Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

by Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.
Published in Science (American Association for the Advancement of Science)

Excitation Light Dose Engineering to Reduce Photo-bleaching and Photo-toxicity

by Boudreau, Colton, Wee, Tse-Luen Erika, Duh, Yan-Rung Silvia, Couto, Melissa P, Ardakani, Kimya H, Brown, Claire M
Published in Scientific reports

The JWST Early Release Observations

by Pontoppidan, Klaus M., Barrientes, Jaclyn, Blome, Claire, Braun, Hannah, Brown, Matthew, Carruthers, Margaret, Coe, Dan, DePasquale, Joseph, Espinoza, Néstor, Marin, Macarena Garcia, Gordon, Karl D., Henry, Alaina, Hustak, Leah, James, Andi, Jenkins, Ann, Koekemoer, Anton M., LaMassa, Stephanie, Law, David, Lockwood, Alexandra, Moro-Martin, Amaya, Mullally, Susan E., Pagan, Alyssa, Player, Dani, Proffitt, Charles, Pulliam, Christine, Ramsay, Leah, Ravindranath, Swara, Reid, Neill, Robberto, Massimo, Sabbi, Elena, Ubeda, Leonardo, Balogh, Michael, Flanagan, Kathryn, Gardner, Jonathan, Hasan, Hashima, Meinke, Bonnie, Nota, Antonella
Published in Astrophysical journal. Letters

Streptozotocin-induced hyperglycemia alters the cecal metabolome and exacerbates antibiotic-induced dysbiosis

by Wurster, Jenna I., Peterson, Rachel L., Brown, Claire E., Penumutchu, Swathi, Guzior, Douglas V., Neugebauer, Kerri, Sano, William H., Sebastian, Manu M., Quinn, Robert A., Belenky, Peter
Published in Cell reports (Cambridge)

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

by Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł
Published in American journal of human genetics

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

by Smith, Bradley N, Vance, Caroline, Scotter, Emma L, Troakes, Claire, Wong, Chun Hao, Topp, Simon, Maekawa, Satomi, King, Andrew, Mitchell, Jacqueline C, Lund, Karan, Al-Chalabi, Ammar, Ticozzi, Nicola, Silani, Vincenzo, Sapp, Peter, Brown, Robert H, Landers, John E, Al-Sarraj, Safa, Shaw, Christopher E
Published in Neurobiology of aging

Effect of Noninvasive Respiratory Strategies on Intubation or Mortality Among Patients With Acute Hypoxemic Respiratory Failure and COVID-19: The RECOVERY-RS Randomized Clinical Tr...

by Perkins, Gavin D, Ji, Chen, Connolly, Bronwen A, Couper, Keith, Lall, Ranjit, Baillie, J. Kenneth, Bradley, Judy M, Dark, Paul, Dave, Chirag, De Soyza, Anthony, Dennis, Anna V, Devrell, Anne, Fairbairn, Sara, Ghani, Hakim, Gorman, Ellen A, Green, Christopher A, Hart, Nicholas, Hee, Siew Wan, Kimbley, Zoe, Madathil, Shyam, McGowan, Nicola, Messer, Benjamin, Naisbitt, Jay, Norman, Chloe, Parekh, Dhruv, Parkin, Emma M, Patel, Jaimin, Regan, Scott E, Ross, Clare, Rostron, Anthony J, Saim, Mohammad, Simonds, Anita K, Skilton, Emma, Stallard, Nigel, Steiner, Michael, Vancheeswaran, Rama, Yeung, Joyce, McAuley, Daniel F
Published in JAMA : the journal of the American Medical Association

The W. M. Keck Observatory Laser Guide Star Adaptive Optics System: Overview

by Wizinowich, Peter L., Le Mignant, David, Bouchez, Antonin H., Campbell, Randy D., Chin, Jason C. Y., Contos, Adam R., van Dam, Marcos A., Hartman, Scott K., Johansson, Erik M., Lafon, Robert E., Lewis, Hilton, Stomski, Paul J., Summers, Douglas M., Brown, Curtis G., Danforth, Pamela M., Max, Claire E., Pennington, Deanna M.
Published in Publications of the Astronomical Society of the Pacific

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

by Simpson, Claire L., Lemmens, Robin, Miskiewicz, Katarzyna, Broom, Wendy J., Hansen, Valerie K., van Vught, Paul W.J., Landers, John E., Sapp, Peter, Van Den Bosch, Ludo, Knight, Joanne, Neale, Benjamin M., Turner, Martin R., Veldink, Jan H., Ophoff, Roel A., Tripathi, Vineeta B., Beleza, Ana, Shah, Meera N., Proitsi, Petroula, Van Hoecke, Annelies, Carmeliet, Peter, Horvitz, H. Robert, Leigh, P. Nigel, Shaw, Christopher E., van den Berg, Leonard H., Sham, Pak C., Powell, John F., Verstreken, Patrik, Brown, Robert H., Robberecht, Wim, Al-Chalabi, Ammar
Published in Human molecular genetics

Phase 3 Safety and Efficacy of AZD1222 (ChAdOx1 nCoV-19) Covid-19 Vaccine

by Falsey, Ann R, Sobieszczyk, Magdalena E, Hirsch, Ian, Sproule, Stephanie, Robb, Merlin L, Corey, Lawrence, Neuzil, Kathleen M, Hahn, William, Hunt, Julie, Mulligan, Mark J, McEvoy, Charlene, DeJesus, Edwin, Hassman, Michael, Little, Susan J, Pahud, Barbara A, Durbin, Anna, Pickrell, Paul, Daar, Eric S, Bush, Larry, Solis, Joel, Quito Osuna Carr, Oyedele, Temitope, Buchbinder, Susan, Cowden, Jessica, Vargas, Sergio L, Benavides, Alfredo Guerreros, Call, Robert, Keefer, Michael C, Kirkpatrick, Beth D, Pullman, John, Tong, Tina, Isaacs, Margaret Brewinski, Benkeser, David, Janes, Holly E, Nason, Martha C, Green, Justin A, Kelly, Elizabeth J, Maaske, Jill, Mueller, Nancy, Shoemaker, Kathryn, Takas, Therese, Marshall, Richard P, Pangalos, Menelas N, Villafana, Tonya, Gonzalez-Lopez, Antonio
Published in New England Journal of Medicine

Intravenous Iron Dosing and Infection Risk in Patients on Hemodialysis: A Prespecified Secondary Analysis of the PIVOTAL Trial

by Macdougall, Iain C, Bhandari, Sunil, White, Claire, Anker, Stefan D, Farrington, Kenneth, Kalra, Philip A, Mark, Patrick B, McMurray, John J V, Reid, Chante, Robertson, Michele, Tomson, Charles R V, Wheeler, David C, Winearls, Christopher G, Ford, Ian
Published in Journal of the American Society of Nephrology

TYROBP genetic variants in early-onset Alzheimer's disease

by Pottier, Cyril, Ravenscroft, Thomas A, Brown, Patricia H, Finch, NiCole A, Baker, Matt, Parsons, Meeia, Asmann, Yan W, Ren, Yingxue, Christopher, Elizabeth, Levitch, Denise, van Blitterswijk, Marka, Cruchaga, Carlos, Campion, Dominique, Nicolas, Gaël, Richard, Anne-Claire, Guerreiro, Rita, Bras, Jose T, Zuchner, Stephan, Gonzalez, Michael A, Bu, Guojun, Younkin, Steven, Knopman, David S, Josephs, Keith A, Parisi, Joseph E, Petersen, Ronald C, Ertekin-Taner, Nilüfer, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Rademakers, Rosa
Published in Neurobiology of aging

Electronic Confinement and Coherence in Patterned Epitaxial Graphene

by Berger, Claire, Song, Zhimin, Li, Xuebin, Wu, Xiaosong, Brown, Nate, Naud, Cécile, Mayou, Didier, Li, Tianbo, Hass, Joanna, Marchenkov, Alexei N, Conrad, Edward H, First, Phillip N, de Heer, Walt A
Published in Science (American Association for the Advancement of Science)

Acquired Resistance to the Mutant-Selective EGFR Inhibitor AZD9291 Is Associated with Increased Dependence on RAS Signaling in Preclinical Models

by Eberlein, Catherine A, Stetson, Daniel, Markovets, Aleksandra A, Al-Kadhimi, Katherine J, Lai, Zhongwu, Fisher, Paul R, Meador, Catherine B, Spitzler, Paula, Ichihara, Eiki, Ross, Sarah J, Ahdesmaki, Miika J, Ahmed, Ambar, Ratcliffe, Laura E, O'Brien, Elizabeth L Christey, Barnes, Claire H, Brown, Henry, Smith, Paul D, Dry, Jonathan R, Beran, Garry, Thress, Kenneth S, Dougherty, Brian, Pao, William, Cross, Darren A E
Published in Cancer research (Chicago, Ill.)

SARS-CoV-2 RNA concentrations in wastewater foreshadow dynamics and clinical presentation of new COVID-19 cases

by Wu, Fuqing, Xiao, Amy, Zhang, Jianbo, Moniz, Katya, Endo, Noriko, Armas, Federica, Bonneau, Richard, Brown, Megan A., Bushman, Mary, Chai, Peter R., Duvallet, Claire, Erickson, Timothy B., Foppe, Katelyn, Ghaeli, Newsha, Gu, Xiaoqiong, Hanage, William P., Huang, Katherine H., Lee, Wei Lin, Matus, Mariana, McElroy, Kyle A., Nagler, Jonathan, Rhode, Steven F., Santillana, Mauricio, Tucker, Joshua A., Wuertz, Stefan, Zhao, Shijie, Thompson, Janelle, Alm, Eric J.
Published in The Science of the total environment

HIV and syphilis testing preferences among men who have sex with men and among transgender women in Lima, Peru

by Bristow, Claire C, Kojima, Noah, Lee, Sung-Jae, Leon, Segundo R, Ramos, Lourdes B, Konda, Kelika A, Brown, Brandon, Caceres, Carlos F, Klausner, Jeffrey D
Published in PloS one

Thiolate-Thione Redox-Active Ligand with a Six-Membered Chelate Ring via Template Condensation and Its Pt(II) Complexes

by Zuckerman, Linda A, Vargo, Natasha P, May, Claire V, Crockett, Michael P, Hyre, Ariel S, McNeely, James, Elinburg, Jessica K, Brown, Alexander M, Robinson, Jerome R, Rheingold, Arnold L, Doerrer, Linda H
Published in Inorganic chemistry

Intercontinental dissemination of azithromycin-resistant shigellosis through sexual transmission: a cross-sectional study

by Baker, Kate S, PhD, Dallman, Timothy J, PhD, Ashton, Philip M, PhD, Day, Martin, BSc, Hughes, Gwenda, PhD, Crook, Paul D, MSc, Gilbart, Victoria L, MSc, Zittermann, Sandra, PhD, Allen, Vanessa G, MD, Howden, Benjamin P, Prof, Tomita, Takehiro, PhD, Valcanis, Mary, MPH, Harris, Simon R, PhD, Connor, Thomas R, PhD, Sintchenko, Vitali, PhD, Howard, Peter, BSc, Brown, Jeremy D, MBBS, Petty, Nicola K, PhD, Gouali, Malika, PharmD, Thanh, Duy Pham, MSc, Keddy, Karen H, BSc (Med), Smith, Anthony M, PhD, Talukder, Kaisar A, PhD, Faruque, Shah M, PhD, Parkhill, Julian, Prof, Baker, Stephen, Prof, Weill, François-Xavier, PhD, Jenkins, Claire, PhD, Thomson, Nicholas R, Prof
Published in The Lancet infectious diseases

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

by Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Simpson, Michael, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.
Published in Neuron (Cambridge, Mass.)

A reference map of potential determinants for the human serum metabolome

by Bar, Noam, Korem, Tal, Weissbrod, Omer, Zeevi, David, Rothschild, Daphna, Leviatan, Sigal, Kosower, Noa, Lotan-Pompan, Maya, Weinberger, Adina, Le Roy, Caroline I, Menni, Cristina, Visconti, Alessia, Falchi, Mario, Spector, Tim D, Adamski, Jerzy, Franks, Paul W, Pedersen, Oluf, Segal, Eran
Published in Nature (London)