Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

por Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F., Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W., Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S., Goodship, Judith, Hobson, Emma, Jones, Wendy D., Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J., Turnpenny, Peter, Whitworth, James, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Lo, Cecilia W., FitzPatrick, David R., Hurles, Matthew E.
Publicado 2015

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

por Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.
Publicado 2022

Coast-to-Coast Spread of SARS-CoV-2 during the Early Epidemic in the United States

por Fauver, Joseph R., Petrone, Mary E., Hodcroft, Emma B., Shioda, Kayoko, Ehrlich, Hanna Y., Watts, Alexander G., Vogels, Chantal B.F., Brito, Anderson F., Alpert, Tara, Muyombwe, Anthony, Razeq, Jafar, Downing, Randy, Cheemarla, Nagarjuna R., Wyllie, Anne L., Kalinich, Chaney C., Ott, Isabel M., Quick, Joshua, Loman, Nicholas J., Neugebauer, Karla M., Greninger, Alexander L., Jerome, Keith R., Roychoudhury, Pavitra, Xie, Hong, Shrestha, Lasata, Huang, Meei-Li, Pitzer, Virginia E., Iwasaki, Akiko, Omer, Saad B., Khan, Kamran, Bogoch, Isaac I., Martinello, Richard A., Foxman, Ellen F., Landry, Marie L., Neher, Richard A., Ko, Albert I., Grubaugh, Nathan D.
Publicado 2020

The Lancet Commission on lessons for the future from the COVID-19 pandemic

por Sachs, Jeffrey D, Karim, Salim S Abdool, Aknin, Lara, Allen, Joseph, Brosbøl, Kirsten, Colombo, Francesca, Barron, Gabriela Cuevas, Espinosa, María Fernanda, Gaspar, Vitor, Gaviria, Alejandro, Haines, Andy, Hotez, Peter J, Koundouri, Phoebe, Bascuñán, Felipe Larraín, Lee, Jong-Koo, Pate, Muhammad Ali, Ramos, Gabriela, Reddy, K Srinath, Serageldin, Ismail, Thwaites, John, Vike-Freiberga, Vaira, Wang, Chen, Were, Miriam Khamadi, Xue, Lan, Bahadur, Chandrika, Bottazzi, Maria Elena, Bullen, Chris, Laryea-Adjei, George, Ben Amor, Yanis, Karadag, Ozge, Lafortune, Guillaume, Torres, Emma, Barredo, Lauren, Bartels, Juliana G E, Joshi, Neena, Hellard, Margaret, Huynh, Uyen Kim, Khandelwal, Shweta, Lazarus, Jeffrey V, Michie, Susan
Publicado 2022

Germline hypomorphic CARD11 mutations in severe atopic disease

por Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Publicado 2017

Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease

por Klarin, Derek, Busenkell, Emma, Judy, Renae, Lynch, Julie, Levin, Michael, Haessler, Jeffery, Aragam, Krishna, Chaffin, Mark, Haas, Mary, Lindström, Sara, Assimes, Themistocles L., Huang, Jie, Lee, Kyung Min, Shao, Qing, Huffman, Jennifer E., Kabrhel, Christopher, Huang, Yunfeng, Sun, Yan V., Vujkovic, Marijana, Saleheen, Danish, Miller, Donald R., Reaven, Peter, DuVall, Scott, Boden, William E., Pyarajan, Saiju, Reiner, Alex P., Trégouët, David-Alexandre, Henke, Peter, Kooperberg, Charles, Gaziano, J. Michael, Concato, John, Rader, Daniel J., Cho, Kelly, Chang, Kyong-Mi, Wilson, Peter W.F., Smith, Nicholas L., O’Donnell, Christopher J., Tsao, Philip S., Kathiresan, Sekar, Obi, Andrea, Damrauer, Scott M., Natarajan, Pradeep
Publicado 2019

Coast-to-coast spread of SARS-CoV-2 in the United States revealed by genomic epidemiology

por Fauver, Joseph R., Petrone, Mary E., Hodcroft, Emma B., Shioda, Kayoko, Ehrlich, Hanna Y., Watts, Alexander G., Vogels, Chantal B.F., Brito, Anderson F., Alpert, Tara, Muyombwe, Anthony, Razeq, Jafar, Downing, Randy, Cheemarla, Nagarjuna R., Wyllie, Anne L., Kalinich, Chaney C., Ott, Isabel, Quick, Joshua, Loman, Nicholas J., Neugebauer, Karla M., Greninger, Alexander L., Jerome, Keith R., Roychoudhury, Pavitra, Xie, Hong, Shrestha, Lasata, Huang, Meei-Li, Pitzer, Virginia E., Iwasaki, Akiko, Omer, Saad B., Khan, Kamran, Bogoch, Isaac I., Martinello, Richard A., Foxman, Ellen F., Landry, Marie L., Neher, Richard A., Ko, Albert I., Grubaugh, Nathan D.
Publicado 2020

Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy

por Kerns, Sarah L, Fachal, Laura, Dorling, Leila, Barnett, Gillian C, Baran, Andrea, Peterson, Derick R, Hollenberg, Michelle, Hao, Ke, Narzo, Antonio Di, Ahsen, Mehmet Eren, Pandey, Gaurav, Bentzen, Søren M, Janelsins, Michelle, Elliott, Rebecca M, Pharoah, Paul D P, Burnet, Neil G, Dearnaley, David P, Gulliford, Sarah L, Hall, Emma, Sydes, Matthew R, Aguado-Barrera, Miguel E, Gómez-Caamaño, Antonio, Carballo, Ana M, Peleteiro, Paula, Lobato-Busto, Ramón, Stock, Richard, Stone, Nelson N, Ostrer, Harry, Usmani, Nawaid, Singhal, Sandeep, Tsuji, Hiroshi, Imai, Takashi, Saito, Shiro, Eeles, Rosalind, DeRuyck, Kim, Parliament, Matthew, Dunning, Alison M, Vega, Ana, Rosenstein, Barry S, West, Catharine M L
Publicado 2019

Applying Mendelian randomization to appraise causality in relationships between nutrition and cancer

por Wade, Kaitlin H., Yarmolinsky, James, Giovannucci, Edward, Lewis, Sarah J., Millwood, Iona Y., Munafò, Marcus R., Meddens, Fleur, Burrows, Kimberley, Bell, Joshua A., Davies, Neil M., Mariosa, Daniela, Kanerva, Noora, Vincent, Emma E., Smith-Byrne, Karl, Guida, Florence, Gunter, Marc J., Sanderson, Eleanor, Dudbridge, Frank, Burgess, Stephen, Cornelis, Marilyn C., Richardson, Tom G., Borges, Maria Carolina, Bowden, Jack, Hemani, Gibran, Cho, Yoonsu, Spiller, Wes, Richmond, Rebecca C., Carter, Alice R., Langdon, Ryan, Lawlor, Deborah A., Walters, Robin G., Vimaleswaran, Karani Santhanakrishnan, Anderson, Annie, Sandu, Meda R., Tilling, Kate, Davey Smith, George, Martin, Richard M., Relton, Caroline L.
Publicado 2022

Safety and immunogenicity of heterologous versus homologous prime-boost schedules with an adenoviral vectored and mRNA COVID-19 vaccine (Com-COV): a single-blind, randomised, non-i...

por Liu, Xinxue, Shaw, Robert H, Stuart, Arabella S V, Greenland, Melanie, Aley, Parvinder K, Andrews, Nick J, Cameron, J Claire, Charlton, Sue, Clutterbuck, Elizabeth A, Collins, Andrea M, Dinesh, Tanya, England, Anna, Faust, Saul N, Ferreira, Daniela M, Finn, Adam, Green, Christopher A, Hallis, Bassam, Heath, Paul T, Hill, Helen, Lambe, Teresa, Lazarus, Rajeka, Libri, Vincenzo, Long, Fei, Mujadidi, Yama F, Plested, Emma L, Provstgaard-Morys, Samuel, Ramasamy, Maheshi N, Ramsay, Mary, Read, Robert C, Robinson, Hannah, Singh, Nisha, Turner, David P J, Turner, Paul J, Walker, Laura L, White, Rachel, Nguyen-Van-Tam, Jonathan S, Snape, Matthew D
Publicado 2021

Acquired resistance to oxaliplatin is not directly associated with increased resistance to DNA damage in SK-N-AS(r)OXALI(4000), a newly established oxaliplatin-resistant sub-line o...

por Saintas, Emily, Abrahams, Liam, Ahmad, Gulshan T., Ajakaiye, Anu-Oluwa M., AlHumaidi, Abdulaziz S. H. A. M., Ashmore-Harris, Candice, Clark, Iain, Dura, Usha K., Fixmer, Carine N., Ike-Morris, Chinedu, Mato Prado, Mireia, Mccullough, Danielle, Mishra, Shishir, Schöler, Katia M. U., Timur, Husne, Williamson, Maxwell D. C., Alatsatianos, Markella, Bahsoun, Basma, Blackburn, Edith, Hogwood, Catherine E., Lithgow, Pamela E., Rowe, Michelle, Yiangou, Lyto, Rothweiler, Florian, Cinatl, Jindrich, Zehner, Richard, Baines, Anthony J., Garrett, Michelle D., Gourlay, Campbell W., Griffin, Darren K., Gullick, William J., Hargreaves, Emma, Howard, Mark J., Lloyd, Daniel R., Rossman, Jeremy S., Smales, C. Mark, Tsaousis, Anastasios D., von der Haar, Tobias, Wass, Mark N., Michaelis, Martin
Publicado 2017

Persistence of immune response in heterologous COVID vaccination schedules in the Com-COV2 study – A single-blind, randomised trial incorporating mRNA, viral-vector and protein-adj...

por Shaw, Robert H., Greenland, Melanie, Stuart, Arabella S.V., Aley, Parvinder K., Andrews, Nick J., Cameron, J. Claire, Charlton, Sue, Clutterbuck, Elizabeth A., Collins, Andrea M., Darton, Tom, Dinesh, Tanya, Duncan, Christopher J.A., Faust, Saul N., Ferreira, Daniela M., Finn, Adam, Goodman, Anna L., Green, Christopher A., Hallis, Bassam, Heath, Paul T., Hill, Helen, Lambe, Teresa, Libri, Vincenzo, Lillie, Patrick J., Morey, Ella, Mujadidi, Yama F., Payne, Ruth, Plested, Emma L., Provstgaard-Morys, Samuel, Ramasamy, Maheshi N., Ramsay, Mary, Read, Robert C., Robinson, Hannah, Screaton, Gavin R., Singh, Nisha, Turner, David P.J., Turner, Paul J., White, Rachel, Nguyen-Van-Tam, Jonathan S., Liu, Xinxue, Snape, Matthew D.
Publicado 2023

European Association of Urology Guidelines Office Rapid Reaction Group: An Organisation-wide Collaborative Effort to Adapt the European Association of Urology Guidelines Recommenda...

por Ribal, Maria J., Cornford, Philip, Briganti, Alberto, Knoll, Thomas, Gravas, Stavros, Babjuk, Marek, Harding, Christopher, Breda, Alberto, Bex, Axel, Rassweiler, Jens J., Gözen, Ali S., Pini, Giovannalberto, Liatsikos, Evangelos, Giannarini, Gianluca, Mottrie, Alex, Subramaniam, Ramnath, Sofikitis, Nikolaos, Rocco, Bernardo M.C., Xie, Li-Ping, Witjes, J. Alfred, Mottet, Nicolas, Ljungberg, Börje, Rouprêt, Morgan, Laguna, Maria P., Salonia, Andrea, Bonkat, Gernot, Blok, Bertil F.M., Türk, Christian, Radmayr, Christian, Kitrey, Noam D., Engeler, Daniel S., Lumen, Nicolaas, Hakenberg, Oliver W., Watkin, Nick, Hamid, Rizwan, Olsburgh, Jonathon, Darraugh, Julie, Shepherd, Robert, Smith, Emma-Jane, Chapple, Christopher R., Stenzl, Arnulf, Van Poppel, Hendrik, Wirth, Manfred, Sønksen, Jens, N’Dow, James
Publicado 2020

Democratic research: Setting up a research commons for a qualitative, comparative, longitudinal interview study during the COVID-19 pandemic

por Zimmermann, Bettina M., Wagenaar, Hendrik, Kieslich, Katharina, Prainsack, Barbara, Meyers, Gert, Buyx, Alena, El-Sayed, Seliem, Fiske, Amelia, Galasso, Ilaria, Geiger, Susi, Hangel, Nora, Horn, Ruth, Johnson, Stephanie, Kuiper, Janneke M.L., Lucivero, Federica, McLennan, Stuart, Paul, Katharina T., Pot, Mirjam, Radhuber, Isabella, Samuel, Gabrielle, Sharon, Tamar, Siffels, Lotje, Van Hoyweghen, Ine, Awad, Sula, Bourgeron, Théo, Eichinger, Johanna, Gaille, Marie, Haddad, Christian, Hayes, Sarah, Hoffman, Andrew, Jasser, Marie, Kenens, Joke, Lanzing, Marjolein, Libert, Sébastien, Lievevrouw, Elisa, Marelli, Luca, Ongolly, Fernandos, Phillips, Amicia, Pinel, Clémence, Riesinger, Katharina, Roberts, Stephen, Saxinger, Gertrude, Schlogl, Lukas, Schönweitz, Franziska, Sierawska, Anna, Spahl, Wanda, Stendahl, Emma, Vanstreels, Siemen, Vidolov, Simeon, Weiss, Elias
Publicado 2022

Effect of priming interval on reactogenicity, peak immunological response, and waning after homologous and heterologous COVID-19 vaccine schedules: exploratory analyses of Com-COV,...

por Shaw, Robert H, Liu, Xinxue, Stuart, Arabella S V, Greenland, Melanie, Aley, Parvinder K, Andrews, Nick J, Cameron, J Claire, Charlton, Sue, Clutterbuck, Elizabeth A, Collins, Andrea M, Dejnirattisai, Wanwisa, Dinesh, Tanya, Faust, Saul N, Ferreira, Daniela M, Finn, Adam, Green, Christopher A, Hallis, Bassam, Heath, Paul T, Hill, Helen, Lambe, Teresa, Lazarus, Rajeka, Libri, Vincenzo, Long, Fei, Mujadidi, Yama F, Plested, Emma L, Morey, Ella R, Provstgaard-Morys, Samuel, Ramasamy, Maheshi N, Ramsay, Mary, Read, Robert C, Robinson, Hannah, Screaton, Gavin R, Singh, Nisha, Turner, David P J, Turner, Paul J, Vichos, Iason, Walker, Laura L, White, Rachel, Nguyen-Van-Tam, Jonathan S, Snape, Matthew D
Publicado 2022

The Association of Black Cardiologists (ABC) Cardiovascular Implementation Study (CVIS): A Research Registry Integrating Social Determinants to Support Care for Underserved Patient...

por Ofili, Elizabeth O., Schanberg, Laura E., Hutchinson, Barbara, Sogade, Felix, Fergus, Icilma, Duncan, Phillip, Hargrove, Joe, Artis, Andre, Onyekwere, Osita, Batchelor, Wayne, Williams, Marcus, Oduwole, Adefisayo, Onwuanyi, Anekwe, Ojutalayo, Folake, Cross, Jo Ann, Seto, Todd B., Okafor, Henry, Pemu, Priscilla, Immergluck, Lilly, Foreman, Marilyn, Mensah, Ernest Alema, Quarshie, Alexander, Mubasher, Mohamed, Baker, Almelida, Ngare, Alnida, Dent, Andrew, Malouhi, Mohamad, Tchounwou, Paul, Lee, Jae, Hayes, Traci, Abdelrahim, Muna, Sarpong, Daniel, Fernandez-Repollet, Emma, Sodeke, Stephen O., Hernandez, Adrian, Thomas, Kevin, Dennos, Anne, Smith, David, Gbadebo, David, AJULUCHUKWU, Janet, Kong, B. Waine, McCollough, Cassandra, Weiler, Sarah R., Natter, Marc D., Mandl, Kenneth D., Murphy, Shawn
Publicado 2019

Development of PF-06671008, a Highly Potent Anti-P-cadherin/Anti-CD3 Bispecific DART Molecule with Extended Half-Life for the Treatment of Cancer

por Root, Adam R., Cao, Wei, Li, Bilian, LaPan, Peter, Meade, Caryl, Sanford, Jocelyn, Jin, Macy, O’Sullivan, Cliona, Cummins, Emma, Lambert, Matthew, Sheehan, Alfredo D., Ma, Weijun, Gatto, Scott, Kerns, Kelvin, Lam, Khetemenee, D’Antona, Aaron M., Zhu, Lily, Brady, William A., Benard, Susan, King, Amy, He, Tao, Racie, Lisa, Arai, Maya, Barrett, Dianah, Stochaj, Wayne, LaVallie, Edward R., Apgar, James R., Svenson, Kristine, Mosyak, Lidia, Yang, Yinhua, Chichili, Gurunadh R., Liu, Liqin, Li, Hua, Burke, Steve, Johnson, Syd, Alderson, Ralph, Finlay, William J. J., Lin, Laura, Olland, Stéphane, Somers, William, Bonvini, Ezio, Gerber, Hans-Peter, May, Chad, Moore, Paul A., Tchistiakova, Lioudmila, Bloom, Laird
Publicado 2016

Genetic epidemiology of SARS-CoV-2 transmission in renal dialysis units – A high risk community-hospital interface

por Li, Kathy K., Woo, Y. Mun, Stirrup, Oliver, Hughes, Joseph, Ho, Antonia, Filipe, Ana Da Silva, Johnson, Natasha, Smollett, Katherine, Mair, Daniel, Carmichael, Stephen, Tong, Lily, Nichols, Jenna, Aranday-Cortes, Elihu, Brunker, Kirstyn, Parr, Yasmin A., Nomikou, Kyriaki, McDonald, Sarah E., Niebel, Marc, Asamaphan, Patawee, Sreenu, Vattipally B, Robertson, David L., Taggart, Aislynn, Jesudason, Natasha, Shah, Rajiv, Shepherd, James, Singer, Josh, Taylor, Alison H.M., Cousland, Zoe, Price, Jonathan, Lees, Jennifer S., Jones, Timothy P.W., Lopez, Carlos Varon, MacLean, Alasdair, Starinskij, Igor, Gunson, Rory, Morris, Scott T.W., Thomson, Peter C., Geddes, Colin C., Traynor, Jamie P., Breuer, Judith, Thomson, Emma C., Mark, Patrick B.
Publicado 2021

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

por Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison, Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei
Publicado 2018

Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia

por van der Ende, Emma L, Xiao, Meifang, Xu, Desheng, Poos, Jackie M, Panman, Jessica L, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Heller, Carolin, Convery, Rhian, Moore, Katrina, Bocchetta, Martina, Neason, Mollie, Peakman, Georgia, Cash, David M, Teunissen, Charlotte E, Graff, Caroline, Synofzik, Matthis, Moreno, Fermin, Finger, Elizabeth, Sánchez-Valle, Raquel, Vandenberghe, Rik, Laforce Jr, Robert, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B, Butler, Christopher R, Ducharme, Simon, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Pijnenburg, Yolande AL, Otto, Markus, Borroni, Barbara, Tagliavini, Fabrizio, de Mendonca, Alexandre, Santana, Isabel, Galimberti, Daniela, Seelaar, Harro, Rohrer, Jonathan D, Worley, Paul F, van Swieten, John C
Publicado 2020