TP53, CDKN2A/P16, and NFE2L2/NRF2 regulate the incidence of pure- and combined-small cell lung cancer in mice

by Hamad, Samera H, Montgomery, Stephanie A, Simon, Jeremy M, Bowman, Brittany M, Spainhower, Kyle B, Murphy, Ryan M, Knudsen, Erik S, Fenton, Suzanne E, Randell, Scott H, Holt, Jeremiah R, Hayes, D Neil, Witkiewicz, Agnieszka K, Oliver, Trudy G, Major, M Ben, Weissman, Bernard E
Published in Oncogene

Lineage abundance estimation for SARS-CoV-2 in wastewater using transcriptome quantification techniques

by Baaijens, Jasmijn A, Zulli, Alessandro, Ott, Isabel M, Nika, Ioanna, van der Lugt, Mart J, Petrone, Mary E, Alpert, Tara, Fauver, Joseph R, Kalinich, Chaney C, Vogels, Chantal B F, Breban, Mallery I, Duvallet, Claire, McElroy, Kyle A, Ghaeli, Newsha, Imakaev, Maxim, Mckenzie-Bennett, Malaika F, Robison, Keith, Plocik, Alex, Schilling, Rebecca, Pierson, Martha, Littlefield, Rebecca, Spencer, Michelle L, Simen, Birgitte B, Hanage, William P, Grubaugh, Nathan D, Peccia, Jordan, Baym, Michael
Published in Genome Biology

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

by Phillips, Jennifer B., Lanza, Denise G., Jain, Mahim, Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Gibbs, Richard A., Rosenfeld, Jill A., Postlethwait, John, Beaudet, Arthur L., Ranza, Emmanuelle, Cormier-Daire, Valérie, Orange, Jordan S., Allard, Patrick, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Briere, Lauren C., Brokamp, Elly, Brush, Matthew, Coakley, Terra R., Cope, Heidi, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Glanton, Emily, Goldman, Alica M., Gourdine, Jean-Philippe F., Groden, Catherine A., Haendel, Melissa, Hamid, Rizwan, High, Frances, Huang, Yong, Karaviti, Lefkothea, Kohler, Jennefer N., Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lee, Hane, Loo, Sandra K., Loscalzo, Joseph, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Murdock, David R., Newberry, J. Scott, Nicholas, Sarah K., Palmer, Christina G.S., Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Pusey, Barbara N., Sampson, Jacinda B., Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tan, Queenie K.-G., Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Wangler, Michael F., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Yang, John, Yang, Yaping, Yoon, Amanda J., Zastrow, Diane B., Zhao, Chunli, Offiah, Amaka C., Carey, John C., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan
Published in American journal of human genetics

Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland

by Wang, Sophie R., Agarwala, Vineeta, Flannick, Jason, Chiang, Charleston W.K., Altshuler, David, Flannick, Jason, Manning, Alisa, Hartl, Christopher, Agarwala, Vineeta, Fontanillas, Pierre, Green, Todd, Banks, Eric, DePristo, Mark, Poplin, Ryan, Shakir, Khalid, Fennell, Timothy, Murphy, Jacquelyn, Burtt, Noël, Gabriel, Stacey, Altshuler, David, Fuchsberger, Christian, Kang, Hyun Min, Sim, Xueling, Ma, Clement, Locke, Adam, Blackwell, Thomas, Jackson, Anne, Teslovich, Tanya, Stringham, Heather, Chines, Peter, Kwan, Phoenix, Huyghe, Jeroen, Tan, Adrian, Jun, Goo, Stitzel, Michael, Bergman, Richard N., Bonnycastle, Lori, Tuomilehto, Jaakko, Collins, Francis S., Scott, Laura, Mohlke, Karen, Abecasis, Gonçalo, Boehnke, Michael, Strom, Tim, Gieger, Christian, Müller-Nurasyid, Martina, Grallert, Harald, Kriebel, Jennifer, Ried, Janina, Hrabé de Angelis, Martin, Huth, Cornelia, Meisinger, Christa, Peters, Annette, Rathmann, Wolfgang, Strauch, Konstantin, Meitinger, Thomas, Kravic, Jasmina, Ladenvall, Claes, Toumi, Tiinamaija, Isomaa, Bo, Groop, Leif, Gaulton, Kyle, Moutsianas, Loukas, Rivas, Manny, Pearson, Richard, Mahajan, Anubha, Prokopenko, Inga, Kumar, Ashish, Perry, John, Chen, Jeff, Howie, Bryan, van de Bunt, Martijn, Small, Kerrin, Lindgren, Cecilia, Lunter, Gerton, Robertson, Neil, Rayner, Will, Morris, Andrew, Buck, David, Hattersley, Andrew, Spector, Tim, McVean, Gil, Frayling, Tim, Donnelly, Peter, McCarthy, Mark, Hirschhorn, Joel N.
Published in American journal of human genetics

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

by Cassini, Thomas A., Rives, Lynette C., Newman, John H., Koziura, Mary E., Hamid, Rizwan, Adams, Christopher, Adams, David, Alejandro, Mercedes, Allard, Patrick, Ashley, Euan, Bacino, Carlos, Balasubramanyam, Ashok, Barseghyan, Hayk, Bellen, Hugo, Boone, Braden, Bostwick, Bret, Briere, Lauren, Burke, Elizabeth, Burrage, Lindsay, Chao, Katherine, Clark, Gary, Dhar, Shweta, Donnell‐Fink, Laurel, Eckstein, David, Frisby, Trevor, Gartner, Valerie, Godfrey, Rena, Goheen, Mitchell, Golas, Gretchen, Goldstein, David, Gordon, Mary, Gould, Sarah, Gourdine, Jean‐Philippe, Hanchard, Neil, Handley, Lori, Herzog, Matthew, Holm, Ingrid, Howerton, Ellen, Jacob, Howard, Jain, Mahim, Jiang, Yong‐hui, Johnston, Jean, Jones, Angela, Koehler, Alanna, Kohler, Jennefer, Krier, Joel, Lalani, Seema, Latour, Yvonne, Lee, Brendan, Lee, Hane, Lee, Paul, Levy, Shawn, Lewis, Richard, Lincoln, Sharyn, Loscalzo, Joseph, Maas, Richard, MacRae, Calum, Malicdan, May Christine, Mamounas, Laura, McCarty, Alexandra, McCray, Alexa, Might, Matthew, Mulvihill, John, Murphy, Jennifer, Muzny, Donna, Nehrebecky, Michele, Nelson, Stan, Novacic, Donna, Carl Pallais, J, Posey, Jennifer, Potocki, Lorraine, Ramoni, Rachel, Rodan, Lance, Rosenfeld, Jill, Samson, Susan, Schaffer, Katherine, Sharma, Prashant, Shashi, Vandana, Silverman, Edwin, Soldatos, Ariane, Spillmann, Rebecca, Splinter, Kimberly, Stoler, Joan, Stong, Nicholas, Strong, Kimberly, Sullivan, Jennifer, Tifft, Cynthia, Vilain, Eric, Vogel, Tiphanie, Waggott, Daryl, Wahl, Colleen, Waters, Katrina, Webb‐Robertson, Bobbie‐Jo, Westerfield, Monte, Wheeler, Matthew, Wise, Anastasia, Wolfe, Lynne, Worthey, Elizabeth, Yamamoto, Shinya, Yang, Yaping
Published in Molecular genetics & genomic medicine