10 Years of GWAS Discovery: Biology, Function, and Translation
Visscher, Peter M., Wray, Naomi R., Zhang, Qian, Sklar, Pamela, McCarthy, Mark I., Brown, Matthew A., Yang, Jian
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Pardiñas, Antonio F., Holmans, Peter, Pocklington, Andrew J., Escott-Price, Valentina, Ripke, Stephan, Carrera, Noa, Legge, Sophie E., Bishop, Sophie, Cameron, Darren, Hamshere, Marian L., Han, Jun, Hubbard, Leon, Lynham, Amy, Mantripragada, Kiran, Rees, Elliott, MacCabe, James H., McCarroll, Steven A., Baune, Bernhard T., Breen, Gerome, Byrne, Enda M., Dannlowski, Udo, Eley, Thalia C., Hayward, Caroline, Martin, Nicholas G., McIntosh, Andrew M., Plomin, Robert, Porteous, David J., Wray, Naomi R., Caballero, Armando, Geschwind, Daniel H., Huckins, Laura M., Ruderfer, Douglas M., Santiago, Enrique, Sklar, Pamela, Stahl, Eli A., Won, Hyejung, Agerbo, Esben, Als, Thomas D., Andreassen, Ole A., Bækvad-Hansen, Marie, Mortensen, Preben Bo, Pedersen, Carsten Bøcker, Børglum, Anders D., Bybjerg-Grauholm, Jonas, Djurovic, Srdjan, Durmishi, Naser, Pedersen, Marianne Giørtz, Golimbet, Vera, Grove, Jakob, Hougaard, David M., Mattheisen, Manuel, Molden, Espen, Mors, Ole, Nordentoft, Merete, Pejovic-Milovancevic, Milica, Sigurdsson, Engilbert, Silagadze, Teimuraz, Hansen, Christine Søholm, Stefansson, Kari, Stefansson, Hreinn, Steinberg, Stacy, Tosato, Sarah, Werge, Thomas, Collier, David A., Rujescu, Dan, Kirov, George, Owen, Michael J., O’Donovan, Michael C., Walters, James T. R.
Published in Nature genetics (01.03.2018)
Published in Nature genetics (01.03.2018)
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Analysis of protein-coding genetic variation in 60,706 humans
Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.
Published in Nature (London) (18.08.2016)
Published in Nature (London) (18.08.2016)
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Comparative genetic architectures of schizophrenia in East Asian and European populations
Lam, Max, Chen, Chia-Yen, Li, Zhiqiang, Martin, Alicia R., Bryois, Julien, Ma, Xixian, Gaspar, Helena, Ikeda, Masashi, Benyamin, Beben, Brown, Brielin C., Liu, Ruize, Zhou, Wei, Guan, Lili, Kamatani, Yoichiro, Kim, Sung-Wan, Kubo, Michiaki, Kusumawardhani, Agung A. A. A., Liu, Chih-Min, Ma, Hong, Periyasamy, Sathish, Takahashi, Atsushi, Xu, Zhida, Yu, Hao, Zhu, Feng, Chen, Wei J., Faraone, Stephen, Glatt, Stephen J., He, Lin, Hyman, Steven E., Hwu, Hai-Gwo, McCarroll, Steven A., Neale, Benjamin M., Sklar, Pamela, Wildenauer, Dieter B., Yu, Xin, Zhang, Dai, Mowry, Bryan J., Lee, Jimmy, Holmans, Peter, Xu, Shuhua, Sullivan, Patrick F., Ripke, Stephan, O’Donovan, Michael C., Daly, Mark J., Qin, Shengying, Sham, Pak, Iwata, Nakao, Hong, Kyung S., Schwab, Sibylle G., Yue, Weihua, Tsuang, Ming, Liu, Jianjun, Ma, Xiancang, Kahn, René S., Shi, Yongyong, Huang, Hailiang
Published in Nature genetics (01.12.2019)
Published in Nature genetics (01.12.2019)
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De novo mutations in schizophrenia implicate synaptic networks
Fromer, Menachem, Pocklington, Andrew J., Kavanagh, David H., Williams, Hywel J., Dwyer, Sarah, Gormley, Padhraig, Georgieva, Lyudmila, Rees, Elliott, Palta, Priit, Ruderfer, Douglas M., Carrera, Noa, Humphreys, Isla, Johnson, Jessica S., Roussos, Panos, Barker, Douglas D., Banks, Eric, Milanova, Vihra, Grant, Seth G., Hannon, Eilis, Rose, Samuel A., Chambert, Kimberly, Mahajan, Milind, Scolnick, Edward M., Moran, Jennifer L., Kirov, George, Palotie, Aarno, McCarroll, Steven A., Holmans, Peter, Sklar, Pamela, Owen, Michael J., Purcell, Shaun M., O’Donovan, Michael C.
Published in Nature (London) (13.02.2014)
Published in Nature (London) (13.02.2014)
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Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
Genovese, Giulio, Kähler, Anna K, Handsaker, Robert E, Lindberg, Johan, Rose, Samuel A, Bakhoum, Samuel F, Chambert, Kimberly, Mick, Eran, Neale, Benjamin M, Fromer, Menachem, Purcell, Shaun M, Svantesson, Oscar, Landén, Mikael, Höglund, Martin, Lehmann, Sören, Gabriel, Stacey B, Moran, Jennifer L, Lander, Eric S, Sullivan, Patrick F, Sklar, Pamela, Grönberg, Henrik, Hultman, Christina M, McCarroll, Steven A
Published in The New England journal of medicine (25.12.2014)
Published in The New England journal of medicine (25.12.2014)
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Synaptic, transcriptional and chromatin genes disrupted in autism
De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Ercument Cicek, A., Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas G., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Sean Hill, R., Ionita-Laza, Iuliana, Jimenez Gonzalez, Patricia, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma’ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Jeremy Willsey, A., Yu, Timothy W., Yuen, Ryan K. C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.
Published in Nature (London) (13.11.2014)
Published in Nature (London) (13.11.2014)
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Synergistic effects of common schizophrenia risk variants
Schrode, Nadine, Ho, Seok-Man, Yamamuro, Kazuhiko, Dobbyn, Amanda, Huckins, Laura, Matos, Marliette R., Cheng, Esther, Deans, P. J. Michael, Flaherty, Erin, Barretto, Natalie, Topol, Aaron, Alganem, Khaled, Abadali, Sonya, Gregory, James, Hoelzli, Emily, Phatnani, Hemali, Singh, Vineeta, Girish, Deeptha, Aronow, Bruce, Mccullumsmith, Robert, Hoffman, Gabriel E., Stahl, Eli A., Morishita, Hirofumi, Sklar, Pamela, Brennand, Kristen J.
Published in Nature genetics (01.10.2019)
Published in Nature genetics (01.10.2019)
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Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains
Hoffman, Gabriel E., Hartley, Brigham J., Flaherty, Erin, Ladran, Ian, Gochman, Peter, Ruderfer, Douglas M., Stahl, Eli A., Rapoport, Judith, Sklar, Pamela, Brennand, Kristen J.
Published in Nature communications (20.12.2017)
Published in Nature communications (20.12.2017)
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Genome-wide association analysis identifies 13 new risk loci for schizophrenia
Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer L, Kähler, Anna K, Akterin, Susanne, Bergen, Sarah E, Collins, Ann L, Crowley, James J, Fromer, Menachem, Kim, Yunjung, Lee, Sang Hong, Magnusson, Patrik K E, Sanchez, Nick, Stahl, Eli A, Williams, Stephanie, Wray, Naomi R, Xia, Kai, Bettella, Francesco, Borglum, Anders D, Bulik-Sullivan, Brendan K, Cormican, Paul, Craddock, Nick, de Leeuw, Christiaan, Durmishi, Naser, Gill, Michael, Golimbet, Vera, Hamshere, Marian L, Holmans, Peter, Hougaard, David M, Kendler, Kenneth S, Lin, Kuang, Morris, Derek W, Mors, Ole, Mortensen, Preben B, Neale, Benjamin M, O'Neill, Francis A, Owen, Michael J, Milovancevic, Milica Pejovic, Posthuma, Danielle, Powell, John, Richards, Alexander L, Riley, Brien P, Ruderfer, Douglas, Rujescu, Dan, Sigurdsson, Engilbert, Silagadze, Teimuraz, Smit, August B, Stefansson, Hreinn, Steinberg, Stacy, Suvisaari, Jaana, Tosato, Sarah, Verhage, Matthijs, Walters, James T, Bramon, Elvira, Corvin, Aiden P, O'Donovan, Michael C, Stefansson, Kari, Scolnick, Edward, Purcell, Shaun, McCarroll, Steven A, Sklar, Pamela, Hultman, Christina M, Sullivan, Patrick F
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
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Quantifying prion disease penetrance using large population control cohorts
Minikel, Eric Vallabh, Vallabh, Sonia M, Lek, Monkol, Estrada, Karol, Samocha, Kaitlin E, Sathirapongsasuti, J Fah, McLean, Cory Y, Tung, Joyce Y, Yu, Linda P C, Gambetti, Pierluigi, Blevins, Janis, Zhang, Shulin, Cohen, Yvonne, Chen, Wei, Yamada, Masahito, Hamaguchi, Tsuyoshi, Sanjo, Nobuo, Mizusawa, Hidehiro, Nakamura, Yosikazu, Kitamoto, Tetsuyuki, Collins, Steven J, Boyd, Alison, Will, Robert G, Knight, Richard, Ponto, Claudia, Zerr, Inga, Kraus, Theo F J, Eigenbrod, Sabina, Giese, Armin, Calero, Miguel, de Pedro-Cuesta, Jesús, Haïk, Stéphane, Laplanche, Jean-Louis, Bouaziz-Amar, Elodie, Brandel, Jean-Philippe, Capellari, Sabina, Parchi, Piero, Poleggi, Anna, Ladogana, Anna, O'Donnell-Luria, Anne H, Karczewski, Konrad J, Marshall, Jamie L, Boehnke, Michael, Laakso, Markku, Mohlke, Karen L, Kähler, Anna, Chambert, Kimberly, McCarroll, Steven, Sullivan, Patrick F, Hultman, Christina M, Purcell, Shaun M, Sklar, Pamela, van der Lee, Sven J, Rozemuller, Annemieke, Jansen, Casper, Hofman, Albert, Kraaij, Robert, van Rooij, Jeroen G J, Ikram, M Arfan, Uitterlinden, André G, van Duijn, Cornelia M, Daly, Mark J, MacArthur, Daniel G
Published in Science translational medicine (20.01.2016)
Published in Science translational medicine (20.01.2016)
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Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia
Bryois, Julien, Garrett, Melanie E., Song, Lingyun, Safi, Alexias, Giusti-Rodriguez, Paola, Johnson, Graham D., Shieh, Annie W., Buil, Alfonso, Fullard, John F., Roussos, Panos, Sklar, Pamela, Akbarian, Schahram, Haroutunian, Vahram, Stockmeier, Craig A., Wray, Gregory A., White, Kevin P., Liu, Chunyu, Reddy, Timothy E., Ashley-Koch, Allison, Sullivan, Patrick F., Crawford, Gregory E.
Published in Nature communications (07.08.2018)
Published in Nature communications (07.08.2018)
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Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry
Bigdeli, Tim B., Genovese, Giulio, Georgakopoulos, Penelope, Meyers, Jacquelyn L., Peterson, Roseann E., Iyegbe, Conrad O., Medeiros, Helena, Valderrama, Jorge, Achtyes, Eric D., Kotov, Roman, Stahl, Eli A., Abbott, Colony, Azevedo, Maria Helena, Belliveau, Richard A., Bevilacqua, Elizabeth, Bromet, Evelyn J., Byerley, William, Carvalho, Celia Barreto, Chapman, Sinéad B., DeLisi, Lynn E., Dumont, Ashley L., O’Dushlaine, Colm, Evgrafov, Oleg V., Fochtmann, Laura J., Gage, Diane, Kennedy, James L., Kinkead, Becky, Macedo, Antonio, Moran, Jennifer L., Morley, Christopher P., Dewan, Mantosh J., Nemesh, James, Perkins, Diana O., Purcell, Shaun M., Rakofsky, Jeffrey J., Scolnick, Edward M., Sklar, Brooke M., Sklar, Pamela, Smoller, Jordan W., Sullivan, Patrick F., Macciardi, Fabio, Marder, Stephen R., Gur, Ruben C., Gur, Raquel E., Braff, David L., Nicolini, Humberto, Escamilla, Michael A., Vawter, Marquis P., Sobell, Janet L., Malaspina, Dolores, Lehrer, Douglas S., Buckley, Peter F., Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., Pato, Michele T., McCarroll, Steven A., Pato, Carlos N.
Published in Molecular psychiatry (01.10.2020)
Published in Molecular psychiatry (01.10.2020)
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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
FROMER, Menachem, MORAN, Jennifer L, KIROV, George, SULLIVAN, Patrick F, HULTMAN, Christina M, SKLAR, Pamela, PURCELL, Shaun M, CHAMBERT, Kimberly, BANKS, Eric, BERGEN, Sarah E, RUDERFER, DouglasM, HANDSAKER, Robert E, MCCARROLL, Steven A, O'DONOVAN, Michael C, OWEN, Michael J
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Cell-specific histone modification maps in the human frontal lobe link schizophrenia risk to the neuronal epigenome
Girdhar, Kiran, Hoffman, Gabriel E., Jiang, Yan, Brown, Leanne, Kundakovic, Marija, Hauberg, Mads E., Francoeur, Nancy J., Wang, Ying-chih, Shah, Hardik, Kavanagh, David H., Zharovsky, Elizabeth, Jacobov, Rivka, Wiseman, Jennifer R., Park, Royce, Johnson, Jessica S., Kassim, Bibi S., Sloofman, Laura, Mattei, Eugenio, Weng, Zhiping, Sieberts, Solveig K., Peters, Mette A., Harris, Brent T., Lipska, Barbara K., Sklar, Pamela, Roussos, Panos, Akbarian, Schahram
Published in Nature neuroscience (01.08.2018)
Published in Nature neuroscience (01.08.2018)
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Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate
Andreassen, Ole A, Thompson, Wesley K, Schork, Andrew J, Ripke, Stephan, Mattingsdal, Morten, Kelsoe, John R, Kendler, Kenneth S, O'Donovan, Michael C, Rujescu, Dan, Werge, Thomas, Sklar, Pamela, Roddey, J Cooper, Chen, Chi-Hua, McEvoy, Linda, Desikan, Rahul S, Djurovic, Srdjan, Dale, Anders M
Published in PLoS genetics (01.04.2013)
Published in PLoS genetics (01.04.2013)
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Exome sequencing and the genetic basis of complex traits
Kiezun, Adam, Garimella, Kiran, Do, Ron, Stitziel, Nathan O, Neale, Benjamin M, McLaren, Paul J, Gupta, Namrata, Sklar, Pamela, Sullivan, Patrick F, Moran, Jennifer L, Hultman, Christina M, Lichtenstein, Paul, Magnusson, Patrik, Lehner, Thomas, Shugart, Yin Yao, Price, Alkes L, de Bakker, Paul I W, Purcell, Shaun M, Sunyaev, Shamil R
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Expression-based drug screening of neural progenitor cells from individuals with schizophrenia
Readhead, Benjamin, Hartley, Brigham J., Eastwood, Brian J., Collier, David A., Evans, David, Farias, Richard, He, Ching, Hoffman, Gabriel, Sklar, Pamela, Dudley, Joel T., Schadt, Eric E., Savić, Radoslav, Brennand, Kristen J.
Published in Nature communications (24.10.2018)
Published in Nature communications (24.10.2018)
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