Casirivimab and Imdevimab Treatment Reduces Viral Load and Improves Clinical Outcomes in Seropositive Hospitalized COVID-19 Patients with Nonneutralizing or Borderline Neutralizing Antibodies
Hooper, Andrea T, Somersan-Karakaya, Selin, McCarthy, Shane E, Mylonakis, Eleftherios, Ali, Shazia, Mei, Jingning, Bhore, Rafia, Mahmood, Adnan, Geba, Gregory P, Dakin, Paula, Weinreich, David M, Yancopoulos, George D, Herman, Gary A, Hamilton, Jennifer D
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Published in mBio (20.12.2022)
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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
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Published in European journal of human genetics : EJHG (01.06.2011)
Published in European journal of human genetics : EJHG (01.06.2011)
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Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, Tom, McClellan, Jon M., McCarthy, Shane E., Addington, Anjené M., Pierce, Sarah B., Cooper, Greg M., Nord, Alex S., Kusenda, Mary, Malhotra, Dheeraj, Bhandari, Abhishek, Stray, Sunday M., Rippey, Caitlin F., Roccanova, Patricia, Makarov, Vlad, Lakshmi, B., Findling, Robert L., Sikich, Linmarie, Stromberg, Thomas, Merriman, Barry, Gogtay, Nitin, Butler, Philip, Eckstrand, Kristen, Noory, Laila, Gochman, Peter, Long, Robert, Chen, Zugen, Davis, Sean, Baker, Carl, Eichler, Evan E., Meltzer, Paul S., Nelson, Stanley F., Singleton, Andrew B., Lee, Ming K., Rapoport, Judith L., King, Mary-Claire, Sebat, Jonathan
Published in Science (American Association for the Advancement of Science) (25.04.2008)
Published in Science (American Association for the Advancement of Science) (25.04.2008)
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Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes
Staples, Jeffrey, Maxwell, Evan K., Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Snyder, Christopher, Hawes, Alicia, Penn, John, Ulloa, Ricardo, Bai, Xiaodong, Lopez, Alexander E., Van Hout, Cristopher V., O’Dushlaine, Colm, Teslovich, Tanya M., McCarthy, Shane E., Balasubramanian, Suganthi, Kirchner, H. Lester, Leader, Joseph B., Murray, Michael F., Ledbetter, David H., Shuldiner, Alan R., Yancoupolos, George D., Dewey, Frederick E., Carey, David J., Overton, John D., Baras, Aris, Habegger, Lukas, Reid, Jeffrey G.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Unlocking the Treasure Trove: From Genes to Schizophrenia Biology
MCCARTHY, Shane E, MCCOMBIE, W. Richard, CORVIN, Aiden
Published in Schizophrenia bulletin (01.05.2014)
Published in Schizophrenia bulletin (01.05.2014)
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Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.
Published in Nature genetics (01.04.2022)
Published in Nature genetics (01.04.2022)
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Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
Kosmicki, Jack A., Horowitz, Julie E., Banerjee, Nilanjana, Lanche, Rouel, Marcketta, Anthony, Maxwell, Evan, Bai, Xiaodong, Sun, Dylan, Backman, Joshua D., Sharma, Deepika, Kury, Fabricio S.P., Kang, Hyun M., O’Dushlaine, Colm, Yadav, Ashish, Mansfield, Adam J., Li, Alexander H., Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Locke, Adam E., Khalid, Shareef, O’Keeffe, Sean, Mbatchou, Joelle, Chazara, Olympe, Huang, Yunfeng, Kvikstad, Erika, O’Neill, Amanda, Nioi, Paul, Parker, Meg M., Petrovski, Slavé, Runz, Heiko, Szustakowski, Joseph D., Wang, Quanli, Wong, Emily, Cordova-Palomera, Aldo, Smith, Erin N., Szalma, Sandor, Zheng, Xiuwen, Esmaeeli, Sahar, Davis, Justin W., Lai, Yi-Pin, Chen, Xing, Justice, Anne E., Leader, Joseph B., Mirshahi, Tooraj, Carey, David J., Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Rader, Daniel J., Povysil, Gundula, Goldstein, David B., Kiryluk, Krzysztof, Pairo-Castineira, Erola, Rawlik, Konrad, Pasko, Dorota, Walker, Susan, Meynert, Alison, Kousathanas, Athanasios, Moutsianas, Loukas, Tenesa, Albert, Caulfield, Mark, Scott, Richard, Wilson, James F., Baillie, J. Kenneth, Butler-Laporte, Guillaume, Nakanishi, Tomoko, Lathrop, Mark, Richards, J. Brent, Jones, Marcus, Balasubramanian, Suganthi, Salerno, William, Shuldiner, Alan R., Marchini, Jonathan, Overton, John D., Habegger, Lukas, Cantor, Michael N., Reid, Jeffrey G., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A.R.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
McCarthy, S E, Gillis, J, Kramer, M, Lihm, J, Yoon, S, Berstein, Y, Mistry, M, Pavlidis, P, Solomon, R, Ghiban, E, Antoniou, E, Kelleher, E, O'Brien, C, Donohoe, G, Gill, M, Morris, D W, McCombie, W R, Corvin, A
Published in Molecular psychiatry (01.06.2014)
Published in Molecular psychiatry (01.06.2014)
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Microduplications of 16p11.2 are associated with schizophrenia
Walsh, Tom, Gary, Sydney, Sutcliffe, James S, Addington, Anjene M, Chitkara, Nisha, Levy, Deborah L, Cichon, Sven, DeRosse, Pamela, Malhotra, Anil K, Leibenluft, Ellen, Dickel, Diane E, Lee, Yoon-ha, Zackai, Elaine H, Stroup, T Scott, McCarthy, Shane E, Crow, Timothy J, McMahon, Francis J, Lakshmi, B, Christian, Susan L, Malhotra, Dheeraj, McClellan, Jon, Goodell, Meredith, Spinner, Nancy B, Pearl, Justin, Wolff, Jessica, Bhandari, Abhishek, Iakoucheva, Lilia M, Deutsch, Curtis K, Pavon, Kevin, Nöthen, Markus M, Gallagher, Louise, Roccanova, Patricia, Lieberman, Jeffrey A, DeLisi, Lynn E, Puura, Kaija, Skuse, David, Rapoport, Judith, Willour, Virginia L, Kirov, George, Vacic, Vladimir, Makarov, Vladimir, Haldeman-Englert, Chad, Sullivan, Patrick F, Schulze, Thomas G, Craddock, Nick, Kendall, Jude, Perkins, Diana O, Kusenda, Mary, Lehtimäki, Terho, Kassem, Layla, Yoon, Seungtai, Krastoshevsky, Olga, Sebat, Jonathan, Owen, Michael J, Ganesh, Jaya, Gill, Michael, King, Mary-Claire, Steele, Jo, Krause, Verena, Susser, Ezra, Mendell, Nancy R, Leotta, Anthony, Shaikh, Tamim H, Kaplan, Paige, Potash, James B, Krantz, Ian D, Grozeva, Detelina, Lajonchere, Clara M, O'Donovan, Michael C, Kustanovich, Vlad, Rietschel, Marcella, Kumar, Ravinesh A
Published in Nature genetics (01.11.2009)
Published in Nature genetics (01.11.2009)
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
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Altered DNA methylation associated with a translocation linked to major mental illness
McCartney, Daniel L., Walker, Rosie M., Morris, Stewart W., Anderson, Susan M., Duff, Barbara J., Marioni, Riccardo E., Millar, J. Kirsty, McCarthy, Shane E., Ryan, Niamh M., Lawrie, Stephen M., Watson, Andrew R., Blackwood, Douglas H. R., Thomson, Pippa A., McIntosh, Andrew M., McCombie, W. Richard, Porteous, David J., Evans, Kathryn L.
Published in NPJ schizophrenia (19.03.2018)
Published in NPJ schizophrenia (19.03.2018)
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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay
Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.
Published in Nature genetics (14.02.2010)
Published in Nature genetics (14.02.2010)
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Detection of rare disease-related genetic variants using the birthday model
Berstein, Yael, Mccarthy, Shane E, Kramer, Melissa, Mccombie, W Richard
Published in bioRxiv (07.11.2018)
Published in bioRxiv (07.11.2018)
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Casirivimab and Imdevimab Treatment in Seropositive, Hospitalized COVID-19 Patients With Non-neutralizing or Borderline Neutralizing Antibodies
Hooper, Andrea T, Somersan-Karakaya, Selin, Mccarthy, Shane E, Mylonakis, Eleftherios, Ali, Shazia, Jingning Mei, Bhore, Rafia, Mahmood, Adnan, Geba, Gregory P, Dakin, Paula, Weinreich, David M, Yancopoulos, George D, Herman, Gary A, Hamilton, Jennifer D, The Covid-19 Phase 2/3 Hospitalized Trial Team
Published in medRxiv (14.06.2022)
Published in medRxiv (14.06.2022)
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KaryoScan: abnormal karyotype detection from whole-exome sequence
Maxwell, Evan K, Gonzaga-Jauregui, Claudia, Mccarthy, Shane E, O'dushlaine, Colm, Staples, Jeffrey, Lopez, Alexander E, Bai, Xiaodong, Penn, John, Ulloa, Rick, Gottesman, Omri, Baras, Aris, Dewey, Frederick E, Overton, John D, Puffenberger, Erik, Habegger, Lukas, Reid, Jeffrey G
Published in bioRxiv (17.10.2017)
Published in bioRxiv (17.10.2017)
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Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes
Staples, Jeffrey, Maxwell, Evan K, Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Snyder, Christopher, Hawes, Alicia, Penn, John, Ulloa, Ricardo, Bai, Xiadong, Lopez, Alexander E, Van Hout, Cristopher V, O'dushlaine, Colm, Teslovich, Tanya M, Mccarthy, Shane E, Balasubramanian, Suganthi, H Lester Kirchner, Leader, Joseph B, Murray, Michael F, Ledbetter, David H, Shuldiner, Alan R, Yancoupolos, George, Dewey, Frederick E, Carey, David J, Overton, John D, Baras, Aris, Habegger, Lukas, Reid, Jeffrey G
Published in bioRxiv (03.10.2017)
Published in bioRxiv (03.10.2017)
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Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
Maxwell, Evan K, Packer, Jonathan S, O'dushlaine, Colm, Mccarthy, Shane E, Hare-Harris, Abby, Staples, Jeffrey, Gonzaga-Jauregui, Claudia, Fetterolf, Samantha N, Faucett, W Andrew, Leader, Joseph B, Moreno-De-Luca, Andres, Giusy Della Gatta, Scollan, Margaret, Persaud, Trikaldarshi, Penn, John, Hawes, Alicia, Bai, Xiaodong, Wolf, Sarah, Lopez, Alexander E, Ulloa, Rick, Spangel, Christopher, Chernomorksy, Rostislav, Borecki, Ingrid B, Dewey, Frederick E, Economides, Aris N, Overton, John D, H Lester Kirchner, Murray, Michael F, Ritchie, Marylyn D, Carey, David J, Ledbetter, David H, Yancopoulos, George D, Shuldiner, Alan R, Baras, Aris, Gottesman, Omri, Habegger, Lukas, Martin, Christa Lese, Reid, Jeffrey G
Published in bioRxiv (22.03.2017)
Published in bioRxiv (22.03.2017)
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