Santra, Saikat, Vogt, Julie, Chitre, Manali, Krishnakumar, Deepa, Ambegaonkar, Gautum, Maw, Anna, Armstrong, Ruth, Park, Soo-Mi, Mehta, Sarju, Paterson, Joan, Carmichael, Jenny, Allen, Louise, Hensiek, Anke, Firth, Helen, Stein, Penelope, Deegan, Patrick, Doffinger, Rainer, Parker, Alasdair, Bitner-Glindzicz, Maria, Scott, Richard, Hurst, Jane, Rosser, Elisabeth, Lees, Melissa, Clement, Emma, Henderson, Robert, Thompson, Dorothy, Gardham, Alice, Gissen, Paul, Josifova, Dragana, Thomas, Ellen, Patch, Chris, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Canham, Natalie, Wakeling, Emma, Holder, Susan, Ghali, Neeti, Brady, Angie, Clowes, Virginia, MacLaren, Robert, Webster, Andrew, Moore, Anthony, Arno, Gavin, Michaelides, Michel, Rankin, Julia, Kurian, Manju, Murphy, Elaine, Carss, Keren, Sanchis-Juan, Alba, Erwood, Marie, Dewhurst, Eleanor, Grozeva, Detelina, Raymond, F Lucy, Reid, Evan, Woods, Geoff, Tischkowitz, Marc, Sandford, Richard, Ali, Sonia, Creaser-Myers, Amanda, Cookson, Victoria, DaCosta, Rosa, Dormand, Natalie, Ghataorhe, Pavandeep K, Greenhalgh, Alan, Huis in’t Veld, Anna, Kennedy, Fiona, Mackenzie Ross, Rob, Masati, Larahmie, Meehan, Sharon, Othman, Shokri, Pollock, Val, Polwarth, Gary, Rhodes, Christopher J, Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Tan, Yvonne, Wanjiku, Ivy, Wort, John, Smith, Kenneth, Kuijpers, Taco, Thrasher, Adrian, Thaventhiran, James, Brown, Matthew, Lango Allen, Hana, Simeoni, Ilenia, Staples, Emily, Samarghitean, Crina, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Stauss, Hans, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, and Yong, Patrick
Published: 2017
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14. Increased seroprevalence and improved antibody responses following third primary SARS-CoV-2 immunisation: an update from the COV-AD study

Author: Shields, Adrian M, primary, Faustini, Sian E., additional, Hill, Harriet J., additional, Al-Taei, Saly, additional, Tanner, Chloe, additional, Ashford, Fiona, additional, Workman, Sarita, additional, Moreira, Fernando, additional, Verma, Nisha, additional, Wagg, Hollie, additional, Heritage, Gail, additional, Campton, Naomi, additional, Stamataki, Zania, additional, Drayson, Mark T., additional, Klenerman, Paul, additional, Thaventhiran, James E. D., additional, Elkhalifa, Shuayb, additional, Goddard, Sarah, additional, Johnston, Sarah, additional, Huissoon, Aarnoud, additional, Bethune, Claire, additional, Elcombe, Suzanne, additional, Lowe, David M., additional, Patel, Smita Y., additional, Savic, Sinisa, additional, Richter, Alex G., additional, Burns, Siobhan O., additional, and Consortium, COVAD, additional
Published: 2022
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15. A Scheme to Promote Social Attention and Functional Language in Young Children with Communication Difficulties and Autistic Spectrum Disorder

Author: Smith, Carolyn, Goddard, Sarah, and Fluck, Michael
Abstract: This paper describes an approach to intervention that aims to foster the skill of young children with autistic spectrum disorder to share social attention and action to promote socially meaningful communication. It applies principles derived from research into pre-linguistic development. The efficacy of the approach was evaluated through both a formal research project and within a clinical setting of a Portage scheme with groups of three to five year olds with a severe delay in their ability to communicate/autistic spectrum disorder. Outcome measures showed significantly accelerated levels of participation in social games and associated development of communication skills.
Published: 2004

16. Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK

Author: Shields, Adrian M, primary, Anantharachagan, Ariharan, additional, Arumugakani, Gururaj, additional, Baker, Kenneth, additional, Bahal, Sameer, additional, Baxendale, Helen, additional, Bermingham, William, additional, Bhole, Malini, additional, Boules, Evon, additional, Bright, Philip, additional, Chopra, Charu, additional, Cliffe, Lucy, additional, Cleave, Betsy, additional, Dempster, John, additional, Devlin, Lisa, additional, Dhalla, Fatima, additional, Diwakar, Lavanya, additional, Drewe, Elizabeth, additional, Duncan, Christopher, additional, Dziadzio, Magdalena, additional, Elcombe, Suzanne, additional, Elkhalifa, Shuayb, additional, Gennery, Andrew, additional, Ghanta, Harichandrana, additional, Goddard, Sarah, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hayman, Grant, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jain, Rashmi, additional, Jolles, Stephen, additional, Johnston, Sarah, additional, Khan, Sujoy, additional, Laffan, James, additional, Lane, Peter, additional, Leeman, Lucy, additional, Lowe, David M, additional, Mahabir, Shanti, additional, Lochlainn, Dylan James Mac, additional, McDermott, Elizabeth, additional, Misbah, Siraj, additional, Moghaddas, Fiona, additional, Morsi, Hadeil, additional, Murng, Sai, additional, Noorani, Sadia, additional, O’Brien, Rachael, additional, Patel, Smita, additional, Price, Arthur, additional, Rahman, Tasneem, additional, Seneviratne, Suranjith, additional, Shrimpton, Anna, additional, Stroud, Catherine, additional, Thomas, Moira, additional, Townsend, Katie, additional, Vaitla, Prashantha, additional, Verma, Nisha, additional, Williams, Anthony, additional, Burns, Siobhan O, additional, Savic, Sinisa, additional, and Richter, Alex G, additional
Published: 2022
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17. SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings From The COV-AD Study

Author: Shields, Adrian M, primary, Faustini, Sian E., additional, Hill, Harriet J., additional, Al-Taei, Saly, additional, Tanner, Chloe, additional, Ashford, Fiona, additional, Workman, Sarita, additional, Moreira, Fernando, additional, Verma, Nisha, additional, Wagg, Hollie, additional, Heritage, Gail, additional, Campton, Naomi, additional, Stamataki, Zania, additional, Klenerman, Paul, additional, Goddard, Sarah, additional, Johnston, Sarah, additional, Huissoon, Aarnoud, additional, Bethune, Claire, additional, Elcombe, Suzanne, additional, Lowe, David M., additional, Patel, Smita Y., additional, Savic, Sinisa, additional, Burns, Siobhan O., additional, Richter, Alex G., additional, and Consortium, COV-AD, additional
Published: 2022
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18. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author: Thalhammer, Julian, primary, Kindle, Gerhard, additional, Nieters, Alexandra, additional, Rusch, Stephan, additional, Seppänen, Mikko R.J., additional, Fischer, Alain, additional, Grimbacher, Bodo, additional, Edgar, David, additional, Buckland, Matthew, additional, Mahlaoui, Nizar, additional, Ehl, Stephan, additional, Boztug, Kaan, additional, Brunner, Juergen, additional, Demel, Ulrike F., additional, Förster-Waldl, Elisabeth, additional, Gasteiger, Lukas M., additional, Göschl, Lisa, additional, Kojić, Marina, additional, Schroll, Andrea, additional, Seidel, Markus G., additional, Wintergerst, Uwe, additional, Wisgrill, Lukas, additional, Sharapova, Svetlana O., additional, Goffard, Jean-Christophe, additional, Kerre, Tessa, additional, Meyts, Isabelle, additional, Roosens, Fine, additional, Smet, Julie, additional, Haerynck, Filomeen, additional, Eric, Zelimir Pavle, additional, Milenova, Veneta, additional, Gagro, Alenka, additional, Richter, Darko, additional, Chovancova, Zita, additional, Hlavackova, Eva, additional, Litzman, Jiri, additional, Milota, Tomas, additional, Sediva, Anna, additional, Elaziz, Dalia Abd, additional, Alkady, Radwa Salaheldin, additional, El Sayed El Hawary, Rabab, additional, Eldash, Alia S., additional, Galal, Nermeen, additional, Lotfy, Sohilla, additional, Meshaal, Safa S., additional, Reda, Shereen M., additional, Sobh, Ali, additional, Elmarsafy, Aisha, additional, Brosselin, Pauline, additional, Courteille, Virginie, additional, De Vergnes, Nathalie, additional, Kracker, Sven, additional, Pergent, Martine, additional, Randrianomenjanahary, Philippe, additional, Ahrenstorf, Gerrit, additional, Albert, Michael H., additional, Ankermann, Tobias, additional, Atschekzei, Faranaz, additional, Baumann, Ulrich, additional, Becker, Benjamin C., additional, Behrends, Uta, additional, Belohradsky, Bernd H., additional, Biegner, Anika-Kerstin, additional, Binder, Nadine, additional, Bode, Sebastian F.N., additional, Boesecke, Christoph, additional, Boetticher, Benedikt, additional, Borte, Michael, additional, Borte, Stephan, additional, Classen, Carl Friedrich, additional, Dirks, Johannes, additional, Dückers, Gregor, additional, El-Helou, Sabine, additional, Ernst, Diana, additional, Fasshauer, Maria, additional, Fecker, Gisela, additional, Felgentreff, Kerstin, additional, Foell, Dirk, additional, Ghosh, Sujal, additional, Girschick, Hermann J., additional, Goldacker, Sigune, additional, Graf, Norbert, additional, Graf, Dagmar, additional, Greil, Johann, additional, Hanitsch, Leif Gunnar, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heine, Sabine I., additional, Henes, Joerg C., additional, Hoenig, Manfred, additional, Holzer, Ursula, additional, Holzinger, Dirk, additional, Horneff, Gerd, additional, Hundsdoerfer, Patrick, additional, Jablonka, Alexandra, additional, Jakoby, Donate, additional, Joean, Oana, additional, Kaiser-Labusch, Petra, additional, Klemann, Christian, additional, Kobbe, Robin, additional, Körholz, Julia, additional, Kramm, Christof M., additional, Krüger, Renate, additional, Landwehr-Kenzel, Sybille, additional, Lehmberg, Kai, additional, Liese, Johannes G., additional, Lippert, Conrad Ferdinand, additional, Maccari, Maria Elena, additional, Masjosthusmann, Katja, additional, Meinhardt, Andrea, additional, Metzler, Markus, additional, Morbach, Henner, additional, Müller, Ingo, additional, Naumann-Bartsch, Nora, additional, Neubert, Jennifer, additional, Niehues, Tim, additional, Peter, Hans-Hartmut, additional, Rieber, Nikolaus, additional, Ritterbusch, Henrike, additional, Rockstroh, Jürgen Kurt, additional, Roesler, Joachim, additional, Schauer, Uwe, additional, Scheible, Raphael, additional, Schmalzing, Marc, additional, Schmidt, Reinhold Ernst, additional, Schneider, Dominik T., additional, Schreiber, Stefan, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Schulze-Koops, Hendrik, additional, Schulze-Sturm, Ulf, additional, Schuster, Volker, additional, Schwaneck, Eva C., additional, Schwarz, Klaus, additional, Schwarze-Zander, Carolynne, additional, Sirin, Mehtap, additional, Skapenko, Alla, additional, Sogkas, Georgios, additional, Sparber-Sauer, Monika, additional, Speckmann, Carsten, additional, Steinmann, Sandra, additional, Stiehler, Sophie, additional, Tenbrock, Klaus, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Wasmuth, Jan-Christian, additional, Weiss, Michael, additional, Witte, Torsten, additional, Wittke, Kirsten, additional, Wittkowski, Helmut, additional, Zeuner, Rainald A., additional, Farmaki, Evangelia, additional, Hatzistilianou, Maria N., additional, Kakkas, Ioannis, additional, Kanariou, Maria G., additional, Kapousouzi, Androniki, additional, Liatsis, Emmanouil, additional, Maggina, Paraskevi, additional, Papadopoulou-Alataki, Efimia, additional, Raptaki, Maria, additional, Speletas, Matthaios, additional, Tantou, Sofia, additional, Goda, Vera, additional, Kriván, Gergely, additional, Marodi, Laszlo, additional, Abolhassani, Hassan, additional, Aghamohammadi, Asghar, additional, Rezaei, Nima, additional, Feighery, Conleth, additional, Leahy, Timothy Ronan, additional, Ryan, Paul, additional, Batzir, Nurit Assia, additional, Garty, Ben Zion, additional, Tamary, Hannah, additional, Aiuti, Alessandro, additional, Amodio, Donato, additional, Azzari, Chiara, additional, Barzaghi, Federica, additional, Baselli, Lucia A., additional, Cancrini, Caterina, additional, Carrabba, Maria, additional, Cazzaniga, Marco, additional, Cesaro, Simone, additional, Chinello, Matteo, additional, Danieli, Maria Giovanna, additional, Dellepiane, Rosa Maria, additional, Fabio, Giovanna, additional, Gambineri, Eleonora, additional, Lodi, Lorenzo, additional, Lougaris, Vassilios, additional, Marasco, Carolina, additional, Martire, Baldassarre, additional, Marzollo, Antonio, additional, Milito, Cinzia, additional, Moschese, Viviana, additional, Pignata, Claudio, additional, Plebani, Alessandro, additional, Porta, Fulvio, additional, Quinti, Isabella, additional, Ricci, Silvia, additional, Soresina, Annarosa, additional, Tommasini, Alberto, additional, Vacca, Angelo, additional, Vanessa, Clementina, additional, Blažienė, Audra, additional, Sitkauskiene, Brigita, additional, Gowin, Ewelina, additional, Heropolitańska-Pliszka, Edyta, additional, Pietrucha, Barbara, additional, Szaflarska, Anna, additional, Więsik-Szewczyk, Ewa, additional, Wolska-Kuśnierz, Beata, additional, Esteves, Isabel, additional, Faria, Emilia, additional, Marques, Laura Hora, additional, Neves, João Farela, additional, Silva, Susana L., additional, Teixeira, Carla, additional, Pereira da Silva, Sara, additional, Capilna, Brindusa Ruxandra, additional, Guseva, Marina N., additional, Shcherbina, Anna, additional, Bobcakova, Anna, additional, Ciznar, Peter, additional, Gabzdilova, Juliana, additional, Jesenak, Milos, additional, Kapustova, Lenka, additional, Orosova, Jaroslava, additional, Petrovicova, Otilia, additional, Raffac, Stefan, additional, Kopač, Peter, additional, Allende, Luis M., additional, Antolí, Arnau, additional, Blanch, Gemma Rocamora, additional, Carbone, Javier, additional, Dieli-Crimi, Romina, additional, Garcia-Prat, Marina, additional, Gil-Herrera, Juana, additional, Gonzalez-Granado, Luis Ignacio, additional, Agulló, Pilar Llobet, additional, Olbrich, Peter, additional, Parra-Martínez, Alba, additional, Paz-Artal, Estela, additional, Pleguezuelo, Daniel E., additional, Rodríguez, Nerea Salmón, additional, Sánchez-Ramón, Silvia, additional, Santos-Pérez, Juan Luis, additional, Solanich, Xavier, additional, Soler-Palacin, Pere, additional, González-Amores, Miriam, additional, Ekwall, Olov, additional, Fasth, Anders, additional, Bitzenhofer-Grüber, Michaela, additional, Candotti, Fabio, additional, Dimitriou, Florentia, additional, Heininger, Ulrich, additional, Holbro, Andreas, additional, Jandus, Peter, additional, Kolios, Antonios G.A., additional, Marschall, Karin, additional, Schmid, Jana Pachlopnik, additional, Posfay-Barbe, Klara M., additional, Prader, Seraina, additional, Reichenbach, Janine, additional, Steiner, Urs C., additional, Trück, Johannes, additional, Bredius, Robbert G., additional, de Kruijf- Bazen, Suzanne, additional, de Vries, Esther, additional, Henriet, Stefanie S.V., additional, Kuijpers, Taco W., additional, Potjewijd, Judith, additional, Rutgers, Abraham, additional, Stol, Kim, additional, van Aerde, Koen J., additional, Van den Berg, J. Merlijn, additional, van de Ven, Annick A.J.M., additional, Montfrans, Jorisvan, additional, Aydemir, Sezin, additional, Baris, Safa, additional, Dogu, Figen, additional, Ikinciogullari, Aydan, additional, Karakoc-Aydiner, Elif, additional, Kilic, Sara S., additional, Kiykim, Ayca, additional, Kökçü Karadağ, Şefika İlknur, additional, Kutukculer, Necil, additional, Ocak, Suheyla, additional, UNAL, Ekrem, additional, Boyarchuk, Oksana, additional, Hilfanova, Anna, additional, Kostyuchenko, Larysa V., additional, Alachkar, Hana, additional, Arkwright, Peter D., additional, Baxendale, Helen E., additional, Bernatoniene, Jolanta, additional, Coulter, Tanya I., additional, Garcez, Tomaz, additional, Goddard, Sarah, additional, Gompels, Mark M., additional, Grigoriadou, Sofia, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Ibberson, Lisa, additional, Nademi, Zoreh, additional, Noorani, Sadia, additional, Parvin, Shahnaz, additional, Steele, Cathal Laurence, additional, Thomas, Moira, additional, Waruiru, Catherine, additional, Yong, Patrick F.K., additional, and Bourne, Helen, additional
Published: 2021
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19. Outcomes Following SARS-CoV-2 Infection in Patients With Primary and Secondary Immunodeficiency in The United Kingdom

Author: Shields, Adrian M, primary, Anantharachagan, Ariharan, additional, Arumugakani, Gururaj, additional, Baker, Kenneth, additional, Bahal, Sameer, additional, Baxendale, Helen, additional, Bermingham, William, additional, Bhole, Malini, additional, Boules, Evon, additional, Bright, Philip, additional, Chopra, Charu, additional, Cliffe, Lucy, additional, Cleave, Betsy, additional, Dempster, John, additional, Devlin, Lisa, additional, Dhalla, Fatima, additional, Diwakar, Lavanya, additional, Drewe, Elizabeth, additional, Duncan, Christopher, additional, Dziadzio, Magdalena, additional, Elcombe, Suzanne, additional, Elkhalifa, Shuayb, additional, Gennery, Andrew, additional, Ghanta, Harichandrana, additional, Goddard, Sarah, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hayman, Grant, additional, Herriot, Richard, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jain, Rashmi, additional, Jolles, Stephen, additional, Johnston, Sarah, additional, Khan, Sujoy, additional, Laffan, James, additional, Lane, Peter, additional, Leeman, Lucy, additional, Lowe, David M., additional, Mahabir, Shanti, additional, Lochlainn, Dylan James Mac, additional, McDermott, Elizabeth, additional, Misbah, Siraj, additional, Moghaddas, Fiona, additional, Morsi, Hadeil, additional, Murng, Sai, additional, Noorani, Sadia, additional, O’Brien, Rachael, additional, Patel, Smita, additional, Price, Arthur, additional, Rahman, Tasneem, additional, Senevirantne, Suranjith, additional, Shrimpton, Anna, additional, Stroud, Catherine, additional, Thomas, Moira, additional, Townsend, Katie, additional, Vaitla, Prashantha, additional, Verma, Nisha, additional, Williams, Anthony, additional, Burns, Siobhan O., additional, Savic, Sinisa, additional, and Richter, Alex G., additional
Published: 2021
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20. Whole-genome sequencing of patients with rare diseases in a national health system

Author: Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, University of Cambridge [UK] (CAM), John Wyeth & Brother Limited, Medical Research Council (MRC), Wellcome Trust, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, and Project, NIHR BioResource for the 100,000 Genomes
Subjects: 0301 basic medicine, Erythrocytes, Internationality, Databases, Factual, National Health Programs, [SDV]Life Sciences [q-bio], Disease, VARIANTS, Genome, State Medicine, NIHR BioResource for the 100,000 Genomes Project, 0302 clinical medicine, Medicine, GATA1 Transcription Factor, Genetics, Multidisciplinary, Translational bioinformatics, ASSOCIATION, 3. Good health, Multidisciplinary Sciences, Phenotype, 030220 oncology & carcinogenesis, disease genetics, Medical genetics, Science & Technology - Other Topics, Receptors, Thrombopoietin, medicine.medical_specialty, General Science & Technology, Quantitative Trait Loci, Genomics, Computational biology, Biology, DIAGNOSIS, computational biology and bioinformatics, Actin-Related Protein 2-3 Complex, Article, LRBA, LINKS, 03 medical and health sciences, Rare Diseases, Humans, Alleles, Adaptor Proteins, Signal Transducing, Whole genome sequencing, National health, Science & Technology, Whole Genome Sequencing, MUTATIONS, business.industry, THROMBOCYTOPENIA, United Kingdom, MACROTHROMBOCYTOPENIA, genetics research, 030104 developmental biology, business, Rare disease
Abstract: Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
Published: 2021

21. Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of [TCRαβ.sup.+] T cells

Author: Morgan, Neil V., Goddard, Sarah, Cardno, Tony S., McDonald, David, Rahman, Fatimah, Barge, Dawn, Ciupek, Andrew, Straatman-Iwanowska, Anna, Pasha, Shanaz, Guckian, Mary, Anderson, Graham, Huissoon, Aarnoud, Cant, Andrew, Tate, Warren P., Hambleton, Sophie, and Maher, Eamonn R.
Subjects: T cells -- Properties, Autoimmunity -- Research, Disease susceptibility -- Genetic aspects -- Risk factors, Health care industry
Abstract: Inherited immunodeficiency disorders can be caused by mutations in any one of a large number of genes involved in the function of immune cells. Here, we describe two families with an autosomal recessive inherited immunodeficiency disorder characterized by increased susceptibility to infection and autoimmunity. Genetic linkage studies mapped the disorder to chromosomal region 14q11.2, and a homozygous guanine-to-adenine substitution was identified at the last base of exon 3 immediately following the translational termination codon in the TCRα subunit constant gene (TRAC). RT-PCR analysis in the two affected individuals revealed impaired splicing of themRNA, as exon 3 was lost from the TRAC transcript. The mutant TCRα chain protein was predicted to lack part of the connecting peptide domain and all of the transmembrane and cytoplasmic domains, which have a critical role in the regulation of the assembly and/or intracellular transport of TCR complexes. We found that T cells from affected individuals were profoundly impaired for surface expression of the TCRαβ complex. We believe this to be the first report of a disease-causing human TRAC mutation. Although the absence of [TCRαβ.sup.+] T cells in the affected individuals was associated with immune dysregulation and autoimmunity, they had a surprising level of protection against infection., Introduction Inherited immunodeficiencies have provided novel insights into T and B cell development and immune function. Failure of T cell development, of whatever cause, produces the clinical syndrome of SCID, [...]
Published: 2011
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22. Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD Study.

Author: 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, Drayson, Mark T., Klenerman, Paul, Thaventhiran, James E. D., Elkhalifa, Shuayb, Goddard, Sarah, Johnston, Sarah, and Huissoon, Aarnoud
Subjects: ANTIBODY formation, PRIMARY immunodeficiency diseases, SARS-CoV-2, COVID-19 vaccines, IMMUNIZATION
Abstract: Background: Patients with primary and secondary antibody deficiency are vulnerable to COVID-19 and demonstrate diminished responses following two-dose SARS-CoV-2 vaccine schedules. Third primary vaccinations have been deployed to enhance their humoral and cellular immunity. Objectives: To determine the immunogenicity of the third primary SARS-CoV-2 immunisation in a heterogeneous cohort of patients with antibody deficiency. Methods: Participants enrolled in the COV-AD study were sampled before and after their third vaccine dose. Serological and cellular responses were determined using ELISA, livevirus neutralisation and ELISPOT assays. Results: Following a two-dose schedule, 100% of healthy controls mounted a serological response to SARS-CoV-2 vaccination, however, 38.6% of individuals with antibody deficiency remained seronegative. A third primary SARS-CoV-2 vaccine significantly increased anti-spike glycoprotein antibody seroprevalence from 61.4% to 76.0%, the magnitude of the antibody response, its neutralising capacity and induced seroconversion in individuals who were seronegative after two vaccine doses. Vaccine-induced serological responses were broadly cross-reactive against the SARS-CoV-2 B.1.1.529 variant of concern, however, seroprevalence and antibody levels remained significantly lower than healthy controls. No differences in serological responses were observed between individuals who received AstraZeneca ChAdOx1 nCoV-19 and Pfizer BioNTech 162b2 during their initial two-dose vaccine schedule. SARS-CoV-2 infectionnaive participants who had received a heterologous vaccine as a third dose were significantly more likely to have a detectable T cell response following their third vaccine dose (61.5% vs 11.1%). Conclusion: These data support the widespread use of third primary immunisations to enhance humoral immunity against SARS-CoV-2 in individuals with antibody deficiency. [ABSTRACT FROM AUTHOR]
Published: 2022
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23. Impact of stopping long‐term immunoglobulin therapy in patients with secondary antibody deficiency due to haematological disease

Author: Goddard, Sarah, primary, Diwakar, Lavanya, additional, Hughes, Deborah, additional, Clarke, Daniel, additional, and Graham, Jane, additional
Published: 2021
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24. COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience

Author: Shields, Adrian M., primary, Burns, Siobhan O., additional, Savic, Sinisa, additional, Richter, Alex G., additional, Anantharachagan, Ariharan, additional, Arumugakani, Gururaj, additional, Baker, Kenneth, additional, Bahal, Sameer, additional, Bermingham, William, additional, Bhole, Malini, additional, Boules, Evon, additional, Bright, Philip, additional, Burns, Siobhan, additional, Cleave, Betsy, additional, Dempster, John, additional, Devlin, Lisa, additional, Dhalla, Fatima, additional, Drewe, Elizabeth, additional, Duncan, Christopher, additional, Dziadzio, Magdalena, additional, Elkhalifa, Shuayb, additional, Gennery, Andrew, additional, Goddard, Sarah, additional, Grigoriadou, Sofia, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jain, Rashmi, additional, Jolles, Stephen, additional, Johnston, Sarah, additional, Leeman, Lucy, additional, Mahabir, Shanti, additional, MacLochlainn, Dylan, additional, McDermott, Elizabeth, additional, Misbah, Siraj, additional, Morsi, Hadeil, additional, Murng, Sai, additional, Noorani, Sadia, additional, O’Brien, Rachael, additional, Patel, Smita, additional, Price, Arthur, additional, Richter, Alex, additional, Seneviratne, Suranjith, additional, Shields, Adrian, additional, Shrimpton, Anna, additional, Stroud, Catherine, additional, Vaitla, Prashantha, additional, and Verma, Nisha, additional
Published: 2021
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25. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Author: Swietlik, Emilia M., primary, Greene, Daniel, additional, Zhu, Na, additional, Megy, Karyn, additional, Cogliano, Marcella, additional, Rajaram, Smitha, additional, Pandya, Divya, additional, Tilly, Tobias, additional, Lutz, Katie A., additional, Welch, Carrie C.L., additional, Pauciulo, Michael W., additional, Southgate, Laura, additional, Martin, Jennifer M., additional, Treacy, Carmen M., additional, Penkett, Christopher J., additional, Stephens, Jonathan C., additional, Bogaard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Coleman, Anna W., additional, Condliffe, Robin, additional, Eichstaedt, Christina A., additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghio, Stefano, additional, Girerd, Barbara, additional, Grünig, Ekkehard, additional, Holden, Simon, additional, Howard, Luke, additional, Humbert, Marc, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lordan, Jim, additional, Machado, Rajiv D., additional, MacKenzie Ross, Robert V., additional, McCabe, Colm, additional, Moledina, Shahin, additional, Montani, David, additional, Olschewski, Horst, additional, Pepke-Zaba, Joanna, additional, Price, Laura, additional, Rhodes, Christopher J., additional, Seeger, Werner, additional, Soubrier, Florent, additional, Suntharalingam, Jay, additional, Toshner, Mark R., additional, Vonk Noordegraaf, Anton, additional, Wharton, John, additional, Wild, James M., additional, Wort, Stephen John, additional, Lawrie, Allan, additional, Wilkins, Martin R., additional, Trembath, Richard C., additional, Shen, Yufeng, additional, Chung, Wendy K., additional, Swift, Andrew J., additional, Nichols, William C., additional, Morrell, Nicholas W., additional, Gräf, Stefan, additional, Abbs, Stephen, additional, Abulhoul, Lara, additional, Adlard, Julian, additional, Ahmed, Munaza, additional, Aitman, Timothy J., additional, Alachkar, Hana, additional, Allsup, David J., additional, Ancliff, Philip, additional, Antrobus, Richard, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Ashford, Sofie, additional, Astle, William J., additional, Attwood, Anthony, additional, Aurora, Paul, additional, Babbs, Christian, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Banka, Siddharth, additional, Bariana, Tadbir, additional, Barwell, Julian, additional, Batista, Joana, additional, Baxendale, Helen E., additional, Beales, Phil L., additional, Bennett, David L., additional, Bierzynska, Agnieszka, additional, Biss, Tina, additional, Bitner-Glindzicz, Maria A.K., additional, Black, Graeme C., additional, Bleda, Marta, additional, Blesneac, Iulia, additional, Bockenhauer, Detlef, additional, Boyce, Sara, additional, Bradley, John R., additional, Breen, Gerome, additional, Brennan, Paul, additional, Brewer, Carole, additional, Brown, Matthew, additional, Browning, Andrew C., additional, Browning, Michael J., additional, Buchan, Rachel J., additional, Buckland, Matthew S., additional, Bueser, Teofila, additional, Diz, Carmen Bugarin, additional, Burn, John, additional, Burns, Siobhan O., additional, Burren, Oliver S., additional, Burrows, Nigel, additional, Campbell, Carolyn, additional, Carr-White, Gerald, additional, Carss, Keren, additional, Casey, Ruth, additional, Caulfield, Mark J., additional, Chambers, Jenny, additional, Chambers, John, additional, Chan, Melanie M.Y., additional, Cheng, Floria, additional, Chinnery, Patrick F., additional, Chitre, Manali, additional, Christian, Martin T., additional, Clayton-Smith, Jill, additional, Cleary, Maureen, additional, Brod, Naomi Clements, additional, Colby, Elizabeth, additional, Cole, Trevor R.P., additional, Collins, Janine, additional, Collins, Peter W., additional, Compton, Cecilia J., additional, Cook, H. Terence, additional, Cook, Stuart, additional, Cooper, Nichola, additional, Corris, Paul A., additional, Curry, Nicola S., additional, Daniels, Matthew J., additional, Dattani, Mehul, additional, Daugherty, Louise C., additional, Davis, John, additional, De Soyza, Anthony, additional, Deevi, Sri V.V., additional, Dent, Timothy, additional, Deshpande, Charu, additional, Dewhurst, Eleanor F., additional, Dixon, Peter H., additional, Douzgou, Sofia, additional, Downes, Kate, additional, Drazyk, Anna M., additional, Drewe, Elizabeth, additional, Duarte, Daniel, additional, Dutt, Tina, additional, Edgar, J. David M., additional, Edwards, Karen, additional, Egner, William, additional, Ekani, Melanie N., additional, Elliott, Perry, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Estiu, Maria C., additional, Evans, Dafydd Gareth, additional, Evans, Gillian, additional, Everington, Tamara, additional, Fassihi, Hiva, additional, Favier, Remi, additional, Fletcher, Debra, additional, Flinter, Frances A., additional, Floto, R. Andres, additional, Fowler, Tom, additional, Fox, James, additional, Frary, Amy J., additional, French, Courtney E., additional, Freson, Kathleen, additional, Frontini, Mattia, additional, Furnell, Abigail, additional, Gale, Daniel P., additional, Ganesan, Vijeya, additional, Gattens, Michael, additional, Ghofrani, Hossein-Ardeschir, additional, Gibbs, J. Simon R., additional, Gibson, Kate, additional, Gilmour, Kimberly C., additional, Gleadall, Nicholas S., additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavels, additional, Gosal, David, additional, Graham, Jodie, additional, Grassi, Luigi, additional, Greenhalgh, Lynn, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Griffiths, Philip, additional, Grigoriadou, Sofia, additional, Grozeva, Detelina, additional, Gurnell, Mark, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Hague, William M., additional, Haimel, Matthias, additional, Hall, Matthew, additional, Hanson, Helen L., additional, Haque, Eshika, additional, Harkness, Kirsty, additional, Harper, Andrew R., additional, Harris, Claire L., additional, Hart, Daniel, additional, Hassan, Ahamad, additional, Hayman, Grant, additional, Henderson, Alex, additional, Herwadkar, Archana, additional, Hoffman, Jonathan, additional, Horvath, Rita, additional, Houlden, Henry, additional, Houweling, Arjan C., additional, Hu, Fengyuan, additional, Hudson, Gavin, additional, Huissoon, Aarnoud P., additional, Hurles, Matthew, additional, Irving, Melita, additional, Izatt, Louise, additional, James, Roger, additional, Johnson, Sally A., additional, Jolles, Stephen, additional, Jolley, Jennifer, additional, Josifova, Dragana, additional, Jurkute, Neringa, additional, Kasanicki, Mary A., additional, Kazkaz, Hanadi, additional, Kazmi, Rashid, additional, Kelleher, Peter, additional, Kelly, Anne M, additional, Kelsall, Wilf, additional, Kempster, Carly, additional, Kingston, Nathalie, additional, Koelling, Nils, additional, Kostadima, Myrto, additional, Koziell, Ania, additional, Kreuzhuber, Roman, additional, Kuijpers, Taco W., additional, Kumar, Ajith, additional, Kumararatne, Dinakantha, additional, Kurian, Manju A., additional, Laffan, Michael A., additional, Lalloo, Fiona, additional, Lambert, Michele, additional, Allen, Hana Lango, additional, Layton, D. Mark, additional, Lentaigne, Claire, additional, Lester, Tracy, additional, Levine, Adam P., additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena E., additional, Louka, Eleni, additional, Lyons, Paul A., additional, Madan, Bella, additional, Maher, Eamonn R., additional, Maimaris, Jesmeen, additional, Malka, Samantha, additional, Mangles, Sarah, additional, Mapeta, Rutendo, additional, Marchbank, Kevin J., additional, Marks, Stephen, additional, Markus, Hugh S., additional, Marschall, Hanns-Ulrich, additional, Marshall, Andrew, additional, Mathias, Mary, additional, Matthews, Emma, additional, Maxwell, Heather, additional, McAlinden, Paul, additional, McCarthy, Mark I., additional, McKinney, Harriet, additional, Meacham, Stuart, additional, Mead, Adam J., additional, Mehta, Sarju G., additional, Michaelides, Michel, additional, Millar, Carolyn, additional, Mohammed, Shehla N., additional, Moore, Anthony T., additional, Mozere, Monika, additional, Muir, Keith W., additional, Mumford, Andrew D., additional, Nemeth, Andrea H., additional, Newman, William G., additional, Newnham, Michael, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, O’Sullivan, Jennifer, additional, Obaji, Samya, additional, Odhams, Chris, additional, Okoli, Steven, additional, Olschewski, Andrea, additional, Ong, Kai Ren, additional, Oram, S. Helen, additional, Ormondroyd, Elizabeth, additional, Ouwehand, Willem H., additional, Palles, Claire, additional, Papadia, Sofia, additional, Park, Soo-Mi, additional, Parry, David, additional, Patel, Smita, additional, Paterson, Joan, additional, Peacock, Andrew, additional, Pearce, Simon H., additional, Peerlinck, Kathelijne, additional, Petersen, Romina, additional, Pilkington, Clarissa, additional, Poole, Kenneth E.S., additional, Psaila, Bethan, additional, Pyle, Angela, additional, Quinton, Richard, additional, Rahman, Shamima, additional, Rao, Anupama, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula J., additional, Rendon, Augusto, additional, Renton, Tara, additional, Rice, Andrew S.C., additional, Richter, Alex, additional, Robert, Leema, additional, Roberts, Irene, additional, Rose, Sarah J., additional, Ross-Russell, Robert, additional, Roughley, Catherine, additional, Roy, Noemi B.A., additional, Ruddy, Deborah M., additional, Sadeghi-Alavijeh, Omid, additional, Saleem, Moin A., additional, Samani, Nilesh, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sargur, Ravishankar B., additional, Sarkany, Robert N., additional, Satchell, Simon, additional, Savic, Sinisa, additional, Sayer, Genevieve, additional, Sayer, John A., additional, Scelsi, Laura, additional, Schaefer, Andrew M., additional, Schulman, Sol, additional, Scott, Richard, additional, Scully, Marie, additional, Searle, Claire, additional, Sen, Arjune, additional, Sewell, W.A. Carrock, additional, Seyres, Denis, additional, Shah, Neil, additional, Shamardina, Olga, additional, Shapiro, Susan E., additional, Shaw, Adam C., additional, Sibson, Keith, additional, Side, Lucy, additional, Simeoni, Ilenia, additional, Simpson, Michael A., additional, Sims, Matthew C., additional, Sivapalaratnam, Suthesh, additional, Smedley, Damian, additional, Smith, Katherine R., additional, Smith, Kenneth G.C., additional, Snape, Katie, additional, Soranzo, Nicole, additional, Spasic-Boskovic, Olivera, additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stirrups, Kathleen E., additional, Stuckey, Alex, additional, Syrris, Petros, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Rhea Y.Y., additional, Taylor, Jenny C., additional, Taylor, John M., additional, Thaventhiran, James E., additional, Themistocleous, Andreas C., additional, Thomas, David, additional, Thomas, Ellen, additional, Thomas, Moira J., additional, Thomas, Patrick, additional, Thomson, Kate, additional, Thrasher, Adrian J., additional, Thys, Chantal, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Tomlinson, Ian P., additional, Traylor, Matthew, additional, Treadaway, Paul, additional, Tuna, Salih, additional, Turro, Ernest, additional, Twiss, Philip, additional, Vale, Tom, additional, Van Geet, Chris, additional, van Zuydam, Natalie, additional, Vandersteen, Anthony M, additional, Vazquez-Lopez, Marta, additional, von Ziegenweidt, Julie, additional, Wagner, Annette, additional, Waisfisz, Quinten, additional, Walker, Neil, additional, Walker, Suellen M., additional, Ware, James S., additional, Watkins, Hugh, additional, Watt, Christopher, additional, Webster, Andrew R., additional, Wedderburn, Lucy, additional, Wei, Wei, additional, Welch, Steven B., additional, Wessels, Julie, additional, Westbury, Sarah K., additional, Westwood, John-Paul, additional, Whitehorn, Deborah, additional, Whitworth, James, additional, Wilkie, Andrew O.M., additional, Williamson, Catherine, additional, Wilson, Brian T., additional, Wong, Edwin K.S., additional, Wood, Nicholas, additional, Wood, Yvette, additional, Woods, Christopher Geoffrey, additional, Woodward, Emma R., additional, Worth, Austen, additional, Wright, Michael, additional, Yates, Katherine, additional, Yong, Patrick F.K., additional, Young, Timothy, additional, Yu, Ping, additional, Yu-Wai-Man, Patrick, additional, Zlamalova, Eliska, additional, Hirsch, Russel, additional, White, R. James, additional, Simon, Marc, additional, Badesch, David, additional, Rosenzweig, Erika, additional, Burger, Charles, additional, Chakinala, Murali, additional, Thenappan, Thenappan, additional, Elliott, Greg, additional, Simms, Robert, additional, Farber, Harrison, additional, Frantz, Robert, additional, Elwing, Jean, additional, Hill, Nicholas, additional, Ivy, Dunbar, additional, Klinger, James, additional, Nathan, Steven, additional, Oudiz, Ronald, additional, Robbins, Ivan, additional, Schilz, Robert, additional, Fortin, Terry, additional, Wilt, Jeffrey, additional, Yung, Delphine, additional, Austin, Eric, additional, Ahmad, Ferhaan, additional, Bhatt, Nitin, additional, Lahm, Tim, additional, Frost, Adaani, additional, Safdar, Zeenat, additional, Rehman, Zia, additional, Walter, Robert, additional, Torres, Fernando, additional, Bakshi, Sahil, additional, Archer, Stephen, additional, Argula, Rahul, additional, Barnett, Christopher, additional, Benza, Raymond, additional, Desai, Ankit, additional, and Maddipati, Veeranna, additional
Published: 2021
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26. Publisher Correction:Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

Author: 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, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and ACS - Atherosclerosis & ischemic syndromes
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2020

27. Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Author: 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., Tait, R. Campbell, Chalmers, Elizabeth, Hague, Rosie, Maxwell, Heather, Peacock, Andrew J., Mark, Patrick B., and Muir, Keith W.
Abstract: Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune disease, allergy is prevalent and up to 10% develop lymphoid malignancies1,2,3. Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the role of genetics is not well defined. Here we address these challenges by performing whole-genome sequencing in a large PID cohort of 1,318 participants. An analysis of the coding regions of the genome in 886 index cases of PID found that disease-causing mutations in known genes that are implicated in monogenic PID occurred in 10.3% of these patients, and a Bayesian approach (BeviMed4) identified multiple new candidate PID-associated genes, including IVNS1ABP. We also examined the noncoding genome, and found deletions in regulatory regions that contribute to disease causation. In addition, we used a genome-wide association study to identify loci that are associated with PID, and found evidence for the colocalization of—and interplay between—novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci). This begins to explain the contribution of common variants to the variable penetrance and phenotypic complexity that are observed in PID. Thus, using a cohort-based whole-genome-sequencing approach in the diagnosis of PID can increase diagnostic yield and further our understanding of the key pathways that influence immune responsiveness in humans.
Published: 2020

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

Author: Lorenzini, Tiziana, primary, Fliegauf, Manfred, additional, Klammer, Nils, additional, Frede, Natalie, additional, Proietti, Michele, additional, Bulashevska, Alla, additional, Camacho-Ordonez, Nadezhda, additional, Varjosalo, Markku, additional, Kinnunen, Matias, additional, de Vries, Esther, additional, van der Meer, Jos W.M., additional, Ameratunga, Rohan, additional, Roifman, Chaim M., additional, Schejter, Yael D., additional, Kobbe, Robin, additional, Hautala, Timo, additional, Atschekzei, Faranaz, additional, Schmidt, Reinhold E., additional, Schröder, Claudia, additional, Stepensky, Polina, additional, Shadur, Bella, additional, Pedroza, Luis A., additional, van der Flier, Michiel, additional, Martínez-Gallo, Mónica, additional, Gonzalez-Granado, Luis Ignacio, additional, Allende, Luis M., additional, Shcherbina, Anna, additional, Kuzmenko, Natalia, additional, Zakharova, Victoria, additional, Neves, João Farela, additional, Svec, Peter, additional, Fischer, Ute, additional, Ip, Winnie, additional, Bartsch, Oliver, additional, Barış, Safa, additional, Klein, Christoph, additional, Geha, Raif, additional, Chou, Janet, additional, Alosaimi, Mohammed, additional, Weintraub, Lauren, additional, Boztug, Kaan, additional, Hirschmugl, Tatjana, additional, Dos Santos Vilela, Maria Marluce, additional, Holzinger, Dirk, additional, Seidl, Maximilian, additional, Lougaris, Vassilios, additional, Plebani, Alessandro, additional, Alsina, Laia, additional, Piquer-Gibert, Monica, additional, Deyà-Martínez, Angela, additional, Slade, Charlotte A., additional, Aghamohammadi, Asghar, additional, Abolhassani, Hassan, additional, Hammarström, Lennart, additional, Kuismin, Outi, additional, Helminen, Merja, additional, Allen, Hana Lango, additional, Thaventhiran, James E., additional, Freeman, Alexandra F., additional, Cook, Matthew, additional, Bakhtiar, Shahrzad, additional, Christiansen, Mette, additional, Cunningham-Rundles, Charlotte, additional, Patel, Niraj C., additional, Rae, William, additional, Niehues, Tim, additional, Brauer, Nina, additional, Syrjänen, Jaana, additional, Seppänen, Mikko R.J., additional, Burns, Siobhan O., additional, Tuijnenburg, Paul, additional, Kuijpers, Taco W., additional, Warnatz, Klaus, additional, Grimbacher, Bodo, additional, Adhya, Zoe, additional, Alachkar, Hana, additional, Anantharachagan, Ariharan, additional, Antrobus, Richard, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William J., additional, Attwood, Anthony, additional, Bacchelli, Chiara, additional, Batista, Joana, additional, Baxendale, Helen E., additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bleda, Marta, additional, Boardman, Barbara, additional, Booth, Claire, additional, Bradley, John R., additional, Breen, Gerome, additional, Brown, Matthew, additional, Browning, Michael J., additional, Brownlie, Mary, additional, Buckland, Matthew S., additional, Burren, Oliver S., additional, Carss, Keren, additional, Chambers, John, additional, Chandra, Anita, additional, Brod, Naomi Clements, additional, Clifford, Hayley, additional, Cooper, Nichola, additional, Daugherty, Louise C., additional, Davies, E.G., additional, Davies, Sophie, additional, Davis, John, additional, Deacock, Sarah, additional, Deevi, Sri V.V., additional, Dempster, John, additional, Devlin, Lisa A., additional, Dewhurst, Eleanor F., additional, Downes, Kate, additional, Drewe, Elizabeth, additional, Duarte, Daniel, additional, Edgar, J. David M., additional, Edwards, Karen, additional, Egner, William, additional, El-Shanawany, Tariq, additional, Erwood, Marie, additional, Fletcher, Debra, additional, Fox, James, additional, Frary, Amy J., additional, Frontini, Mattia, additional, Furnell, Abigail, additional, Gaspar, H. Bobby, additional, Ghurye, Rohit, additional, Gilmour, Kimberly C., additional, Gleadall, Nicholas S., additional, Goddard, Sarah, additional, Gordins, Pavels, additional, Gräf, Stefan, additional, Grassi, Luigi, additional, Greene, Daniel, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Harper, Lorraine, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Hu, Fengyuan, additional, Hughes, Stephen, additional, Huissoon, Aarnoud P., additional, James, Roger, additional, Jolles, Stephen, additional, Jolley, Jennifer, additional, Jones, Julie, additional, Karim, Yousuf, additional, Kasanicki, Mary A., additional, Kelleher, Peter, additional, Kempster, Carly, additional, Kiani, Sorena, additional, Kingston, Nathalie, additional, Klein, Nigel, additional, Kostadima, Myrto, additional, Kreuzhuber, Roman, additional, Kumararatne, Dinakantha, additional, Laffan, James, additional, Lear, Sara E., additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena E., additional, Lyons, Paul A., additional, Maimaris, Jesmeen, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Martin, Jennifer, additional, McCarthy, Mark I., additional, McDermott, Elizabeth M., additional, McKinney, Harriet, additional, Meacham, Stuart, additional, Megy, Karyn, additional, Millar, Hazel, additional, Mistry, Anoop, additional, Morrisson, Valerie, additional, Murng, Sai H.K., additional, Nasir, Iman, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Oksenhendler, Eric, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Penkett, Christopher J., additional, Petersen, Romina, additional, Ponsford, Mark J., additional, Qasim, Waseem, additional, Quinn, Ellen, additional, Quinti, Isabella, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula J., additional, Richter, Alex, additional, Samani, Nilesh, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sargur, Ravishankar B., additional, Savic, Sinisa, additional, Seneviratne, Suranjith L., additional, Sewell, W.A. Carrock, additional, Seyres, Denis, additional, Shackley, Fiona, additional, Shamardina, Olga, additional, Simeoni, Ilenia, additional, Simpson, Michael A., additional, Smith, Kenneth G.C., additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stauss, Hans, additional, Steele, Cathal L., additional, Stephens, Jonathan, additional, Stirrups, Kathleen E., additional, Thomas, David, additional, Thomas, Moira J., additional, Thomas, Patrick, additional, Thrasher, Adrian J., additional, Tilly, Tobias, additional, Titterton, Catherine, additional, Treadaway, Paul, additional, Tuna, Salih, additional, Turro, Ernest, additional, Urniaz, Rafal, additional, von Ziegenweidt, Julie, additional, Walker, Neil, additional, Watt, Christopher, additional, Welch, Steven B., additional, Whitehorn, Deborah, additional, Willcocks, Lisa, additional, Wood, Nicholas, additional, Wood, Yvette, additional, Workman, Sarita, additional, Worth, Austen, additional, Yates, Katherine, additional, Yeatman, Nigel, additional, Yong, Patrick F.K., additional, Young, Timothy, additional, Yu, Ping, additional, and Zlamalova, Eliska, additional
Published: 2020
Full Text: View/download PDF

29. Accessories take center stage: fashion-forward accessories have become an attractive, less costly alternative for freshening existing spiritwear uniforms

Author: Goddard, Sarah
Subjects: Uniforms, Business, Fashion, accessories and textiles industries, Sports, sporting goods and toys industry
Abstract: Though some may say the team and spiritwear accessories market hasn't changed much during the past three to five years, there's no doubt that the role accessories play within the [...]
Published: 2011

30. Run with it: ASICS' latest flagship blends exclusive runner amenities with innovative technological features

Author: Goddard, Sarah
Subjects: Asics Corp., Runners (Sports), Athletic shoe industry, Semiconductor industry, Semiconductor industry, Architecture and design industries, Retail industry
Abstract: When athletic footwear and apparel company ASICS Corp. decided to create a new flagship store in Amsterdam, the intent was to increase brand awareness and develop brand loyalty, but also [...]
Published: 2011

31. T-shirts still an industry staple: while other apparel options feature more bells and whistles than ever before, the basic T-shirt has remained many apparel decorators' bread and butter

Author: Goddard, Sarah
Subjects: Business, Fashion, accessories and textiles industries, Sports, sporting goods and toys industry
Abstract: It's no wonder that apparel decorators measure the industry's status by blank T-shirt sales. After all, they are a basic form of our favorite fabric and substrate: cotton. So when [...]
Published: 2011

32. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Author: Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Ines, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stephanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe GN, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, Ross, Robert V MacKenzie, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Noordegraaf, Anton Vonk, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Tregouet, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Graf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, Wilkins, Martin R, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F, Christian, Martin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri VV, Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C, Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mlanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Geoghegan, Claire, Gerighty, Terry, Gibbs, Simon, Gilmour, Kimberley, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hague, William, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael, Lalloo, Fiona, Lambert, Michele, Allen, Hana Lango, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S, Marschall, Hanns-Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moore, Tony, Morrell, Nicholas, Mozere, Monika, Muir, Keith, Mumford, Andrew, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Ong, Kai Ren, Ormondroyd, Elizabeth, Ouwehand, Willem, Papadia, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F Lucy, Rayner-Matthews, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Schulman, Sol, Scully, Marie, Searle, Claire, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth GC, Snape, Katie, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Swietlik, Emilia, Tait, R Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, Von Ziegenweidt, Julie, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Whitehorn, Deborah, Whitworth, James, Williamson, Catherine, Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Theuer, Alison, Malur, Anagha, Williams, Ann, Dotson, Anne, Warden, Ashley, Harrington, Brandy, Vang, Brenda, Ziemak, Caitlin, Casanova, Nancy, Caskey, Elizabeth, MacDonald, Catherine, Rowley, Courtney, Larimore, Daniel, Brady, Daniela, Tomer, David, Davis, Anne, Broach, Debra, Devereux, Jane, Lovato, Ellen, Stratton, Eric, Turk, Erin, Jackson, Esperanza, Paciotti, Gina, Peichel, Gretchen, Birru, Hellina, del Junco, Holly, Ingledue, Rebecca, Bruno, Jackie, Drake, Jan, Marks, Jennifer, Pisarcik, Jessica, Spears, Jill, Santiago, Joseph, DeMartino, Jordyn, Beckmann, Joy, Palmer, Julia, Visnaw, Karen, Kennedy, Karla, Lewis, Karlise, Miller-Reed, Kathleen, Hannon, Kelly, McClain, Kimberly, Dillon, Laura, Olanipekun, Lekan, Mendibles, Lillian, Hawke, Lindsey, Brody, Linnea, Durst, Louise, Andrews, Mary, Allahua, Melissa, Stratoberdha, Melissa, Lemma, Merte, Cope, Molly, Franzo, Mya, Feliz, Natalia, Hawkes, Nicholas, Norwood, Tracy, Wilson, Opal, Palmisciano, Amy, Gruhlke, Peggy, Correa, Priscilla, Blake, Randy, Karnekar, Reema, Do, Robyn, Rohwer, Kristal, Ahmed, Sara, Schiltz, Kimberly, Scovel, Page, Cordell, Shannon, Heuerman, Sharon, Ahmad, Shazzra, Szuberla, Sylwia, Roads, Tammy, Iem, Thoeun, Mcgaha, Traci, Urban, Tracy, Aston, Valerie, Ayesh, Waleed, Light, Allison, Arkon, Abby, Tavlarides, Andrea, Anderson, Audrey, Bindu, John, Boekwig, Deedre, Singleton, Donna, Abrea, Inna, Lee, Jennifer, Ormiston, Mark, Whitman, Renesa, Holy, Royanne, Almeida-Peters, Sisama, Igenoza, Tosin, Farber, Hap, Reponen, Auvo, Barve, Mukta, Gygi, Amber, and Winslow, Clayborne
Subjects: ALPHA, Science & Technology, Critical Care Medicine, ENDODERM FORMATION, General & Internal Medicine, Respiratory System, SUSCEPTIBILITY, SOX17, Life Sciences & Biomedicine, DISEASE
Abstract: BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes. METHODS: We did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses. FINDINGS: A locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10-15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10-20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10-12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SOX17 expression. The HLA-DPA1/DPB1 rs2856830 genotype was strongly associated with survival. Median survival from diagnosis in patients with pulmonary arterial hypertension with the C/C homozygous genotype was double (13·50 years [95% CI 12·07 to >13·50]) that of those with the T/T genotype (6·97 years [6·02-8·05]), despite similar baseline disease severity. INTERPRETATION: This is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials. FUNDING: UK NIHR, BHF, UK MRC, Dinosaur Trust, NIH/NHLBI, ERS, EMBO, Wellcome Trust, EU, AHA, ACClinPharm, Netherlands CVRI, Dutch Heart Foundation, Dutch Federation of UMC, Netherlands OHRD and RNAS, German DFG, German BMBF, APH Paris, INSERM, Université Paris-Sud, and French ANR. ispartof: LANCET RESPIRATORY MEDICINE vol:7 issue:3 pages:227-238 ispartof: location:England status: published
Published: 2019

33. New approaches to immunosuppression in liver transplantation

Author: GODDARD, SARAH and ADAMS, DAVID H
Published: 2002

34. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018)

Author: Farmery, James HR, Smith, Mike L, Lynch, Andy G, Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P, Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J, Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, in't Veld, Anna Huis, Maw, Anna, Kelly, Anne M, Moore, Anthony, Noordegraaf, Anton Vonk, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C, Girerd, Barbara, Furie, Bruce, Treacy, Carmen M, Millar, Carolyn M, Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Van Geet, Chris, Babbs, Christian, Bryson, Christine, Penkett, Christopher J, Rhodes, Christopher J, Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G, Gosal, David, Perry, David J, Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin KS, Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H Terry, Alachkar, Hana, Allen, Hana Lango, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J, Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S, Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J Simon R, Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M, Martin, Jennifer, Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan WM, Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R, Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth GC, Carss, Keren, Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A, Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P, Makris, Mike, De Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, Melanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Van Zuydam, Natalie, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W, Yeatman, Nigel, Roy, Noemi, Shamardina, Olga, Alavijeh, Omid S, Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Yu-Wai-Man, Patrick, Corris, Paul A, Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K, Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, MackenzieRoss, Rob V, Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, DaCosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri VV, Graf, Stefan, Ghio, Stefano, Wort, Stephen J, Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W, Bariana, Tadbir K, Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q, Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N, Ouwehand, Willem H, Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, and Dis, NIHR BioResource-Rare
Published: 2018

35. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Author: Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis In'T., Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Furie, Bruce, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, de Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, M. lanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Man, Patrick Yu Wai, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, Mackenzieross, Rob V., Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, Dacosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, Lynch, Andy G., Other departments, ARD - Amsterdam Reproduction and Development, Paediatric Infectious Diseases / Rheumatology / Immunology, Peerlinck, Kathelijne, Freson, Kathleen, University of St Andrews. Statistics, University of St Andrews. School of Medicine, University of St Andrews. Population and Behavioural Science Division, University of St Andrews. Cellular Medicine Division, Rue-Albrecht, K, VU University medical center, ACS - Pulmonary hypertension & thrombosis, Pulmonary medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, ACS - Atherosclerosis & ischemic syndromes, Molecular cell biology and Immunology, Pediatric surgery, APH - Aging & Later Life, Lynch, Andy G [0000-0002-7876-7338], and Apollo - University of Cambridge Repository
Subjects: Telomerase, Carcinoma, Hepatocellular, Genotype, Science, QH301 Biology, Induced Pluripotent Stem Cells, Primary Cell Culture, Sequencing data, Gene Expression, Computational biology, Biology, Article, RC0254, 03 medical and health sciences, QH301, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Humans, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, Ploidies, Multidisciplinary, Whole Genome Sequencing, Telomere biology, RC0254 Neoplasms. Tumors. Oncology (including Cancer), Liver Neoplasms, Telomere Homeostasis, Mesenchymal Stem Cells, DAS, Telomere, Publisher Correction, T Technology, Cancer data, 030220 oncology & carcinogenesis, Medicine, Ploidy, Algorithms
Abstract: Funding: Cancer Research UK Programme Grant to Simon Tavaré (C14303/A17197) (JHRF, AGL, MLS); European Commission through the Horizon 2020 project SOUND (Grant Agreement no. 633974) (AGL). Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights into telomere biology on a previously unimaginable scale. To this end, a number of approaches for estimating telomere length from whole-genome sequencing data have been proposed. Here we present Telomerecat, a novel approach to the estimation of telomere length. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors. We show that Telomerecat performs well at telomere length estimation when compared to leading experimental and computational methods. Furthermore, we show that it detects expected patterns in longitudinal data, repeated measurements, and cross-species comparisons. We also apply the method to a cancer cell data, uncovering an interesting relationship with the underlying telomerase genotype. Publisher PDF
Published: 2018

36. Erratum to: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (Scientific Reports, (2018), 8, 1, (1300), 10.1038/s41598-017-14403-y)

Author: Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis in’t, Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Furie, Bruce, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, Mcjannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, Mcdermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Fengyuan, Hu, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Martin, Jennifer, Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Carss, Keren, Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, Mccarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, De Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, Mélanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Yu-Wai-Man, Patrick, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Ping, Yu, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, Mackenzieross, Rob V., Henderson, Robert, Maclaren, Robert, James, Roger, Ghurye, Rohit, Dacosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, Mcgowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, and Lynch, Andy G.
Subjects: Multidisciplinary
Published: 2018

37. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author: Gorman, Kathleen M., primary, Meyer, Esther, additional, Grozeva, Detelina, additional, Spinelli, Egidio, additional, McTague, Amy, additional, Sanchis-Juan, Alba, additional, Carss, Keren J., additional, Bryant, Emily, additional, Reich, Adi, additional, Schneider, Amy L., additional, Pressler, Ronit M., additional, Simpson, Michael A., additional, Debelle, Geoff D., additional, Wassmer, Evangeline, additional, Morton, Jenny, additional, Sieciechowicz, Diana, additional, Jan-Kamsteeg, Eric, additional, Paciorkowski, Alex R., additional, King, Mary D., additional, Cross, J. Helen, additional, Poduri, Annapurna, additional, Mefford, Heather C., additional, Scheffer, Ingrid E., additional, Haack, Tobias B., additional, McCullagh, Gary, additional, Millichap, John J., additional, Carvill, Gemma L., additional, Clayton-Smith, Jill, additional, Maher, Eamonn R., additional, Raymond, F. Lucy, additional, Kurian, Manju A., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V. K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J., additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I. Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, Hurles, Matthew E., additional, Al Turki, Saeed, additional, Anderson, Carl, additional, Anney, Richard, additional, Antony, Dinu, additional, Artigas, Maria Soler, additional, Ayub, Muhammad, additional, Balasubramaniam, Senduran, additional, Barroso, Inês, additional, Beales, Phil, additional, Bentham, Jamie, additional, Bhattacharya, Shoumo, additional, Birney, Ewan, additional, Blackwood, Douglas, additional, Bobrow, Martin, additional, Bochukova, Elena, additional, Bolton, Patrick, additional, Bounds, Rebecca, additional, Boustred, Chris, additional, Breen, Gerome, additional, Calissano, Mattia, additional, Carss, Keren, additional, Chatterjee, Krishna, additional, Chen, Lu, additional, Ciampi, Antonio, additional, Cirak, Sebhattin, additional, Clapham, Peter, additional, Clement, Gail, additional, Coates, Guy, additional, Collier, David, additional, Cosgrove, Catherine, additional, Cox, Tony, additional, Craddock, Nick, additional, Crooks, Lucy, additional, Curran, Sarah, additional, Curtis, David, additional, Daly, Allan, additional, Day-Williams, Aaron, additional, Day, Ian N.M., additional, Down, Thomas, additional, Du, Yuanping, additional, Dunham, Ian, additional, Edkins, Sarah, additional, Ellis, Peter, additional, Evans, David, additional, Faroogi, Sadaf, additional, Fatemifar, Ghazaleh, additional, Fitzpatrick, David R., additional, Flicek, Paul, additional, Flyod, James, additional, Foley, A. Reghan, additional, Franklin, Christopher S., additional, Futema, Marta, additional, Gallagher, Louise, additional, Geihs, Matthias, additional, Geschwind, Daniel, additional, Griffin, Heather, additional, Guo, Xueqin, additional, Guo, Xiaosen, additional, Gurling, Hugh, additional, Hart, Deborah, additional, Hendricks, Audrey, additional, Holmans, Peter, additional, Howie, Bryan, additional, Huang, Liren, additional, Hubbard, Tim, additional, Humphries, Steve E., additional, Hysi, Pirro, additional, Jackson, David K., additional, Jamshidi, Yalda, additional, Jing, Tian, additional, Joyce, Chris, additional, Kaye, Jane, additional, Keane, Thomas, additional, Keogh, Julia, additional, Kemp, John, additional, Kennedy, Karen, additional, Kolb-Kokocinski, Anja, additional, Lachance, Genevieve, additional, Langford, Cordelia, additional, Lawson, Daniel, additional, Lee, Irene, additional, Lek, Monkol, additional, Liang, Jieqin, additional, Lin, Hong, additional, Li, Rui, additional, Li, Yingrui, additional, Liu, Ryan, additional, Lönnqvist, Jouko, additional, Lopes, Margarida, additional, Iotchkova, Valentina, additional, MacArthur, Daniel, additional, Marchini, Jonathan, additional, Maslen, John, additional, Massimo, Mangino, additional, Mathieson, Iain, additional, Marenne, Gaëlle, additional, McGuffin, Peter, additional, McIntosh, Andrew, additional, McKechanie, Andrew G., additional, McQuillin, Andrew, additional, Metrustry, Sarah, additional, Mitchison, Hannah, additional, Moayyeri, Alireza, additional, Morris, James, additional, Muntoni, Francesco, additional, Northstone, Kate, additional, O'Donnovan, Michael, additional, Onoufriadis, Alexandros, additional, O'Rahilly, Stephen, additional, Oualkacha, Karim, additional, Owen, Michael J., additional, Palotie, Aarno, additional, Panoutsopoulou, Kalliope, additional, Parker, Victoria, additional, Parr, Jeremy R., additional, Paternoster, Lavinia, additional, Paunio, Tiina, additional, Payne, Felicity, additional, Pietilainen, Olli, additional, Plagnol, Vincent, additional, Quaye, Lydia, additional, Quail, Michael A., additional, Rehnström, Karola, additional, Ring, Susan, additional, Ritchie, Graham R.S., additional, Roberts, Nicola, additional, Savage, David B., additional, Scambler, Peter, additional, Schiffels, Stephen, additional, Schmidts, Miriam, additional, Schoenmakers, Nadia, additional, Semple, Robert K., additional, Serra, Eva, additional, Sharp, Sally I., additional, Shin, So-Youn, additional, Skuse, David, additional, Small, Kerrin, additional, Southam, Lorraine, additional, Spasic-Boskovic, Olivera, additional, St Clair, David, additional, Stalker, Jim, additional, Stevens, Elizabeth, additional, St Pourcian, Beate, additional, Sun, Jianping, additional, Suvisaari, Jaana, additional, Tachmazidou, Ionna, additional, Tobin, Martin D., additional, Valdes, Ana, additional, Van Kogelenberg, Margriet, additional, Visscher, Peter M., additional, Wain, Louise V., additional, Walters, James T.R., additional, Wang, Guangbiao, additional, Wang, Jun, additional, Wang, Yu, additional, Ward, Kirsten, additional, Wheeler, Elanor, additional, Whyte, Tamieka, additional, Williams, Hywel, additional, Williamson, Kathleen A., additional, Wilson, Crispian, additional, Wong, Kim, additional, Xu, ChangJiang, additional, Yang, Jian, additional, Zhang, Fend, additional, Zhang, Pingbo, additional, Aitman, Timothy, additional, Alachkar, Hana, additional, Ali, Sonia, additional, Allen, Louise, additional, Allsup, David, additional, Ambegaonkar, Gautum, additional, Anderson, Julie, additional, Antrobus, Richard, additional, Arno, Gavin, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William, additional, Attwood, Antony, additional, Austin, Steve, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Baxendale, Helen, additional, Bennett, David, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bleda, Marta, additional, Boggard, Harm, additional, Bolton-Maggs, Paula, additional, Booth, Claire, additional, Bradley, John R., additional, Brady, Angie, additional, Brown, Matthew, additional, Browning, Michael, additional, Bryson, Christine, additional, Burns, Siobhan, additional, Calleja, Paul, additional, Carmichael, Jenny, additional, Caulfield, Mark, additional, Chalmers, Elizabeth, additional, Chandra, Anita, additional, Chinnery, Patrick, additional, Chitre, Manali, additional, Church, Colin, additional, Clement, Emma, additional, Clements-Brod, Naomi, additional, Coghlan, Gerry, additional, Collins, Peter, additional, Cooper, Nichola, additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Daugherty, Louise, additional, Davies, Sophie, additional, Davis, John, additional, De Vries, Minka, additional, Deegan, Patrick, additional, Deevi, Sri V.V., additional, Devlin, Lisa, additional, Dewhurst, Eleanor, additional, Doffinger, Rainer, additional, Dormand, Natalie, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Everington, Tamara, additional, Favier, Remi, additional, Firth, Helen, additional, Fletcher, Debra, additional, Fox, James C., additional, Frary, Amy, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Furnell, Abigail, additional, Gale, Daniel, additional, Gardham, Alice, additional, Gattens, Michael, additional, Ghataorhe, Pavandeep K., additional, Ghurye, Rohit, additional, Gibbs, Simon, additional, Gilmour, Kimberley, additional, Gissen, Paul, additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavel, additional, Gräf, Stefan, additional, Greene, Daniel, additional, Greenhalgh, Alan, additional, Greinacher, Andreas, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Halmagyi, Csaba, additional, Hammerton, Tracey, additional, Hart, Daniel, additional, Hayman, Grant, additional, Heemskerk, Johan W.M., additional, Henderson, Robert, additional, Hensiek, Anke, additional, Henskens, Yvonne, additional, Herwadkar, Archana, additional, Hu, Fengyuan, additional, Huissoon, Aarnoud, additional, Humbert, Marc, additional, James, Roger, additional, Jolles, Stephen, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelleher, Peter, additional, Kelly, Anne M., additional, Kennedy, Fiona, additional, Kiely, David, additional, Kingston, Nathalie, additional, Koziell, Ania, additional, Krishnakumar, Deepa, additional, Kuijpers, Taco W., additional, Kumararatne, Dinakantha, additional, Kurian, Manju, additional, Laffan, Michael A., additional, Lambert, Michele P., additional, Allen, Hana Lango, additional, Lawrie, Allan, additional, Lear, Sara, additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Machado, Rajiv, additional, Mackenzie, Rob, additional, MacLaren, Robert, additional, Maher, Eamonn, additional, Maimaris, Jesmeen, additional, Mangles, Sarah, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Markus, Hugh S., additional, Martin, Jennifer, additional, Masati, Larahmie, additional, Mathias, Mary, additional, Matser, Vera, additional, Maw, Anna, additional, McDermott, Elizabeth, additional, McJannet, Coleen, additional, Meacham, Stuart, additional, Meehan, Sharon, additional, Megy, Karyn, additional, Michaelides, Michel, additional, Millar, Carolyn M., additional, Moledina, Shahin, additional, Moore, Anthony, additional, Morrell, Nicholas, additional, Mumford, Andrew, additional, Murng, Sai, additional, Murphy, Elaine, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, Oksenhendler, Eric, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Parker, Alasdair, additional, Pasi, John, additional, Patch, Chris, additional, Payne, Jeanette, additional, Peacock, Andrew, additional, Peerlinck, Kathelijne, additional, Penkett, Christopher J., additional, Pepke-Zaba, Joanna, additional, Perry, David J., additional, Pollock, Val, additional, Polwarth, Gary, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Rankin, Stuart, additional, Rehnstrom, Karola, additional, Reid, Evan, additional, Rhodes, Christopher J., additional, Richards, Michael, additional, Richardson, Sylvia, additional, Richter, Alex, additional, Roberts, Irene, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Rue-Albrecht, Kevin, additional, Samarghitean, Crina, additional, Santra, Saikat, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scully, Marie, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Shamardina, Olga, additional, Shipley, Debbie, additional, Simeoni, Ilenia, additional, Sivapalaratnam, Suthesh, additional, Smith, Kenneth, additional, Sohal, Aman, additional, Southgate, Laura, additional, Staines, Simon, additional, Staples, Emily, additional, Stauss, Hans, additional, Stein, Penelope, additional, Stephens, Jonathan, additional, Stirrups, Kathleen, additional, Stock, Sophie, additional, Suntharalingam, Jay, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Yvonne, additional, Thachil, Jecko, additional, Thaventhiran, James, additional, Thomas, Ellen, additional, Thomas, Moira, additional, Thompson, Dorothy, additional, Thrasher, Adrian, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Toshner, Mark, additional, Treacy, Carmen, additional, Trembath, Richard, additional, Tuna, Salih, additional, Turek, Wojciech, additional, Turro, Ernest, additional, Van Geet, Chris, additional, Veltman, Marijke, additional, von Ziegenweldt, Julie, additional, Vonk Noordegraaf, Anton, additional, Wanjiku, Ivy, additional, Warner, Timothy Q., additional, Watkins, Hugh, additional, Webster, Andrew, additional, Welch, Steve, additional, Westbury, Sarah, additional, Wharton, John, additional, Whitehorn, Deborah, additional, Wilkins, Martin, additional, Willcocks, Lisa, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Wort, John, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Young, Tim, additional, and Yu, Ping, additional
Published: 2019
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38. Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Author: Tuijnenburg, Paul, primary, Lango Allen, Hana, additional, Burns, Siobhan O., additional, Greene, Daniel, additional, Jansen, Machiel H., additional, Staples, Emily, additional, Stephens, Jonathan, additional, Carss, Keren J., additional, Biasci, Daniele, additional, Baxendale, Helen, additional, Thomas, Moira, additional, Chandra, Anita, additional, Kiani-Alikhan, Sorena, additional, Longhurst, Hilary J., additional, Seneviratne, Suranjith L., additional, Oksenhendler, Eric, additional, Simeoni, Ilenia, additional, de Bree, Godelieve J., additional, Tool, Anton T.J., additional, van Leeuwen, Ester M.M., additional, Ebberink, Eduard H.T.M., additional, Meijer, Alexander B., additional, Tuna, Salih, additional, Whitehorn, Deborah, additional, Brown, Matthew, additional, Turro, Ernest, additional, Thrasher, Adrian J., additional, Smith, Kenneth G.C., additional, Thaventhiran, James E., additional, Kuijpers, Taco W., additional, Adhya, Zoe, additional, Alachkar, Hana, additional, Anantharachagan, Ariharan, additional, Antrobus, Richard, additional, Arumugakani, Gururaj, additional, Bacchelli, Chiara, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Boardman, Barbara, additional, Booth, Claire, additional, Browning, Michael, additional, Brownlie, Mary, additional, Burns, Siobhan, additional, Clifford, Hayley, additional, Cooper, Nichola, additional, Davies, Sophie, additional, Dempster, John, additional, Devlin, Lisa, additional, Doffinger, Rainer, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, El-Shanawany, Tariq, additional, Gaspar, Bobby, additional, Ghurye, Rohit, additional, Gilmour, Kimberley, additional, Goddard, Sarah, additional, Gordins, Pavel, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hague, Rosie, additional, Harper, Lorraine, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Hughes, Stephen, additional, Huissoon, Aarnoud, additional, Jolles, Stephen, additional, Jones, Julie, additional, Kelleher, Peter, additional, Klein, Nigel, additional, Kuijpers, Taco, additional, Kumararatne, Dinakantha, additional, Laffan, James, additional, Lear, Sara, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Maimaris, Jesmeen, additional, Manson, Ania, additional, McDermott, Elizabeth, additional, Millar, Hazel, additional, Mistry, Anoop, additional, Morrisson, Valerie, additional, Murng, Sai, additional, Nasir, Iman, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinn, Ellen, additional, Quinti, Isabella, additional, Richter, Alex, additional, Samarghitean, Crina, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Seneviratne, Suranjith, additional, Sewall, Carrock, additional, Shackley, Fiona, additional, Stauss, Hans, additional, Steele, Cathal, additional, Thaventhiran, James, additional, Thrasher, Adrian, additional, Welch, Steve, additional, Willcocks, Lisa, additional, Workman, Sarita, additional, Worth, Austen, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Ashford, Sofie, additional, Bradley, John, additional, Fletcher, Debra, additional, Hammerton, Tracey, additional, James, Roger, additional, Kingston, Nathalie, additional, Ouwehand, Willem, additional, Penkett, Christopher, additional, Raymond, F Lucy, additional, Stirrups, Kathleen, additional, Veltman, Marijke, additional, Young, Tim, additional, Clements-Brod, Naomi, additional, Davis, John, additional, Dewhurst, Eleanor, additional, Erwood, Marie, additional, Frary, Amy, additional, Linger, Rachel, additional, Martin, Jennifer, additional, Papadia, Sofia, additional, Rehnstrom, Karola, additional, Astle, William, additional, Attwood, Antony, additional, Bleda, Marta, additional, Carss, Keren, additional, Daugherty, Louise, additional, Deevi, Sri, additional, Graf, Stefan, additional, Halmagyi, Csaba, additional, Haimel, Matthias, additional, Hu, Fengyuan, additional, Matser, Vera, additional, Meacham, Stuart, additional, Megy, Karyn, additional, Shamardina, Olga, additional, Titterton, Catherine, additional, Yu, Ping, additional, von Ziegenweldt, Julie, additional, Furnell, Abigail, additional, Mapeta, Rutendo, additional, Staines, Simon, additional, Rayner-Matthews, Paula, additional, and Watt, Christopher, additional
Published: 2018
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39. International offshore domiciles gaining captives

Author: McLeod, Douglas, MacDermott, Matthew, Wojcik, Joanne, Souter, Gavin, Martin, Sara, Goddard, Sarah, Tilley, Kate, Higgins, Yvette, and Kielmas, Maria
Subjects: Captive insurance companies -- Location, Business, Insurance, Location
Abstract: British Virgin Islands The British Virgin Islands is seeing more interest in captive formations as it stakes out a position as a cost-effective domicile for small insurers. The B.V.I. finished [...]
Published: 1998

40. Gear bag: no matter what segments of the spiritwear or team markets you serve, the following products are sure to be a hit this year for you and your consumers

Author: Goddard, Sarah
Subjects: Business, Fashion, accessories and textiles industries, Sports, sporting goods and toys industry
Abstract: The Double Dry Interlock T-shirt (style CW22) and Women's Double Dry V-Neck T-shirt (style CW23) from Champion are made of 4.1-ounce, 100% polyester single-knit interlock jersey. These performance T-shirts wick [...]
Published: 2011

41. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Author: Ito, Yoko, primary, Carss, Keren J., additional, Duarte, Sofia T., additional, Hartley, Taila, additional, Keren, Boris, additional, Kurian, Manju A., additional, Marey, Isabelle, additional, Charles, Perinne, additional, Mendonça, Carla, additional, Nava, Caroline, additional, Pfundt, Rolph, additional, Sanchis-Juan, Alba, additional, van Bokhoven, Hans, additional, van Essen, Anthony, additional, van Ravenswaaij-Arts, Conny, additional, Boycott, Kym M., additional, Kernohan, Kristin D., additional, Dyack, Sarah, additional, Raymond, F. Lucy, additional, Aitman, Timothy, additional, Bennett, David, additional, Caulfield, Mark, additional, Chinnery, Patrick, additional, Gale, Daniel, additional, Koziell, Ania, additional, Kuijpers, Taco W., additional, Laffan, Michael A., additional, Maher, Eamonn, additional, Markus, Hugh S., additional, Morrell, Nicholas W., additional, Ouwehand, Willem H., additional, Perry, David J., additional, Roberts, Irene, additional, Smith, Kenneth G.C., additional, Thrasher, Adrian, additional, Watkins, Hugh, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Ashford, Sofie, additional, Bradley, John R., additional, Fletcher, Debra, additional, Hammerton, Tracey, additional, James, Roger, additional, Kingston, Nathalie, additional, Penkett, Christopher J., additional, Stirrups, Kathleen, additional, Veltman, Marijke, additional, Young, Tim, additional, Brown, Matthew, additional, Clements-Brod, Naomi, additional, Davis, John, additional, Dewhurst, Eleanor, additional, Dolling, Helen, additional, Erwood, Marie, additional, Frary, Amy, additional, Linger, Rachel, additional, Martin, Jennifer M., additional, Papadia, Sofia, additional, Rehnstrom, Karola, additional, Stark, Hannah, additional, Allsup, David, additional, Austin, Steve, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Bolton-Maggs, Paula, additional, Chalmers, Elizabeth, additional, Collins, Janine, additional, Collins, Peter, additional, Erber, Wendy N., additional, Everington, Tamara, additional, Favier, Remi, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Gattens, Michael, additional, Gebhart, Johanna, additional, Gomez, Keith, additional, Greene, Daniel, additional, Greinacher, Andreas, additional, Gresele, Paolo, additional, Hart, Daniel, additional, Heemskerk, Johan W.M., additional, Henskens, Yvonne, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelly, Anne M., additional, Lambert, Michele P., additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Makris, Mike, additional, Mangles, Sarah, additional, Mathias, Mary, additional, Millar, Carolyn M., additional, Mumford, Andrew, additional, Nurden, Paquita, additional, Payne, Jeanette, additional, Pasi, John, additional, Peerlinck, Kathelijne, additional, Revel-Vilk, Shoshana, additional, Richards, Michael, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scully, Marie, additional, Sivapalaratnam, Suthesh, additional, Stubbs, Matthew, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Thachil, Jecko, additional, Toh, Cheng-Hock, additional, Turro, Ernest, additional, Van Geet, Chris, additional, De Vries, Minka, additional, Warner, Timothy Q., additional, Watson, Henry, additional, Westbury, Sarah, additional, Furnell, Abigail, additional, Mapeta, Rutendo, additional, Rayner-Matthews, Paula, additional, Simeoni, Ilenia, additional, Staines, Simon, additional, Stephens, Jonathan, additional, Watt, Christopher, additional, Whitehorn, Deborah, additional, Attwood, Antony, additional, Daugherty, Louise, additional, Deevi, Sri V.V., additional, Halmagyi, Csaba, additional, Hu, Fengyuan, additional, Matser, Vera, additional, Meacham, Stuart, additional, Megy, Karyn, additional, Shamardina, Olga, additional, Titterton, Catherine, additional, Tuna, Salih, additional, Yu, Ping, additional, von Ziegenweldt, Julie, additional, Astle, William, additional, Bleda, Marta, additional, Gräf, Stefan, additional, Haimel, Matthias, additional, Lango-Allen, Hana, additional, Richardson, Sylvia, additional, Calleja, Paul, additional, Rankin, Stuart, additional, Turek, Wojciech, additional, Anderson, Julie, additional, Bryson, Christine, additional, Carmichael, Jenny, additional, McJannet, Coleen, additional, Stock, Sophie, additional, Allen, Louise, additional, Ambegaonkar, Gautum, additional, Armstrong, Ruth, additional, Arno, Gavin, additional, Bitner-Glindzicz, Maria, additional, Brady, Angie, additional, Canham, Natalie, additional, Chitre, Manali, additional, Clement, Emma, additional, Clowes, Virginia, additional, Deegan, Patrick, additional, Deshpande, Charu, additional, Doffinger, Rainer, additional, Firth, Helen, additional, Flinter, Frances, additional, French, Courtney, additional, Gardham, Alice, additional, Ghali, Neeti, additional, Gissen, Paul, additional, Grozeva, Detelina, additional, Henderson, Robert, additional, Hensiek, Anke, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hurst, Jane, additional, Josifova, Dragana, additional, Krishnakumar, Deepa, additional, Lees, Melissa, additional, MacLaren, Robert, additional, Maw, Anna, additional, Mehta, Sarju, additional, Michaelides, Michel, additional, Moore, Anthony, additional, Murphy, Elaine, additional, Park, Soo-Mi, additional, Parker, Alasdair, additional, Patch, Chris, additional, Paterson, Joan, additional, Rankin, Julia, additional, Reid, Evan, additional, Rosser, Elisabeth, additional, Sandford, Richard, additional, Santra, Saikat, additional, Scott, Richard, additional, Sohal, Aman, additional, Stein, Penelope, additional, Thomas, Ellen, additional, Thompson, Dorothy, additional, Tischkowitz, Marc, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wassmer, Evangeline, additional, Webster, Andrew, additional, Ali, Sonia, additional, Ali, Souad, additional, Boggard, Harm J., additional, Church, Colin, additional, Coghlan, Gerry, additional, Cookson, Victoria, additional, Corris, Paul A., additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Dormand, Natalie, additional, Eyries, Mélanie, additional, Gall, Henning, additional, Ghataorhe, Pavandeep K., additional, Ghio, Stefano, additional, Ghofrani, Ardi, additional, Gibbs, J. Simon R., additional, Girerd, Barbara, additional, Greenhalgh, Alan, additional, Hadinnapola, Charaka, additional, Houweling, Arjan C., additional, Humbert, Marc, additional, in’t Veld, Anna Huis, additional, Kennedy, Fiona, additional, Kiely, David G., additional, Kovacs, Gabor, additional, Lawrie, Allan, additional, Ross, Rob V. Mackenzie, additional, Machado, Rajiv, additional, Masati, Larahmie, additional, Meehan, Sharon, additional, Moledina, Shahin, additional, Montani, David, additional, Othman, Shokri, additional, Peacock, Andrew J., additional, Pepke-Zaba, Joanna, additional, Pollock, Val, additional, Polwarth, Gary, additional, Ranganathan, Lavanya, additional, Rhodes, Christopher J., additional, Rue-Albrecht, Kevin, additional, Schotte, Gwen, additional, Shipley, Debbie, additional, Soubrier, Florent, additional, Southgate, Laura, additional, Scelsi, Laura, additional, Suntharalingam, Jay, additional, Tan, Yvonne, additional, Toshner, Mark, additional, Treacy, Carmen M., additional, Trembath, Richard, additional, Vonk Noordegraaf, Anton, additional, Walker, Sara, additional, Wanjiku, Ivy, additional, Wharton, John, additional, Wilkins, Martin, additional, Wort, Stephen J., additional, Yates, Katherine, additional, Alachkar, Hana, additional, Antrobus, Richard, additional, Arumugakani, Gururaj, additional, Bacchelli, Chiara, additional, Baxendale, Helen, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Booth, Claire, additional, Browning, Michael, additional, Burns, Siobhan, additional, Chandra, Anita, additional, Cooper, Nichola, additional, Davies, Sophie, additional, Devlin, Lisa, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Ghurye, Rohit, additional, Gilmour, Kimberley, additional, Goddard, Sarah, additional, Gordins, Pavel, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hague, Rosie, additional, Harper, Lorraine, additional, Hayman, Grant, additional, Herwadkar, Archana, additional, Huissoon, Aarnoud, additional, Jolles, Stephen, additional, Kelleher, Peter, additional, Kumararatne, Dinakantha, additional, Lear, Sara, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Maimaris, Jesmeen, additional, Manson, Ania, additional, McDermott, Elizabeth, additional, Murng, Sai, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Oksenhendler, Eric, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Richter, Alex, additional, Samarghitean, Crina, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Staples, Emily, additional, Stauss, Hans, additional, Thaventhiran, James, additional, Thomas, Moira, additional, Welch, Steve, additional, Willcocks, Lisa, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Ancliff, Phil, additional, Babbs, Christian, additional, Layton, Mark, additional, Louka, Eleni, additional, McGowan, Simon, additional, Mead, Adam, additional, Roy, Noémi, additional, Chambers, Jenny, additional, Dixon, Peter, additional, Estiu, Cecelia, additional, Hague, Bill, additional, Marschall, Hanns-Ulrich, additional, Simpson, Michael, additional, Chong, Sam, additional, Emmerson, Ingrid, additional, Ginsberg, Lionel, additional, Gosal, David, additional, Hadden, Rob, additional, Horvath, Rita, additional, Mahdi-Rogers, Mohamed, additional, Manzur, Adnan, additional, Marshall, Andrew, additional, Matthews, Emma, additional, McCarthy, Mark, additional, Reilly, Mary, additional, Renton, Tara, additional, Rice, Andrew, additional, Themistocleous, Andreas, additional, Vale, Tom, additional, Van Zuydam, Natalie, additional, Walker, Suellen, additional, Ormondroyd, Liz, additional, Hudson, Gavin, additional, Wei, Wei, additional, Yu Wai Man, Patrick, additional, Whitworth, James, additional, Afzal, Maryam, additional, Colby, Elizabeth, additional, Saleem, Moin, additional, Alavijeh, Omid S., additional, Cook, H. Terry, additional, Johnson, Sally, additional, Levine, Adam P., additional, Wong, Edwin K.S., additional, Tan, Rhea, additional, MacKenzie, Alex, additional, Majewski, Jacek, additional, Brudno, Michael, additional, Bulman, Dennis, additional, and Dyment, David, additional
Published: 2018
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42. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Author: Whitworth, James, primary, Smith, Philip S., additional, Martin, Jose-Ezequiel, additional, West, Hannah, additional, Luchetti, Andrea, additional, Rodger, Faye, additional, Clark, Graeme, additional, Carss, Keren, additional, Stephens, Jonathan, additional, Stirrups, Kathleen, additional, Penkett, Chris, additional, Mapeta, Rutendo, additional, Ashford, Sofie, additional, Megy, Karyn, additional, Shakeel, Hassan, additional, Ahmed, Munaza, additional, Adlard, Julian, additional, Barwell, Julian, additional, Brewer, Carole, additional, Casey, Ruth T., additional, Armstrong, Ruth, additional, Cole, Trevor, additional, Evans, Dafydd Gareth, additional, Fostira, Florentia, additional, Greenhalgh, Lynn, additional, Hanson, Helen, additional, Henderson, Alex, additional, Hoffman, Jonathan, additional, Izatt, Louise, additional, Kumar, Ajith, additional, Kwong, Ava, additional, Lalloo, Fiona, additional, Ong, Kai Ren, additional, Paterson, Joan, additional, Park, Soo-Mi, additional, Chen-Shtoyerman, Rakefet, additional, Searle, Claire, additional, Side, Lucy, additional, Skytte, Anne-Bine, additional, Snape, Katie, additional, Woodward, Emma R., additional, Tischkowitz, Marc D., additional, Maher, Eamonn R., additional, Aitman, Timothy, additional, Alachkar, Hana, additional, Ali, Sonia, additional, Allen, Louise, additional, Allsup, David, additional, Ambegaonkar, Gautum, additional, Anderson, Julie, additional, Antrobus, Richard, additional, Arno, Gavin, additional, Arumugakani, Gururaj, additional, Astle, William, additional, Attwood, Antony, additional, Austin, Steve, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Baxendale, Helen, additional, Bennett, David, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bitner-Glindzicz, Maria, additional, Bleda, Marta, additional, Boggard, Harm, additional, Bolton-Maggs, Paula, additional, Booth, Claire, additional, Bradley, John R., additional, Brady, Angie, additional, Brown, Matthew, additional, Browning, Michael, additional, Bryson, Christine, additional, Burns, Siobhan, additional, Calleja, Paul, additional, Canham, Natalie, additional, Carmichael, Jenny, additional, Caulfield, Mark, additional, Chalmers, Elizabeth, additional, Chandra, Anita, additional, Chinnery, Patrick, additional, Chitre, Manali, additional, Church, Colin, additional, Clement, Emma, additional, Clements-Brod, Naomi, additional, Clowes, Virginia, additional, Coghlan, Gerry, additional, Collins, Peter, additional, Cookson, Victoria, additional, Cooper, Nichola, additional, Corris, Paul, additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Daugherty, Louise, additional, Davies, Sophie, additional, Davis, John, additional, De Vries, Minka, additional, Deegan, Patrick, additional, Deevi, Sri V.V., additional, Deshpande, Charu, additional, Devlin, Lisa, additional, Dewhurst, Eleanor, additional, Dixon, Peter, additional, Doffinger, Rainer, additional, Dormand, Natalie, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Everington, Tamara, additional, Favier, Remi, additional, Firth, Helen, additional, Fletcher, Debra, additional, Flinter, Frances, additional, Frary, Amy, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Furnell, Abigail, additional, Gale, Daniel, additional, Gardham, Alice, additional, Gattens, Michael, additional, Ghali, Neeti, additional, Ghataorhe, Pavandeep K., additional, Ghurye, Rohit, additional, Gibbs, Simon, additional, Gilmour, Kimberley, additional, Gissen, Paul, additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavel, additional, Graf, Stefan, additional, Gräf, Stefan, additional, Greene, Daniel, additional, Greenhalgh, Alan, additional, Greinacher, Andreas, additional, Grigoriadou, Sofia, additional, Grozeva, Detelina, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Halmagyi, Csaba, additional, Hammerton, Tracey, additional, Hart, Daniel, additional, Hayman, Grant, additional, Heemskerk, Johan W.M., additional, Henderson, Robert, additional, Hensiek, Anke, additional, Henskens, Yvonne, additional, Herwadkar, Archana, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hu, Fengyuan, additional, Huis in’t Veld, Anna, additional, Huissoon, Aarnoud, additional, Humbert, Marc, additional, Hurst, Jane, additional, James, Roger, additional, Jolles, Stephen, additional, Josifova, Dragana, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelleher, Peter, additional, Kelly, Anne M., additional, Kennedy, Fiona, additional, Kiely, David, additional, Kingston, Nathalie, additional, Koziell, Ania, additional, Krishnakumar, Deepa, additional, Kuijpers, Taco W., additional, Kuijpers, Taco, additional, Kumararatne, Dinakantha, additional, Kurian, Manju, additional, Laffan, Michael A., additional, Lambert, Michele P., additional, Allen, Hana Lango, additional, Lango-Allen, Hana, additional, Lawrie, Allan, additional, Lear, Sara, additional, Lees, Melissa, additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Louka, Eleni, additional, Machado, Rajiv, additional, Ross, Rob Mackenzie, additional, MacLaren, Robert, additional, Maher, Eamonn, additional, Maimaris, Jesmeen, additional, Mangles, Sarah, additional, Manson, Ania, additional, Markus, Hugh S., additional, Martin, Jennifer, additional, Masati, Larahmie, additional, Mathias, Mary, additional, Matser, Vera, additional, Maw, Anna, additional, McDermott, Elizabeth, additional, McJannet, Coleen, additional, Meacham, Stuart, additional, Meehan, Sharon, additional, Mehta, Sarju, additional, Michaelides, Michel, additional, Millar, Carolyn M., additional, Moledina, Shahin, additional, Moore, Anthony, additional, Morrell, Nicholas, additional, Mumford, Andrew, additional, Murng, Sai, additional, Murphy, Elaine, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, Oksenhendler, Eric, additional, Othman, Shokri, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Parker, Alasdair, additional, Pasi, John, additional, Patch, Chris, additional, Payne, Jeanette, additional, Peacock, Andrew, additional, Peerlinck, Kathelijne, additional, Penkett, Christopher J., additional, Pepke-Zaba, Joanna, additional, Perry, David, additional, Perry, David J., additional, Pollock, Val, additional, Polwarth, Gary, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Rankin, Stuart, additional, Rankin, Julia, additional, Raymond, F. Lucy, additional, Rayner-Matthews, Paula, additional, Rehnstrom, Karola, additional, Reid, Evan, additional, Rhodes, Christopher J., additional, Richards, Michael, additional, Richardson, Sylvia, additional, Richter, Alex, additional, Roberts, Irene, additional, Rondina, Matthew, additional, Rosser, Elisabeth, additional, Roughley, Catherine, additional, Roy, Noémi, additional, Rue-Albrecht, Kevin, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sandford, Richard, additional, Santra, Saikat, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Schotte, Gwen, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scott, Richard, additional, Scully, Marie, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Shamardina, Olga, additional, Shipley, Debbie, additional, Simeoni, Ilenia, additional, Sivapalaratnam, Suthesh, additional, Smith, Kenneth G.C., additional, Sohal, Aman, additional, Southgate, Laura, additional, Staines, Simon, additional, Staples, Emily, additional, Stark, Hannah, additional, Stauss, Hans, additional, Stein, Penelope, additional, Stock, Sophie, additional, Suntharalingam, Jay, additional, Talks, Kate, additional, Tan, Yvonne, additional, Thachil, Jecko, additional, Thaventhiran, James, additional, Thomas, Ellen, additional, Thomas, Moira, additional, Thompson, Dorothy, additional, Thrasher, Adrian, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Toshner, Mark, additional, Treacy, Carmen, additional, Trembath, Richard, additional, Tuna, Salih, additional, Turek, Wojciech, additional, Turro, Ernest, additional, Van Geet, Chris, additional, Veltman, Marijke, additional, Vogt, Julie, additional, von Ziegenweldt, Julie, additional, Vonk Noordegraaf, Anton, additional, Wakeling, Emma, additional, Wanjiku, Ivy, additional, Warner, Timothy Q., additional, Wassmer, Evangeline, additional, Watkins, Hugh, additional, Watt, Christopher, additional, Webster, ndrew, additional, Welch, Steve, additional, Westbury, Sarah, additional, Wharton, John, additional, Whitehorn, Deborah, additional, Wilkins, Martin, additional, Willcocks, Lisa, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Woods, Geoff, additional, Wort, John, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Young, Tim, additional, and Yu, Ping, additional
Published: 2018
Full Text: View/download PDF

43. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Author: Arno, Gavin, primary, Carss, Keren J., additional, Hull, Sarah, additional, Zihni, Ceniz, additional, Robson, Anthony G., additional, Fiorentino, Alessia, additional, Hardcastle, Alison J., additional, Holder, Graham E., additional, Cheetham, Michael E., additional, Plagnol, Vincent, additional, Moore, Anthony T., additional, Raymond, F. Lucy, additional, Matter, Karl, additional, Balda, Maria S., additional, Webster, Andrew R., additional, Black, Graeme, additional, Hall, Georgina, additional, Ingram, Stuart, additional, Gillespie, Rachel, additional, Manson, Forbes, additional, Sergouniotis, Panagiotis, additional, Inglehearn, Chris, additional, Toomes, Carmel, additional, Ali, Manir, additional, McKibbin, Martin, additional, Poulter, James, additional, Khan, Kamron, additional, Lord, Emma, additional, Nemeth, Andrea, additional, Downes, Susan, additional, Halford, Stephanie, additional, Yu, Jing, additional, Lise, Stefano, additional, Arno, Gavin, additional, Ponitkos, Nikos, additional, Michaelides, Michel, additional, van Heyningen, Veronica, additional, Aitman, Timothy, additional, Alachkar, Hana, additional, Ali, Sonia, additional, Allen, Louise, additional, Allsup, David, additional, Ambegaonkar, Gautum, additional, Anderson, Julie, additional, Antrobus, Richard, additional, Armstrong, Ruth, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William, additional, Attwood, Antony, additional, Austin, Steve, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Baxendale, Helen, additional, Bennett, David, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bitner-Glindzicz, Maria, additional, Bleda, Marta, additional, Boggard, Harm, additional, Bolton-Maggs, Paula, additional, Booth, Claire, additional, Bradley, John R., additional, Brady, Angie, additional, Brown, Matthew, additional, Browning, Michael, additional, Bryson, Christine, additional, Burns, Siobhan, additional, Calleja, Paul, additional, Canham, Natalie, additional, Carmichael, Jenny, additional, Carss, Keren, additional, Caulfield, Mark, additional, Chalmers, Elizabeth, additional, Chandra, Anita, additional, Chinnery, Patrick, additional, Chitre, Manali, additional, Church, Colin, additional, Clement, Emma, additional, Clements-Brod, Naomi, additional, Clowes, Virginia, additional, Coghlan, Gerry, additional, Collins, Peter, additional, Cooper, Nichola, additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Daugherty, Louise, additional, Davies, Sophie, additional, Davis, John, additional, De Vries, Minka, additional, Deegan, Patrick, additional, Deevi, Sri V.V., additional, Deshpande, Charu, additional, Devlin, Lisa, additional, Dewhurst, Eleanor, additional, Doffinger, Rainer, additional, Dormand, Natalie, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Everington, Tamara, additional, Favier, Remi, additional, Firth, Helen, additional, Fletcher, Debra, additional, Flinter, Frances, additional, Fox, James C., additional, Frary, Amy, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Furnell, Abigail, additional, Gale, Daniel, additional, Gardham, Alice, additional, Gattens, Michael, additional, Ghali, Neeti, additional, Ghataorhe, Pavandeep K., additional, Ghurye, Rohit, additional, Gibbs, Simon, additional, Gilmour, Kimberley, additional, Gissen, Paul, additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavel, additional, Gräf, Stefan, additional, Greene, Daniel, additional, Greenhalgh, Alan, additional, Greinacher, Andreas, additional, Grigoriadou, Sofia, additional, Grozeva, Detelina, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Halmagyi, Csaba, additional, Hammerton, Tracey, additional, Hart, Daniel, additional, Hayman, Grant, additional, Heemskerk, Johan W.M., additional, Henderson, Robert, additional, Hensiek, Anke, additional, Henskens, Yvonne, additional, Herwadkar, Archana, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hu, Fengyuan, additional, Huissoon, Aarnoud, additional, Humbert, Marc, additional, Hurst, Jane, additional, James, Roger, additional, Jolles, Stephen, additional, Josifova, Dragana, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelleher, Peter, additional, Kelly, Anne M., additional, Kennedy, Fiona, additional, Kiely, David, additional, Kingston, Nathalie, additional, Koziell, Ania, additional, Krishnakumar, Deepa, additional, Kuijpers, Taco W., additional, Kumararatne, Dinakantha, additional, Kurian, Manju, additional, Laffan, Michael A., additional, Lambert, Michele P., additional, Allen, Hana Lango, additional, Lawrie, Allan, additional, Lear, Sara, additional, Lees, Melissa, additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Machado, Rajiv, additional, Mackenzie, Rob, additional, MacLaren, Robert, additional, Maher, Eamonn, additional, Maimaris, Jesmeen, additional, Mangles, Sarah, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Markus, Hugh S., additional, Martin, Jennifer, additional, Masati, Larahmie, additional, Mathias, Mary, additional, Matser, Vera, additional, Maw, Anna, additional, McDermott, Elizabeth, additional, McJannet, Coleen, additional, Meacham, Stuart, additional, Meehan, Sharon, additional, Megy, Karyn, additional, Mehta, Sarju, additional, Millar, Carolyn M., additional, Moledina, Shahin, additional, Moore, Anthony, additional, Morrell, Nicholas, additional, Mumford, Andrew, additional, Murng, Sai, additional, Murphy, Elaine, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, Oksenhendler, Eric, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Park, Soo-Mi, additional, Parker, Alasdair, additional, Pasi, John, additional, Patch, Chris, additional, Paterson, Joan, additional, Payne, Jeanette, additional, Peacock, Andrew, additional, Peerlinck, Kathelijne, additional, Penkett, Christopher J., additional, Pepke-Zaba, Joanna, additional, Perry, David J., additional, Pollock, Val, additional, Polwarth, Gary, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Rankin, Stuart, additional, Rankin, Julia, additional, Rehnstrom, Karola, additional, Reid, Evan, additional, Rhodes, Christopher J., additional, Richards, Michael, additional, Richardson, Sylvia, additional, Richter, Alex, additional, Roberts, Irene, additional, Rondina, Matthew, additional, Rosser, Elisabeth, additional, Roughley, Catherine, additional, Rue-Albrecht, Kevin, additional, Samarghitean, Crina, additional, Sanchis-Juan, Alba, additional, Sandford, Richard, additional, Santra, Saikat, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scott, Richard, additional, Scully, Marie, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Shamardina, Olga, additional, Shipley, Debbie, additional, Simeoni, Ilenia, additional, Sivapalaratnam, Suthesh, additional, Smith, Kenneth, additional, Sohal, Aman, additional, Southgate, Laura, additional, Staines, Simon, additional, Staples, Emily, additional, Stauss, Hans, additional, Stein, Penelope, additional, Stephens, Jonathan, additional, Stirrups, Kathleen, additional, Stock, Sophie, additional, Suntharalingam, Jay, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Yvonne, additional, Thachil, Jecko, additional, Thaventhiran, James, additional, Thomas, Ellen, additional, Thomas, Moira, additional, Thompson, Dorothy, additional, Thrasher, Adrian, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Toshner, Mark, additional, Treacy, Carmen, additional, Trembath, Richard, additional, Tuna, Salih, additional, Turek, Wojciech, additional, Turro, Ernest, additional, Van Geet, Chris, additional, Veltman, Marijke, additional, Vogt, Julie, additional, von Ziegenweldt, Julie, additional, Vonk Noordegraaf, Anton, additional, Wakeling, Emma, additional, Wanjiku, Ivy, additional, Warner, Timothy Q., additional, Wassmer, Evangeline, additional, Watkins, Hugh, additional, Webster, Andrew, additional, Welch, Steve, additional, Westbury, Sarah, additional, Wharton, John, additional, Whitehorn, Deborah, additional, Wilkins, Martin, additional, Willcocks, Lisa, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Wort, John, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Young, Tim, additional, and Yu, Ping, additional
Published: 2017
Full Text: View/download PDF

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

Author: Carss, Keren J., primary, Arno, Gavin, additional, Erwood, Marie, additional, Stephens, Jonathan, additional, Sanchis-Juan, Alba, additional, Hull, Sarah, additional, Megy, Karyn, additional, Grozeva, Detelina, additional, Dewhurst, Eleanor, additional, Malka, Samantha, additional, Plagnol, Vincent, additional, Penkett, Christopher, additional, Stirrups, Kathleen, additional, Rizzo, Roberta, additional, Wright, Genevieve, additional, Josifova, Dragana, additional, Bitner-Glindzicz, Maria, additional, Scott, Richard H., additional, Clement, Emma, additional, Allen, Louise, additional, Armstrong, Ruth, additional, Brady, Angela F., additional, Carmichael, Jenny, additional, Chitre, Manali, additional, Henderson, Robert H.H., additional, Hurst, Jane, additional, MacLaren, Robert E., additional, Murphy, Elaine, additional, Paterson, Joan, additional, Rosser, Elisabeth, additional, Thompson, Dorothy A., additional, Wakeling, Emma, additional, Ouwehand, Willem H., additional, Michaelides, Michel, additional, Moore, Anthony T., additional, Webster, Andrew R., additional, Raymond, F. Lucy, additional, Aitman, Timothy, additional, Alachkar, Hana, additional, Ali, Sonia, additional, Allsup, David, additional, Ambegaonkar, Gautum, additional, Anderson, Julie, additional, Antrobus, Richard, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William, additional, Attwood, Antony, additional, Austin, Steve, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Baxendale, Helen, additional, Bennett, David, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bleda, Marta, additional, Boggard, Harm, additional, Bolton-Maggs, Paula, additional, Booth, Claire, additional, Bradley, John R., additional, Brady, Angie, additional, Brown, Matthew, additional, Browning, Michael, additional, Bryson, Christine, additional, Burns, Siobhan, additional, Calleja, Paul, additional, Canham, Natalie, additional, Carss, Keren, additional, Caulfield, Mark, additional, Chalmers, Elizabeth, additional, Chandra, Anita, additional, Chinnery, Patrick, additional, Church, Colin, additional, Clements-Brod, Naomi, additional, Clowes, Virginia, additional, Coghlan, Gerry, additional, Collins, Peter, additional, Cooper, Nichola, additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Daugherty, Louise, additional, Davies, Sophie, additional, Davis, John, additional, De Vries, Minka, additional, Deegan, Patrick, additional, Deevi, Sri V.V., additional, Deshpande, Charu, additional, Devlin, Lisa, additional, Doffinger, Rainer, additional, Dormand, Natalie, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Erber, Wendy N., additional, Everington, Tamara, additional, Favier, Remi, additional, Firth, Helen, additional, Fletcher, Debra, additional, Flinter, Frances, additional, Fox, James C., additional, Frary, Amy, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Furnell, Abigail, additional, Gale, Daniel, additional, Gardham, Alice, additional, Gattens, Michael, additional, Ghali, Neeti, additional, Ghataorhe, Pavandeep K., additional, Ghurye, Rohit, additional, Gibbs, Simon, additional, Gilmour, Kimberley, additional, Gissen, Paul, additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavel, additional, Gräf, Stefan, additional, Greene, Daniel, additional, Greenhalgh, Alan, additional, Greinacher, Andreas, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Halmagyi, Csaba, additional, Hammerton, Tracey, additional, Hart, Daniel, additional, Hayman, Grant, additional, Heemskerk, Johan W.M., additional, Henderson, Robert, additional, Hensiek, Anke, additional, Henskens, Yvonne, additional, Herwadkar, Archana, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hu, Fengyuan, additional, Huissoon, Aarnoud, additional, Humbert, Marc, additional, James, Roger, additional, Jolles, Stephen, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelleher, Peter, additional, Kelly, Anne M., additional, Kennedy, Fiona, additional, Kiely, David, additional, Kingston, Nathalie, additional, Koziell, Ania, additional, Krishnakumar, Deepa, additional, Kuijpers, Taco W., additional, Kumararatne, Dinakantha, additional, Kurian, Manju, additional, Laffan, Michael A., additional, Lambert, Michele P., additional, Allen, Hana Lango, additional, Lawrie, Allan, additional, Lear, Sara, additional, Lees, Melissa, additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Machado, Rajiv, additional, Mackenzie, Rob, additional, MacLaren, Robert, additional, Maher, Eamonn, additional, Maimaris, Jesmeen, additional, Mangles, Sarah, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Markus, Hugh S., additional, Martin, Jennifer, additional, Masati, Larahmie, additional, Mathias, Mary, additional, Matser, Vera, additional, Maw, Anna, additional, McDermott, Elizabeth, additional, McJannet, Coleen, additional, Meacham, Stuart, additional, Meehan, Sharon, additional, Mehta, Sarju, additional, Millar, Carolyn M., additional, Moledina, Shahin, additional, Moore, Anthony, additional, Morrell, Nicholas, additional, Mumford, Andrew, additional, Murng, Sai, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, Oksenhendler, Eric, additional, Papadia, Sofia, additional, Park, Soo-Mi, additional, Parker, Alasdair, additional, Pasi, John, additional, Patch, Chris, additional, Payne, Jeanette, additional, Peacock, Andrew, additional, Peerlinck, Kathelijne, additional, Penkett, Christopher J., additional, Pepke-Zaba, Joanna, additional, Perry, David J., additional, Pollock, Val, additional, Polwarth, Gary, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Rankin, Stuart, additional, Rankin, Julia, additional, Raymond, F. Lucy, additional, Rehnstrom, Karola, additional, Reid, Evan, additional, Rhodes, Christopher J., additional, Richards, Michael, additional, Richardson, Sylvia, additional, Richter, Alex, additional, Roberts, Irene, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Rue-Albrecht, Kevin, additional, Samarghitean, Crina, additional, Sandford, Richard, additional, Santra, Saikat, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scott, Richard, additional, Scully, Marie, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Shamardina, Olga, additional, Shipley, Debbie, additional, Simeoni, Ilenia, additional, Sivapalaratnam, Suthesh, additional, Smith, Kenneth, additional, Sohal, Aman, additional, Southgate, Laura, additional, Staines, Simon, additional, Staples, Emily, additional, Stauss, Hans, additional, Stein, Penelope, additional, Stock, Sophie, additional, Suntharalingam, Jay, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Yvonne, additional, Thachil, Jecko, additional, Thaventhiran, James, additional, Thomas, Ellen, additional, Thomas, Moira, additional, Thompson, Dorothy, additional, Thrasher, Adrian, additional, Tischkowitz, Marc, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Toshner, Mark, additional, Treacy, Carmen, additional, Trembath, Richard, additional, Tuna, Salih, additional, Turek, Wojciech, additional, Turro, Ernest, additional, Van Geet, Chris, additional, Veltman, Marijke, additional, Vogt, Julie, additional, von Ziegenweldt, Julie, additional, Vonk Noordegraaf, Anton, additional, Wanjiku, Ivy, additional, Warner, Timothy Q., additional, Wassmer, Evangeline, additional, Watkins, Hugh, additional, Webster, Andrew, additional, Welch, Steve, additional, Westbury, Sarah, additional, Wharton, John, additional, Whitehorn, Deborah, additional, Wilkins, Martin, additional, Willcocks, Lisa, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Wort, John, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Young, Tim, additional, and Yu, Ping, additional
Published: 2017
Full Text: View/download PDF

45. Markets eye captives, await first formations

Author: Souter, Gavin, Goddard, Sarah, Kielmas, Maria, MacDermott, Matthew, and Prince, Michael
Subjects: Hong Kong -- Insurance, Panama -- Insurance, Montenegro -- Insurance, Malta -- Insurance, Lloyd's of London Ltd. -- Services, Insurance industry -- Services, Captive insurance companies -- International aspects -- Services, Business, Insurance, Insurance industry, International aspects, Services
Abstract: Panama Panama last week incorporated its first captive under its 1996 insurance law. Portland Re S.A. is owned by a Latin American industrial conglomerate and is managed by Corporate Risk [...]
Published: 1998

46. Contingent commissions under renewed scrutiny

Author: Goddard, Sarah
Subjects: Insurance, Insurance industry -- Compensation and benefits, Insurance brokers -- Practice, Business, Insurance, Insurance industry, Practice, Compensation and benefits
Abstract: LONDON - The heated international debate over brokers' contingent commissions grew more intense in the London market last week. Recent U.K. media reports have implied that large brokers, unbeknownst to [...]
Published: 1998

47. Broker earnings strong following acquisition mania

Author: Martin, Sara and Goddard, Sarah
Subjects: Aon Group Inc. -- Finance, Financial analysis -- Economic aspects, Insurance industry -- Economic aspects -- Finance, Insurance brokers -- Finance -- Economic aspects, Acquisitions and mergers -- Economic aspects, Business, Insurance, Company financing, Insurance industry, Finance, Economic aspects
Abstract: Brokers that have taken part in the consolidation frenzy over the past year are reaping the benefits, while acquisition rumors continue to swirl around the industry. Four out of five [...]
Published: 1997

48. London reinsurers quiet about market's rates and overseas investors

Author: Goddard, Sarah
Subjects: London, England -- Insurance, Reinsurance -- England, Insurance industry -- Economic aspects, Business, Insurance
Abstract: London, England reinsurers refuse to discuss the current state of the market as rates plummet to four-year lows and as overseas investors continue to be attracted by a relatively hard market and easy access to London business. London's reinsurance market is currently witnessing softer rates as premiums on renewal in 1995 fell between 10% and 20%. Although some reinsurers opt to hold on despite the soft pricing, others seek premium income either by dropping rates or extending coverage. However, some market observers remain hopeful that the drop in premium rates will soon slow down.
Published: 1996

49. Challenges create stronger London market

Author: Goddard, Sarah and Unsworth, Edwin
Subjects: Reinsurance -- Management, Insurance industry -- Management, Business, Insurance, Company business management, Insurance industry, Management
Abstract: Companies now better managed, capitalized If there is any one truth about the London reinsurance market, it is that it never stands still. And when the winds of change or [...]
Published: 1996

50. JIB Group P.L.C

Author: Goddard, Sarah
Subjects: JIB Group PLC -- Management, Insurance industry, Insurance brokers -- Management, Business, Insurance, Company business management, Insurance industry, Management
Abstract: Jardine House, 6 Crutched Friars, London EC3N 2HT; 44-171-528 4444; fax: 44-171-528-4185 1995 1994 Premium volume $2.88 billion $3.15 billion Gross revenues $359,784,000 $367,680,000 Brokerage: Retail 68% 64% Wholesale 13% [...]
Published: 1996

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