Uncovering the roles of rare variants in common disease through whole-genome sequencing von Goldstein, David B, Cirulli, Elizabeth T

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Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States von Washington, Nicole L., Gangavarapu, Karthik, Zeller, Mark, Bolze, Alexandre, Cirulli, Elizabeth T., Schiabor Barrett, Kelly M., Larsen, Brendan B., Anderson, Catelyn, White, Simon, Cassens, Tyler, Jacobs, Sharoni, Levan, Geraint, Nguyen, Jason, Ramirez, Jimmy M., Rivera-Garcia, Charlotte, Sandoval, Efren, Wang, Xueqing, Wong, David, Spencer, Emily, Robles-Sikisaka, Refugio, Kurzban, Ezra, Hughes, Laura D., Deng, Xianding, Wang, Candace, Servellita, Venice, Valentine, Holly, De Hoff, Peter, Seaver, Phoebe, Sathe, Shashank, Gietzen, Kimberly, Sickler, Brad, Antico, Jay, Hoon, Kelly, Liu, Jingtao, Harding, Aaron, Bakhtar, Omid, Basler, Tracy, Austin, Brett, MacCannell, Duncan, Isaksson, Magnus, Febbo, Phillip G., Becker, David, Laurent, Marc, McDonald, Eric, Yeo, Gene W., Knight, Rob, Laurent, Louise C., de Feo, Eileen, Worobey, Michael, Chiu, Charles Y., Suchard, Marc A., Lu, James T., Lee, William, Andersen, Kristian G.

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Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence von Savage, Jeanne E., Jansen, Philip R., Stringer, Sven, Bryois, Julien, Nagel, Mats, Awasthi, Swapnil, Barr, Peter B., Coleman, Jonathan R. I., Grasby, Katrina L., Hammerschlag, Anke R., Kaminski, Jakob A., Karlsson, Robert, Krapohl, Eva, Lam, Max, Nygaard, Marianne, Trampush, Joey W., Young, Hannah, Zabaneh, Delilah, Hägg, Sara, Hansell, Narelle K., Linnarsson, Sten, Montgomery, Grant W., Muñoz-Manchado, Ana B., Quinlan, Erin B., Schumann, Gunter, Webb, Bradley T., White, Tonya, Arking, Dan E., Avramopoulos, Dimitrios, Bilder, Robert M., Bitsios, Panos, Burdick, Katherine E., Cannon, Tyrone D., Christoforou, Andrea, Cirulli, Elizabeth T., Congdon, Eliza, Corvin, Aiden, Davies, Gail, Deary, Ian J., DeRosse, Pamela, Dickinson, Dwight, Djurovic, Srdjan, Donohoe, Gary, Eriksson, Johan G., Espeseth, Thomas, Freimer, Nelson A., Gill, Michael, Glahn, David C., Hariri, Ahmad R., Hatzimanolis, Alex, Keller, Matthew C., Knowles, Emma, Koltai, Deborah, Konte, Bettina, Lahti, Jari, Le Hellard, Stephanie, London, Edythe, Lundervold, Astri J., Malhotra, Anil K., Melle, Ingrid, Morris, Derek, Need, Anna C., Ollier, William, Palotie, Aarno, Payton, Antony, Poldrack, Russell A., Räikkönen, Katri, Reinvang, Ivar, Roussos, Panos, Sabb, Fred W., Scult, Matthew A., Smeland, Olav B., Smyrnis, Nikolaos, Starr, John M., Steen, Vidar M., Stefanis, Nikos C., Straub, Richard E., Sundet, Kjetil, Tiemeier, Henning, Voineskos, Aristotle N., Weinberger, Daniel R., Abecasis, Goncalo, Andreassen, Ole A., Breen, Gerome, Christiansen, Lene, Debrabant, Birgit, Dick, Danielle M., Heinz, Andreas, Hjerling-Leffler, Jens, Kendler, Kenneth S., Medland, Sarah E., Pedersen, Nancy L., Plomin, Robert, Polderman, Tinca J. C., Ripke, Stephan, van der Sluis, Sophie, Sullivan, Patrick F., Vrieze, Scott I., Wright, Margaret J., Posthuma, Danielle

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways von 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.

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Individual variation in contagious yawning susceptibility is highly stable and largely unexplained by empathy or other known factors von Bartholomew, Alex J, Cirulli, Elizabeth T

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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts von Cirulli, Elizabeth T., White, Simon, Read, Robert W., Elhanan, Gai, Metcalf, William J., Tanudjaja, Francisco, Fath, Donna M., Sandoval, Efren, Isaksson, Magnus, Schlauch, Karen A., Grzymski, Joseph J., Lu, James T., Washington, Nicole L.

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Analysis of Genetic and Non-Genetic Factors Influencing Timing and Time Perception von Bartholomew, Alex J, Meck, Warren H, Cirulli, Elizabeth T

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis von Wu, Chi-Hong, Fallini, Claudia, Ticozzi, Nicola, Keagle, Pamela J., Sapp, Peter C., Piotrowska, Katarzyna, Lowe, Patrick, Koppers, Max, McKenna-Yasek, Diane, Baron, Desiree M., Kost, Jason E., Gonzalez-Perez, Paloma, Fox, Andrew D., Adams, Jenni, Taroni, Franco, Tiloca, Cinzia, Leclerc, Ashley Lyn, Chafe, Shawn C., Mangroo, Dev, Moore, Melissa J., Zitzewitz, Jill A., Xu, Zuo-Shang, van den Berg, Leonard H., Glass, Jonathan D., Siciliano, Gabriele, Cirulli, Elizabeth T., Goldstein, David B., Salachas, Francois, Meininger, Vincent, Rossoll, Wilfried, Ratti, Antonia, Gellera, Cinzia, Bosco, Daryl A., Bassell, Gary J., Silani, Vincenzo, Drory, Vivian E., Brown Jr, Robert H., Landers, John E.

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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes von Zhu, Mingfu, Need, Anna C., Han, Yujun, Ge, Dongliang, Maia, Jessica M., Zhu, Qianqian, Heinzen, Erin L., Cirulli, Elizabeth T., Pelak, Kimberly, He, Min, Ruzzo, Elizabeth K., Gumbs, Curtis, Singh, Abanish, Feng, Sheng, Shianna, Kevin V., Goldstein, David B.

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The Increasing Importance of Gene-Based Analyses von Cirulli, Elizabeth T

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Common genetic variation and the control of HIV-1 in humans von Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V, Colombo, Sara, Ledergerber, Bruno, Cirulli, Elizabeth T, Urban, Thomas J, Zhang, Kunlin, Gumbs, Curtis E, Smith, Jason P, Castagna, Antonella, Cozzi-Lepri, Alessandro, De Luca, Andrea, Easterbrook, Philippa, Günthard, Huldrych F, Mallal, Simon, Mussini, Cristina, Dalmau, Judith, Martinez-Picado, Javier, Miro, José M, Obel, Niels, Wolinsky, Steven M, Martinson, Jeremy J, Detels, Roger, Margolick, Joseph B, Jacobson, Lisa P, Descombes, Patrick, Antonarakis, Stylianos E, Beckmann, Jacques S, O'Brien, Stephen J, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Carrington, Mary, Feng, Sheng, Telenti, Amalio, Goldstein, David B

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Identification and Characterization of Fenofibrate-Induced Liver Injury von Ahmad, Jawad, Odin, Joseph A., Hayashi, Paul H., Chalasani, Naga, Fontana, Robert J., Barnhart, Huiman, Cirulli, Elizabeth T., Kleiner, David E., Hoofnagle, Jay H.

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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene von Sobreira, Nara L M, Cirulli, Elizabeth T, Avramopoulos, Dimitrios, Wohler, Elizabeth, Oswald, Gretchen L, Stevens, Eric L, Ge, Dongliang, Shianna, Kevin V, Smith, Jason P, Maia, Jessica M, Gumbs, Curtis E, Pevsner, Jonathan, Thomas, George, Valle, David, Hoover-Fong, Julie E, Goldstein, David B

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HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination von Bolze, Alexandre, Neveux, Iva, Schiabor Barrett, Kelly M., White, Simon, Isaksson, Magnus, Dabe, Shaun, Lee, William, Grzymski, Joseph J., Washington, Nicole L., Cirulli, Elizabeth T.

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Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences von Bartholomew, Alex J, Lad, Eleonora M, Cao, Dingcai, Bach, Michael, Cirulli, Elizabeth T

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Inosine Triphosphate Protects Against Ribavirin-Induced Adenosine Triphosphate Loss by Adenylosuccinate Synthase Function von Hitomi, Yuki, Cirulli, Elizabeth T, Fellay, Jacques, McHutchison, John G, Thompson, Alexander J, Gumbs, Curtis E, Shianna, Kevin V, Urban, Thomas J, Goldstein, David B

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A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS von Gelfman, Sahar, Dugger, Sarah, de Araujo Martins Moreno, Cristiane, Ren, Zhong, Wolock, Charles J, Shneider, Neil A, Phatnani, Hemali, Cirulli, Elizabeth T, Lasseigne, Brittany N, Harris, Tim, Maniatis, Tom, Rouleau, Guy A, Brown, Jr, Robert H, Gitler, Aaron D, Myers, Richard M, Petrovski, Slavé, Allen, Andrew, Goldstein, David B, Harms, Matthew B

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SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads von Bolze, Alexandre, Luo, Shishi, White, Simon, Cirulli, Elizabeth T., Wyman, Dana, Dei Rossi, Andrew, Machado, Henrique, Cassens, Tyler, Jacobs, Sharoni, Schiabor Barrett, Kelly M., Tanudjaja, Francisco, Tsan, Kevin, Nguyen, Jason, Ramirez, Jimmy M., Sandoval, Efren, Wang, Xueqing, Wong, David, Becker, David, Laurent, Marc, Lu, James T., Isaksson, Magnus, Washington, Nicole L., Lee, William

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Screening the human exome: a comparison of whole genome and whole transcriptome sequencing von Cirulli, Elizabeth T, Singh, Abanish, Shianna, Kevin V, Ge, Dongliang, Smith, Jason P, Maia, Jessica M, Heinzen, Erin L, Goedert, James J, Goldstein, David B

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The characterization of twenty sequenced human genomes von Pelak, Kimberly, Shianna, Kevin V, Ge, Dongliang, Maia, Jessica M, Zhu, Mingfu, Smith, Jason P, Cirulli, Elizabeth T, Fellay, Jacques, Dickson, Samuel P, Gumbs, Curtis E, Heinzen, Erin L, Need, Anna C, Ruzzo, Elizabeth K, Singh, Abanish, Campbell, C Ryan, Hong, Linda K, Lornsen, Katharina A, McKenzie, Alexander M, Sobreira, Nara L M, Hoover-Fong, Julie E, Milner, Joshua D, Ottman, Ruth, Haynes, Barton F, Goedert, James J, Goldstein, David B

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