TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

por Harley, Margaret E., Murina, Olga, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Gökhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne, Sabbioneda, Simone, Elcioglu, Nursel H., Altmüller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nürnberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S., Jackson, Andrew P.
Publicado 2015

PGBD5 promotes site-specific oncogenic mutations in human tumors

por Henssen, Anton G., Koche, Richard, Zhuang, Jiali, Jiang, Eileen, Reed, Casie, Eisenberg, Amy, Still, Eric, MacArthur, Ian C., Rodríguez-Fos, Elias, Gonzalez, Santiago, Puiggròs, Montserrat, Blackford, Andrew N., Mason, Christopher E., de Stanchina, Elisa, Gönen, Mithat, Emde, Anne-Katrin, Shah, Minita, Arora, Kanika, Reeves, Catherine, Socci, Nicholas D., Perlman, Elizabeth, Antonescu, Cristina R., Roberts, Charles W. M., Steen, Hanno, Mullen, Elizabeth, Jackson, Stephen P., Torrents, David, Weng, Zhiping, Armstrong, Scott A., Kentsis, Alex
Publicado 2017

Genome Wide Linkage Analysis of 972 Bipolar Pedigrees Using Single Nucleotide Polymorphisms

por Badner, Judith A, Koller, Daniel, Foroud, Tatiana, Edenberg, Howard, Nurnberger, John I, Zandi, Peter P, Willour, Virginia L., McMahon, Francis J, Potash, James B, Hamshere, Marian, Grozeva, Detelina, Green, Elaine, Kirov, George, Jones, Ian, Jones, Lisa, Craddock, Nicholas, Morris, Derek, Segurado, Ricardo, Gill, Mike, Sadovnick, Dessa, Remick, Ronald, Keck, Paul, Kelsoe, John, Ayub, Muhammad, MacLean, Alan, Blackwood, Douglas, Liu, Chun-Yu, Gershon, Elliot S, McMahon, William, Lyon, Gholson, Robinson, Reid, Ross, Jessica, Byerley, William
Publicado 2011

Resistance to checkpoint blockade therapy through inactivation of antigen presentation

por Sade-Feldman, Moshe, Jiao, Yunxin J., Chen, Jonathan H., Rooney, Michael S., Barzily-Rokni, Michal, Eliane, Jean-Pierre, Bjorgaard, Stacey L., Hammond, Marc R., Vitzthum, Hans, Blackmon, Shauna M., Frederick, Dennie T., Hazar-Rethinam, Mehlika, Nadres, Brandon A., Van Seventer, Emily E., Shukla, Sachet A., Yizhak, Keren, Ray, John P., Rosebrock, Daniel, Livitz, Dimitri, Adalsteinsson, Viktor, Getz, Gad, Duncan, Lyn M., Li, Bo, Corcoran, Ryan B., Lawrence, Donald P., Stemmer-Rachamimov, Anat, Boland, Genevieve M., Landau, Dan A., Flaherty, Keith T., Sullivan, Ryan J., Hacohen, Nir
Publicado 2017

Operational Definitions Related to Pediatric Ventilator Liberation

por Abu-Sultaneh, Samer, Iyer, Narayan Prabhu, Fernández, Analía, Gaies, Michael, González-Dambrauskas, Sebastián, Hotz, Justin Christian, Kneyber, Martin C.J., López-Fernández, Yolanda M., Rotta, Alexandre T., Werho, David K., Baranwal, Arun Kumar, Blackwood, Bronagh, Craven, Hannah J., Curley, Martha A.Q., Essouri, Sandrine, Fioretto, Jose Roberto, Hartmann, Silvia M.M., Jouvet, Philippe, Korang, Steven Kwasi, Rafferty, Gerrard F., Ramnarayan, Padmanabhan, Rose, Louise, Tume, Lyvonne N., Whipple, Elizabeth C., Wong, Judith Ju Ming, Emeriaud, Guillaume, Mastropietro, Christopher W., Napolitano, Natalie, Newth, Christopher J.L., Khemani, Robinder G.
Publicado 2023

Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder

por Frank, René A. W., McRae, Allan F., Pocklington, Andrew J., van de Lagemaat, Louie N., Navarro, Pau, Croning, Mike D. R., Komiyama, Noboru H., Bradley, Sophie J., Challiss, R. A. John, Armstrong, J. Douglas, Finn, Robert D., Malloy, Mary P., MacLean, Alan W., Harris, Sarah E., Starr, John M., Bhaskar, Sanjeev S., Howard, Eleanor K., Hunt, Sarah E., Coffey, Alison J., Ranganath, Venkatesh, Deloukas, Panos, Rogers, Jane, Muir, Walter J., Deary, Ian J., Blackwood, Douglas H., Visscher, Peter M., Grant, Seth G. N.
Publicado 2011

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group

por Kossoff, Eric H., Zupec‐Kania, Beth A., Auvin, Stéphane, Ballaban‐Gil, Karen R., Christina Bergqvist, A.G., Blackford, Robyn, Buchhalter, Jeffrey R., Caraballo, Roberto H., Cross, J. Helen, Dahlin, Maria G., Donner, Elizabeth J., Guzel, Orkide, Jehle, Rana S., Klepper, Joerg, Kang, Hoon‐Chul, Lambrechts, Danielle A., Liu, Y.M. Christiana, Nathan, Janak K., Nordli, Douglas R., Pfeifer, Heidi H., Rho, Jong M., Scheffer, Ingrid E., Sharma, Suvasini, Stafstrom, Carl E., Thiele, Elizabeth A., Turner, Zahava, Vaccarezza, Maria M., van der Louw, Elles J.T.M., Veggiotti, Pierangelo, Wheless, James W., Wirrell, Elaine C.
Publicado 2018

DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

por Malavasi, Elise L. V., Economides, Kyriakos D., Grünewald, Ellen, Makedonopoulou, Paraskevi, Gautier, Philippe, Mackie, Shaun, Murphy, Laura C., Murdoch, Hannah, Crummie, Darragh, Ogawa, Fumiaki, McCartney, Daniel L., O’Sullivan, Shane T., Burr, Karen, Torrance, Helen S., Phillips, Jonathan, Bonneau, Marion, Anderson, Susan M., Perry, Paul, Pearson, Matthew, Constantinides, Costas, Davidson-Smith, Hazel, Kabiri, Mostafa, Duff, Barbara, Johnstone, Mandy, Polites, H. Greg, Lawrie, Stephen M., Blackwood, Douglas H., Semple, Colin A., Evans, Kathryn L., Didier, Michel, Chandran, Siddharthan, McIntosh, Andrew M., Price, David J., Houslay, Miles D., Porteous, David J., Millar, J. Kirsty
Publicado 2018

Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned

por Wray, N R, Pergadia, M L, Blackwood, D H R, Penninx, B W J H, Gordon, S D, Nyholt, D R, Ripke, S, MacIntyre, D J, McGhee, K A, Maclean, A W, Smit, J H, Hottenga, J J, Willemsen, G, Middeldorp, C M, de Geus, E J C, Lewis, C M, McGuffin, P, Hickie, I B, van den Oord, E J C G, Liu, J Z, Macgregor, S, McEvoy, B P, Byrne, E M, Medland, S E, Statham, D J, Henders, A K, Heath, A C, Montgomery, G W, Martin, N G, Boomsma, D I, Madden, P A F, Sullivan, P F
Publicado 2012

More research is required to understand factors influencing antibiotic prescribing in complex conditions like suspected ventilator-associated pneumonia

por Hellyer, Thomas P., McAuley, Daniel F., Walsh, Timothy S., Anderson, Niall, Conway Morris, Andrew, Singh, Suveer, Dark, Paul, Roy, Alistair I., Perkins, Gavin D., McMullan, Ronan, Emerson, Lydia M., Blackwood, Bronagh, Wright, Stephen E., Kefala, Kallirroi, O’Kane, Cecilia M., Baudouin, Simon V., Paterson, Ross L., Rostron, Anthony J., Agus, Ashley, Bannard-Smith, Jonathan, Robin, Nicole M., Welters, Ingeborg D., Bassford, Christopher, Yates, Bryan, Spencer, Craig, Laha, Shondipon K., Hulme, Jonathan, Bonner, Stephen, Linnett, Vanessa, Sonksen, Julian, Van Den Broeck, Tina, Boschman, Gert, Keenan, D. W. James, Scott, Jonathan, Allen, A. Joy, Phair, Glenn, Parker, Jennie, Bowett, Susan A., Simpson, A. John
Publicado 2020

Biomarker-guided antibiotic stewardship in suspected ventilator-associated pneumonia (VAPrapid2): a randomised controlled trial and process evaluation

por Hellyer, Thomas P, McAuley, Daniel F, Walsh, Timothy S, Anderson, Niall, Conway Morris, Andrew, Singh, Suveer, Dark, Paul, Roy, Alistair I, Perkins, Gavin D, McMullan, Ronan, Emerson, Lydia M, Blackwood, Bronagh, Wright, Stephen E, Kefala, Kallirroi, O'Kane, Cecilia M, Baudouin, Simon V, Paterson, Ross L, Rostron, Anthony J, Agus, Ashley, Bannard-Smith, Jonathan, Robin, Nicole M, Welters, Ingeborg D, Bassford, Christopher, Yates, Bryan, Spencer, Craig, Laha, Shondipon K, Hulme, Jonathan, Bonner, Stephen, Linnett, Vanessa, Sonksen, Julian, Van Den Broeck, Tina, Boschman, Gert, Keenan, DW James, Scott, Jonathan, Allen, A Joy, Phair, Glenn, Parker, Jennie, Bowett, Susan A, Simpson, A John
Publicado 2020

Safety and immunogenicity of INO-4800 DNA vaccine against SARS-CoV-2: A preliminary report of an open-label, Phase 1 clinical trial

por Tebas, Pablo, Yang, ShuPing, Boyer, Jean D., Reuschel, Emma L., Patel, Ami, Christensen-Quick, Aaron, Andrade, Viviane M., Morrow, Matthew P., Kraynyak, Kimberly, Agnes, Joseph, Purwar, Mansi, Sylvester, Albert, Pawlicki, Jan, Gillespie, Elisabeth, Maricic, Igor, Zaidi, Faraz I., Kim, Kevin Y., Dia, Yaya, Frase, Drew, Pezzoli, Patrick, Schultheis, Katherine, Smith, Trevor R.F., Ramos, Stephanie J., McMullan, Trevor, Buttigieg, Karen, Carroll, Miles W., Ervin, John, Diehl, Malissa C., Blackwood, Elliott, Mammen, Mammen P., Lee, Jessica, Dallas, Michael J., Brown, Ami Shah, Shea, Jacqueline E., Kim, J.Joseph, Weiner, David B., Broderick, Kate E., Humeau, Laurent M.
Publicado 2020

Combined tumor and immune signals from genomes or transcriptomes predict outcomes of checkpoint inhibition in melanoma

por Freeman, Samuel S., Sade-Feldman, Moshe, Kim, Jaegil, Stewart, Chip, Gonye, Anna L.K., Ravi, Arvind, Arniella, Monica B., Gushterova, Irena, LaSalle, Thomas J., Blaum, Emily M., Yizhak, Keren, Frederick, Dennie T., Sharova, Tatyana, Leshchiner, Ignaty, Elagina, Liudmila, Spiro, Oliver G., Livitz, Dimitri, Rosebrock, Daniel, Aguet, François, Carrot-Zhang, Jian, Ha, Gavin, Lin, Ziao, Chen, Jonathan H., Barzily-Rokni, Michal, Hammond, Marc R., Vitzthum von Eckstaedt, Hans C., Blackmon, Shauna M., Jiao, Yunxin J., Gabriel, Stacey, Lawrence, Donald P., Duncan, Lyn M., Stemmer-Rachamimov, Anat O., Wargo, Jennifer A., Flaherty, Keith T., Sullivan, Ryan J., Boland, Genevieve M., Meyerson, Matthew, Getz, Gad, Hacohen, Nir
Publicado 2022

571. Safety and Immunogenicity of INO-4800, a COVID-19 DNA Vaccine as a Primary Series and Booster

por Tebas, Pablo, Agnes, Joseph, Giffear, Mary, Kraynyak, Kimberly A, Blackwood, Elliott, Amante, Dinah, Reuschel, Emma, Liu, Neiman, Purwar, Mansi, Christensen-Quick, Aaron, Andrade, Viviane M, Carter, Julie, Garufi, Gabriella, Diehl, Malissa, Sylvester, Albert, Morrow, Matthew P, Pezzoli, Patrick P, Kulkarni, Abhijeet J, Zaidi, Faraz I, Frase, Drew, Liaw, Kevin, Patel, Ami, Buttigieg, Karen R, Ervin, John E, Pawlicki, Jan, Gillespie, Elisabeth, Maricic, Igor, Schultheis, Katherine, Badie, Hedieh, Herring, Timothy A, Simon, Keiko O, Smith, Trevor R F, Ramos, Stephanie, Spitz, Robert, Lee, Jessica, Dallas, Michael, Brown, Ami Shah, Shea, Jacqueline E, Kim, J Joseph, Weiner, David, Broderick, Kate, McMullan, Trevor, Boyer, Jean, Humeau, Laurent, Mammen Jr., Mammen P
Publicado 2021

Genomewide Association for Major Depressive Disorder: A possible role for the presynaptic protein Piccolo

por Sullivan, Patrick F., de Geus, Eco J.C., Willemsen, Gonneke, James, Michael R., Smit, Jan H., Zandbelt, Tim, Arolt, Volker, Baune, Bernhard T., Blackwood, Douglas, Cichon, Sven, Coventry, William L., Domschke, Katharina, Farmer, Anne, Fava, Maurizio, Gordon, Scott D., He, Qianchuan, Heath, Andrew, Heutink, Peter, Holsboer, Florian, Hoogendijk, Witte J., Hottenga, Jouke Jan, Hu, Yijuan, Kohli, Martin, Lin, Danyu, Lucae, Suzanne, MacIntyre, Donald J., Maier, Wolfgang, McGhee, Kevin A., McGuffin, Peter, Montgomery, Grant, Muir, Walter J., Nolen, Willem, Nöthen, Markus M., Perlis, Roy H., Pirlo, Katrina, Posthuma, Danielle, Rietschel, Marcella, Rizzu, Patizia, Schosser, Alexandra, Smit, August B., Smoller, Jordan W., Tzeng, Jung-Ying, van Dyck, Richard, Verhage, Matthijs, Zitman, Frans G., Martin, Nicholas G., Wray, Naomi R., Boomsma, Dorret I., Penninx, Brenda W.J.H.
Publicado 2008

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

por Morris, Derek W., Pearson, Richard D., Cormican, Paul, Kenny, Elaine M., O'Dushlaine, Colm T., Perreault, Louis-Philippe Lemieux, Giannoulatou, Eleni, Tropea, Daniela, Maher, Brion S., Wormley, Brandon, Kelleher, Eric, Fahey, Ciara, Molinos, Ines, Bellini, Stefania, Pirinen, Matti, Strange, Amy, Freeman, Colin, Thiselton, Dawn L., Elves, Rachel L., Regan, Regina, Ennis, Sean, Dinan, Timothy G., McDonald, Colm, Murphy, Kieran C., O'Callaghan, Eadbhard, Waddington, John L., Walsh, Dermot, O'Donovan, Michael, Grozeva, Detelina, Craddock, Nick, Stone, Jennifer, Scolnick, Ed, Purcell, Shaun, Sklar, Pamela, Coe, Bradley, Eichler, Evan E., Ophoff, Roel, Buizer, Jacobine, Szatkiewicz, Jin, Hultman, Christina, Sullivan, Patrick, Gurling, Hugh, Mcquillin, Andrew, St Clair, David, Rees, Elliott, Kirov, George, Walters, James, Blackwood, Douglas, Johnstone, Mandy, Donohoe, Gary, O'Neill, Francis A., Kendler, Kenneth S., Gill, Michael, Riley, Brien P., Spencer, Chris C. A., Corvin, Aiden
Publicado 2014

Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression

por Glanville, Kylie P., Coleman, Jonathan R.I., Hanscombe, Ken B., Euesden, Jack, Choi, Shing Wan, Purves, Kirstin L., Breen, Gerome, Air, Tracy M., Andlauer, Till F.M., Baune, Bernhard T., Binder, Elisabeth B., Blackwood, Douglas H.R., Boomsma, Dorret I., Buttenschøn, Henriette N., Colodro-Conde, Lucía, Dannlowski, Udo, Direk, Nese, Dunn, Erin C., Forstner, Andreas J., de Geus, Eco J.C., Grabe, Hans J., Hamilton, Steven P., Jones, Ian, Jones, Lisa A., Knowles, James A., Kutalik, Zoltán, Levinson, Douglas F., Lewis, Glyn, Lind, Penelope A., Lucae, Susanne, Magnusson, Patrik K., McGuffin, Peter, McIntosh, Andrew M., Milaneschi, Yuri, Mors, Ole, Mostafavi, Sara, Müller-Myhsok, Bertram, Pedersen, Nancy L., Penninx, Brenda W.J.H., Potash, James B., Preisig, Martin, Ripke, Stephan, Shi, Jianxin, Shyn, Stanley I., Smoller, Jordan W., Streit, Fabian, Sullivan, Patrick F., Tiemeier, Henning, Uher, Rudolf, Van der Auwera, Sandra, Weissman, Myrna M., O'Reilly, Paul F., Lewis, Cathryn M.
Publicado 2020

Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study

por Gleichgerrcht, Ezequiel, Munsell, Brent C., Alhusaini, Saud, Alvim, Marina K.M., Bargalló, Núria, Bender, Benjamin, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Blackmon, Karen, Caligiuri, Maria Eugenia, Cendes, Fernando, Concha, Luis, Desmond, Patricia M., Devinsky, Orrin, Doherty, Colin P., Domin, Martin, Duncan, John S., Focke, Niels K., Gambardella, Antonio, Gong, Bo, Guerrini, Renzo, Hatton, Sean N., Kälviäinen, Reetta, Keller, Simon S., Kochunov, Peter, Kotikalapudi, Raviteja, Kreilkamp, Barbara A.K., Labate, Angelo, Langner, Soenke, Larivière, Sara, Lenge, Matteo, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Meletti, Stefano, O'Brien, Terence J., Pardoe, Heath R., Pariente, Jose C., Xian Rao, Jun, Richardson, Mark P., Rodríguez-Cruces, Raúl, Rüber, Theodor, Sinclair, Ben, Soltanian-Zadeh, Hamid, Stein, Dan J., Striano, Pasquale, Taylor, Peter N., Thomas, Rhys H., Elisabetta Vaudano, Anna, Vivash, Lucy, von Podewills, Felix, Vos, Sjoerd B., Weber, Bernd, Yao, Yi, Lin Yasuda, Clarissa, Zhang, Junsong, Thompson, Paul M., Sisodiya, Sanjay M., McDonald, Carrie R., Bonilha, Leonardo
Publicado 2021

ESICM guidelines on acute respiratory distress syndrome: definition, phenotyping and respiratory support strategies

por Grasselli, Giacomo, Calfee, Carolyn S., Camporota, Luigi, Poole, Daniele, Amato, Marcelo B. P., Antonelli, Massimo, Arabi, Yaseen M., Baroncelli, Francesca, Beitler, Jeremy R., Bellani, Giacomo, Bellingan, Geoff, Blackwood, Bronagh, Bos, Lieuwe D. J., Brochard, Laurent, Brodie, Daniel, Burns, Karen E. A., Combes, Alain, D’Arrigo, Sonia, De Backer, Daniel, Demoule, Alexandre, Einav, Sharon, Fan, Eddy, Ferguson, Niall D., Frat, Jean-Pierre, Gattinoni, Luciano, Guérin, Claude, Herridge, Margaret S., Hodgson, Carol, Hough, Catherine L., Jaber, Samir, Juffermans, Nicole P., Karagiannidis, Christian, Kesecioglu, Jozef, Kwizera, Arthur, Laffey, John G., Mancebo, Jordi, Matthay, Michael A., McAuley, Daniel F., Mercat, Alain, Meyer, Nuala J., Moss, Marc, Munshi, Laveena, Myatra, Sheila N., Ng Gong, Michelle, Papazian, Laurent, Patel, Bhakti K., Pellegrini, Mariangela, Perner, Anders, Pesenti, Antonio, Piquilloud, Lise, Qiu, Haibo, Ranieri, Marco V., Riviello, Elisabeth, Slutsky, Arthur S., Stapleton, Renee D., Summers, Charlotte, Thompson, Taylor B., Valente Barbas, Carmen S., Villar, Jesús, Ware, Lorraine B., Weiss, Björn, Zampieri, Fernando G., Azoulay, Elie, Cecconi, Maurizio
Publicado 2023