A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

by Simeoni, Ilenia, Stephens, Jonathan C., Hu, Fengyuan, Deevi, Sri V.V., Megy, Karyn, Bariana, Tadbir K., Lentaigne, Claire, Schulman, Sol, Sivapalaratnam, Suthesh, Vries, Minka J.A., Westbury, Sarah K., Greene, Daniel, Papadia, Sofia, Alessi, Marie-Christine, Attwood, Antony P., Ballmaier, Matthias, Baynam, Gareth, Bermejo, Emilse, Bertoli, Marta, Bray, Paul F., Bury, Loredana, Cattaneo, Marco, Collins, Peter, Daugherty, Louise C., Favier, Rémi, French, Deborah L., Furie, Bruce, Gattens, Michael, Germeshausen, Manuela, Ghevaert, Cedric, Goodeve, Anne C., Guerrero, Jose A., Hampshire, Daniel J., Hart, Daniel P., Heemskerk, Johan W.M., Henskens, Yvonne M.C., Hill, Marian, Hogg, Nancy, Jolley, Jennifer D., Kahr, Walter H., Kelly, Anne M., Kerr, Ron, Kostadima, Myrto, Kunishima, Shinji, Lambert, Michele P., Liesner, Ri, López, José A., Mapeta, Rutendo P., Mathias, Mary, Millar, Carolyn M., Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T., Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J., Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew T., Smethurst, Peter A., Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A., Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel B., Penkett, Christopher J., Laffan, Michael A., Mumford, Andrew D., Rendon, Augusto, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Turro, Ernest
Published in Blood

Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wi...

by Reilly, Muredach P, Dr, Li, Mingyao, PhD, He, Jing, PhD, Ferguson, Jane F, PhD, Stylianou, Ioannis M, PhD, Mehta, Nehal N, MD, Burnett, Mary Susan, PhD, Devaney, Joseph M, PhD, Knouff, Christopher W, MD, Thompson, John R, Prof, Horne, Benjamin D, PhD, Stewart, Alexandre FR, PhD, Assimes, Themistocles L, MD, Wild, Philipp S, MD, Allayee, Hooman, PhD, Nitschke, Patrick Linsel, MD, Patel, Riyaz S, MD, Martinelli, Nicola, MD, Girelli, Domenico, Prof, Quyyumi, Arshed A, Prof, Anderson, Jeffrey L, Prof, Erdmann, Jeanette, Prof, Hall, Alistair S, MD, Schunkert, Heribert, Prof, Quertermous, Thomas, Prof, Blankenberg, Stefan, Prof, Hazen, Stanley L, Prof, Roberts, Robert, Prof, Kathiresan, Sekar, MD, Samani, Nilesh J, Prof, Epstein, Stephen E, Prof, Rader, Daniel J, Prof
Published in The Lancet (British edition)

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

by Burton, Paul R, Clayton, David G, Cardon, Lon R, Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P, McCarthy, Mark I, Ouwehand, Willem H, Samani, Nilesh J, Todd, John A, Donnelly, Peter, Barrett, Jeffrey C
Published in Nature

Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes

by Weedon, Michael N, Lindgren, Cecilia M, Timpson, Nicholas J, Freathy, Rachel M, Morris, Andrew P, Walker, Mark, Doney, Alex S.F, Clayton, David G, Craddock, Nick, Deloukas, Panos, Ouwehand, Willem H, Todd, John A, Evans, David, Leung, Hin-Tak, Attwood, Antony P, Boorman, James P, Everson, Ursula, Knight, Alexandra S, Stevens, Helen E, Walters, Graham R, Walker, Neil M, Winzer, Thilo, Ring, Susan M, Strachan, David P, Pembrey, Marcus, Fraser, Christine, Jones, Ian R, Kirov, George, Williamson, Richard, Young, Allan H, Ferrier, I. Nicol, Iles, Mark M, Maqbool, Azhar, Hall, Alistair S, Braund, Peter S, Stevens, Suzanne, Thompson, John R, Bredin, Francesca, Lees, Charles W, Forbes, Alastair, Lewis, Cathryn M, Prescott, Natalie J, Todhunter, Catherine E, Ahmad, Tariq, Cummings, Fraser R, Jewell, Derek P, Webster, John, Connell, John, Dominiczak, Anna, Gungadoo, Johannie, Lee, Kate L, Munroe, Patricia B, Onipinla, Abiodun, Caulfield, Mark, Farrall, Martin, Potter, Catherine, Silman, Alan J, Worthington, Jane, Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Farrar, Claire, Brown, Matthew A, Simmonds, Matthew J, Gough, Stephen C.L, Ban, Maria, Goris, An, Compston, Alastair, Hunt, Sarah E, Inouye, Michael, McGinnis, Ralph, Widden, Claire, Su, Zhan, Teo, Yik Ying, Ouwehand, Nilesh J, Samani, Michael R, Ardern-Jones, A, Brice, G, Castle, B, Donaldson, A, Eeles, R, Goodman, S, Gray, J, Greenhalgh, L, Hodgson, S.V, Izatt, L, Jeffers, L, Locke, I, Longmuir, M, Mackay, J, Magee, A, Miedzybrodzka, Z, Paterson, J, Porteous, M, Rowe, S, Shanley, S, Saggar, A, Side, L, Steel, M, Thomas, M
Published in Science (American Association for the Advancement of Science)

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

by Nejentsev, Sergey, Bailey, Rebecca, Hardy, Matthew, Cooper, Jason D, Howson, Joanna M. M, Walker, Neil M, Maier, Lisa M, Ribas, Gloria, King, Erna, Szeszko, Jeffrey, Field, Sarah F, Reynolds, Pamela, Smyth, Deborah, Todd, John A, Hulme, John, Clayton, David G, Masters, Jennifer, Stevens, Helen E, Campbell, R. Duncan
Published in Nature

A HaemAtlas: characterizing gene expression in differentiated human blood cells

by Watkins, Nicholas A., Gusnanto, Arief, de Bono, Bernard, De, Subhajyoti, Miranda-Saavedra, Diego, Hardie, Debbie L., Angenent, Will G.J., Attwood, Antony P., Ellis, Peter D., Erber, Wendy, Foad, Nicola S., Garner, Stephen F., Isacke, Clare M., Jolley, Jennifer, Koch, Kerstin, Macaulay, Iain C., Morley, Sarah L., Rendon, Augusto, Rice, Kate M., Taylor, Niall, Thijssen-Timmer, Daphne C., Tijssen, Marloes R., van der Schoot, C. Ellen, Wernisch, Lorenz, Winzer, Thilo, Dudbridge, Frank, Buckley, Christopher D., Langford, Cordelia F., Teichmann, Sarah, Göttgens, Berthold, Ouwehand, Willem H., on behalf of the Bloodomics Consortium
Published in Blood

Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics

by Berndt, Sonja I., Wheeler, Eleanor, Croteau-Chonka, Damien C., Day, Felix R., Esko, Tõnu, Jackson, Anne U., Vedantam, Sailaja, Wood, Andrew R., Workalemahu, Tsegaselassie, Hu, Yi-Juan, Thorleifsson, Gudmar, den Heijer, Martin, Kanoni, Stavroula, Lecoeur, Cecile, Li, Guo, Paternoster, Lavinia, Rose, Lynda M., Strawbridge, Rona J., Teumer, Alexander, Van Vliet-Ostaptchouk, Jana V., Waite, Lindsay L., Absher, Devin, Attwood, Antony P., Campbell, Harry, Connell, John M., de Vegt, Femmie, Edkins, Sarah, Evans, David M., Farrall, Martin, Grallert, Harald, Grönberg, Henrik, Gudnason, Vilmundur, Hall, Per, Hayward, Caroline, Heath, Andrew C., Hebebrand, Johannes, Homuth, Georg, Hu, Frank B., Jansson, John-Olov, Jula, Antti, Kathiresan, Sekar, Kuulasmaa, Kari, Kuusisto, Johanna, Launer, Lenore J., Lorentzon, Mattias, Madden, Pamela A., Magnusson, Patrik K., März, Winfried, Montgomery, Grant W., Mühleisen, Thomas W., Munroe, Patricia B., Narisu, Narisu, Peden, John F., Pedersen, Nancy, Pramstaller, Peter P., Pütter, Carolin, Raitakari, Olli, Sambrook, Jennifer G., Sanna, Serena, Stančáková, Alena, Stark, Klaus, Stephens, Jonathan C., Swift, Amy J., Theodoraki, Eirini V., Thorand, Barbara, van Meurs, Joyce B.J., Viikari, Jorma, Virtamo, Jarmo, Waeber, Gérard, Wolffenbuttel, Bruce H.R., Boerwinkle, Eric, Cupples, L. Adrienne, Eriksson, Johan G., Gieger, Christian, Hengstenberg, Christian, Hinney, Anke, Jöckel, Karl-Heinz, Kiemeney, Lambertus A., Martin, Nicholas G., Nieminen, Markku S., Njølstad, Inger, Penninx, Brenda, Power, Chris, Province, Michael A., Qi, Lu, Samani, Nilesh J., Sørensen, Thorkild I.A., Vollenweider, Peter, Borecki, Ingrid B., Deloukas, Panos, Groop, Leif C., Karpe, Fredrik, Moffatt, Miriam, O’Connell, Jeffrey R., Pawitan, Yudi, Schlessinger, David, Di Blasio, Anna Maria, Scherag, André, Ingelsson, Erik, Lin, Dan-Yu
Published in American journal of human genetics

Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility

by Barton, Anne, Thomson, Wendy, Ke, Xiayi, Eyre, Steve, Hinks, Anne, Bowes, John, Gibbons, Laura, Plant, Darren, Wilson, Anthony G., Marinou, Ioanna, Morgan, Ann, Emery, Paul, Steer, Sophia, Hocking, Lynne, Reid, David M., Wordsworth, Paul, Harrison, Pille, Worthington, Jane
Published in Human molecular genetics

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

by BAN, Maria, GORIS, An, DUBOIS, Bénédicte, HARBO, Hanne F, CELIUS, Elisabeth G, SPURKLAND, Anne, STRANGE, Richard, HAWKINS, Clive, ROBERTSON, Neil P, DUDBRIDGE, Frank, WASON, James, DE JAGER, Philip L, LORENTZEN, Aslaug R, HAFLER, David, RIOUX, John D, IVINSON, Adrian J, MCCAULEY, Jacob L, PERICAK-VANCE, Margaret, OKSENBERG, Jorge R, HAUSER, Stephen L, SEXTON, David, HAINES, Jonathan, SAWCER, Stephen, BAKER, Amie, MIHALOVA, Tania, INGRAM, Gillian, BOOTH, David R, HEARD, Robert N, STEWART, Graeme J, BOGAERT, Elke
Published in European journal of human genetics : EJHG

Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23

by Orozco, Gisela, Hinks, Anne, Eyre, Steve, Ke, Xiayi, Gibbons, Laura J., Bowes, John, Flynn, Edward, Martin, Paul, Wilson, Anthony G., Bax, Deborah E., Morgan, Ann W., Emery, Paul, Steer, Sophia, Hocking, Lynne, Reid, David M., Wordsworth, Paul, Harrison, Pille, Thomson, Wendy, Barton, Anne, Worthington, Jane
Published in Human molecular genetics

Association of Novel Genetic Loci With Circulating Fibrinogen Levels: A Genome-Wide Association Study in 6 Population-Based Cohorts

by Dehghan, Abbas, Yang, Qiong, Peters, Annette, Basu, Saonli, Bis, Joshua C, Rudnicka, Alicja R, Kavousi, Maryam, Chen, Ming-Huei, Baumert, Jens, Lowe, Gordon D.O, McKnight, Barbara, Tang, Weihong, de Maat, Moniek, Larson, Martin G, Eyhermendy, Susana, McArdle, Wendy L, Lumley, Thomas, Pankow, James S, Hofman, Albert, Massaro, Joseph M, Rivadeneira, Fernando, Kolz, Melanie, Taylor, Kent D, van Duijn, Cornelia M, Kathiresan, Sekar, Illig, Thomas, Aulchenko, Yurii S, Volcik, Kelly A, Johnson, Andrew D, Uitterlinden, Andre G, Tofler, Geoffrey H, Gieger, Christian, Wellcome Trust Case Control Consortium, Psaty, Bruce M, Couper, David J, Boerwinkle, Eric, Koenig, Wolfgang, O'Donnell, Christopher J, Witteman, Jacqueline C, Strachan, David P, Smith, Nicholas L, Folsom, Aaron R
Published in Genetics (Austin)

Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction

by Lucas, Gavin, Lluís-Ganella, Carla, Subirana, Isaac, Musameh, Muntaser D, Gonzalez, Juan Ramon, Nelson, Christopher P, Sentí, Mariano, Schwartz, Stephen M, Siscovick, David, O'Donnell, Christopher J, Melander, Olle, Salomaa, Veikko, Purcell, Shaun, Altshuler, David, Samani, Nilesh J, Kathiresan, Sekar, Elosua, Roberto
Published in PloS one

Outcome of Everolimus-Based Therapy in Hormone-Receptor-Positive Metastatic Breast Cancer Patients After Progression on Palbociclib

by Dhakal, Ajay, Antony Thomas, Roby, Levine, Ellis G, Brufsky, Adam, Takabe, Kazuaki, Hanna, Matthew G, Attwood, Kristopher, Miller, Austin, Khoury, Thaer, Early, Amy P, Soniwala, Saif, O’Connor, Tracy, Opyrchal, Mateusz
Published in Breast cancer : basic and clinical research

Transcriptional diversity during lineage commitment of human blood progenitors

by Chen, Lu, Kostadima, Myrto, Martens, Joost H. A., Canu, Giovanni, Garcia, Sara P., Turro, Ernest, Downes, Kate, Macaulay, Iain C., Bielczyk-Maczynska, Ewa, Coe, Sophia, Farrow, Samantha, Poudel, Pawan, Burden, Frances, Jansen, Sjoert B. G., Astle, William J., Attwood, Antony, Bariana, Tadbir, de Bono, Bernard, Breschi, Alessandra, Chambers, John C., Consortium, BRIDGE, Choudry, Fizzah A., Clarke, Laura, Coupland, Paul, van der Ent, Martijn, Erber, Wendy N., Jansen, Joop H., Favier, Rémi, Fenech, Matthew E., Foad, Nicola, Freson, Kathleen, van Geet, Chris, Gomez, Keith, Guigo, Roderic, Hampshire, Daniel, Kelly, Anne M., Kerstens, Hindrik H. D., Kooner, Jaspal S., Laffan, Michael, Lentaigne, Claire, Labalette, Charlotte, Martin, Tiphaine, Meacham, Stuart, Mumford, Andrew, Nürnberg, Sylvia, Palumbo, Emilio, van der Reijden, Bert A., Richardson, David, Sammut, Stephen J., Slodkowicz, Greg, Tamuri, Asif U., Vasquez, Louella, Voss, Katrin, Watt, Stephen, Westbury, Sarah, Flicek, Paul, Loos, Remco, Goldman, Nick, Bertone, Paul, Read, Randy J., Richardson, Sylvia, Cvejic, Ana, Soranzo, Nicole, Ouwehand, Willem H., Stunnenberg, Hendrik G., Frontini, Mattia, Rendon, Augusto
Published in Science (American Association for the Advancement of Science)

Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission

by Aggarwal, Dinesh, Warne, Ben, Jahun, Aminu S, Hamilton, William L, Fieldman, Thomas, du Plessis, Louis, Hill, Verity, Blane, Beth, Watkins, Emmeline, Wright, Elizabeth, Hall, Grant, Ludden, Catherine, Myers, Richard, Hosmillo, Myra, Chaudhry, Yasmin, Pinckert, Malte L, Georgana, Iliana, Izuagbe, Rhys, Leek, Danielle, Nsonwu, Olisaeloka, Hughes, Gareth J, Packer, Simon, Page, Andrew J, Metaxaki, Marina, Fuller, Stewart, Weale, Gillian, Holgate, Jon, Brown, Christopher A, Howes, Rob, McFarlane, Duncan, Dougan, Gordon, Pybus, Oliver G, Angelis, Daniela De, Maxwell, Patrick H, Peacock, Sharon J, Weekes, Michael P, Illingworth, Chris, Harrison, Ewan M, Matheson, Nicholas J, Goodfellow, Ian G
Published in Nature communications

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

by Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy
Published in Journal of allergy and clinical immunology

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

by Westbury, Sarah K, Turro, Ernest, Greene, Daniel, Lentaigne, Claire, Kelly, Anne M, Bariana, Tadbir K, Simeoni, Ilenia, Pillois, Xavier, Attwood, Antony, Austin, Steve, Jansen, Sjoert Bg, Bakchoul, Tamam, Crisp-Hihn, Abi, Erber, Wendy N, Favier, Rémi, Foad, Nicola, Gattens, Michael, Jolley, Jennifer D, Liesner, Ri, Meacham, Stuart, Millar, Carolyn M, Nurden, Alan T, Peerlinck, Kathelijne, Perry, David J, Poudel, Pawan, Schulman, Sol, Schulze, Harald, Stephens, Jonathan C, Furie, Bruce, Robinson, Peter N, van Geet, Chris, Rendon, Augusto, Gomez, Keith, Laffan, Michael A, Lambert, Michele P, Nurden, Paquita, Ouwehand, Willem H, Richardson, Sylvia, Mumford, Andrew D, Freson, Kathleen
Published in Genome medicine

COVID-19 due to the B.1.617.2 (Delta) variant compared to B.1.1.7 (Alpha) variant of SARS-CoV-2: a prospective observational cohort study

by Kläser, Kerstin, Molteni, Erika, Graham, Mark, Canas, Liane S, Österdahl, Marc F, Antonelli, Michela, Chen, Liyuan, Deng, Jie, Murray, Benjamin, Kerfoot, Eric, Wolf, Jonathan, May, Anna, Fox, Ben, Capdevila, Joan, Modat, Marc, Hammers, Alexander, Spector, Tim D, Steves, Claire J, Sudre, Carole H, Ourselin, Sebastien, Duncan, Emma L
Published in Scientific reports

Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission

by Aggarwal, Dinesh, Page, Andrew J, Schaefer, Ulf, Savva, George M, Myers, Richard, Volz, Erik, Ellaby, Nicholas, Platt, Steven, Groves, Natalie, Gallagher, Eileen, Tumelty, Niamh M, Le Viet, Thanh, Hughes, Gareth J, Chen, Cong, Turner, Charlie, Logan, Sophie, Harrison, Abbie, Peacock, Sharon J, Chand, Meera, Harrison, Ewan M
Published in Nature communications

Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning

by Nickbakhsh, Sema, Hughes, Joseph, Christofidis, Nicolaos, Griffiths, Emily, Shaaban, Sharif, Enright, Jessica, Smollett, Katherine, Nomikou, Kyriaki, Palmalux, Natasha, Tong, Lily, Carmichael, Stephen, Sreenu, Vattipally B, Orton, Richard, Goldstein, Emily J, Tomb, Rachael M, Templeton, Kate, Gunson, Rory N, da Silva Filipe, Ana, Milosevic, Catriona, Thomson, Emma, Robertson, David L, Holden, Matthew T G, Illingworth, Christopher J R, Smith-Palmer, Alison
Published in Scientific reports