Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains

por 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.
Publicado 2017

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

por Nguyen, Tan-Hoang, Dobbyn, Amanda, Brown, Ruth C., Riley, Brien P., Buxbaum, Joseph D., Pinto, Dalila, Purcell, Shaun M., Sullivan, Patrick F., He, Xin, Stahl, Eli A.
Publicado 2020

Improving genetic prediction by leveraging genetic correlations among human diseases and traits

por Maier, Robert M., Zhu, Zhihong, Lee, Sang Hong, Trzaskowski, Maciej, Ruderfer, Douglas M., Stahl, Eli A., Ripke, Stephan, Wray, Naomi R., Yang, Jian, Visscher, Peter M., Robinson, Matthew R.
Publicado 2018

Quantifying Missing Heritability at Known GWAS Loci

por Gusev, Alexander, Bhatia, Gaurav, Zaitlen, Noah, Vilhjalmsson, Bjarni J., Diogo, Dorothée, Stahl, Eli A., Gregersen, Peter K., Worthington, Jane, Klareskog, Lars, Raychaudhuri, Soumya, Plenge, Robert M., Pasaniuc, Bogdan, Price, Alkes L.
Publicado 2013

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

por Genovese, Giulio, Fromer, Menachem, Stahl, Eli A., Ruderfer, Douglas M., Chambert, Kimberly, Landén, Mikael, Moran, Jennifer L., Purcell, Shaun M., Sklar, Pamela, Sullivan, Patrick F., Hultman, Christina M., McCarroll, Steven A.
Publicado 2016

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis

por Raychaudhuri, Soumya, Sandor, Cynthia, Stahl, Eli A., Freudenberg, Jan, Lee, Hye-Soon, Jia, Xiaoming, Alfredsson, Lars, Padyukov, Leonid, Klareskog, Lars, Worthington, Jane, Siminovitch, Katherine A., Bae, Sang-Cheol, Plenge, Robert M., Gregersen, Peter K., de Bakker, Paul I.W.
Publicado 2012

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

por Barbeira, Alvaro N., Dickinson, Scott P., Bonazzola, Rodrigo, Zheng, Jiamao, Wheeler, Heather E., Torres, Jason M., Torstenson, Eric S., Shah, Kaanan P., Garcia, Tzintzuni, Edwards, Todd L., Stahl, Eli A., Huckins, Laura M., Nicolae, Dan L., Cox, Nancy J., Im, Hae Kyung
Publicado 2018

Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records

por Chen, Chia-Yen, Lee, Phil H., Castro, Victor M., Minnier, Jessica, Charney, Alexander W., Stahl, Eli A., Ruderfer, Douglas M., Murphy, Shawn N., Gainer, Vivian, Cai, Tianxi, Jones, Ian, Pato, Carlos N., Pato, Michele T., Landén, Mikael, Sklar, Pamela, Perlis, Roy H., Smoller, Jordan W.
Publicado 2018

ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers

por Gelfman, Sahar, Monnet, Dominique, Ligocki, Ann J., Tabary, Thierry, Moscati, Arden, Bai, Xiaodong, Freudenberg, Jan, Cooper, Blerta, Kosmicki, Jack A., Wolf, Sarah, Ferreira, Manuel A. R., Overton, John, Weyne, Jonathan, Stahl, Eli A., Baras, Aris, Romano, Carmelo, Cohen, Jacques H. M., Coppola, Giovanni, Brézin, Antoine
Publicado 2021

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS

por Dobbyn, Amanda, Huckins, Laura M., Boocock, James, Sloofman, Laura G., Glicksberg, Benjamin S., Giambartolomei, Claudia, Hoffman, Gabriel E., Perumal, Thanneer M., Girdhar, Kiran, Jiang, Yan, Raj, Towfique, Ruderfer, Douglas M., Kramer, Robin S., Pinto, Dalila, Akbarian, Schahram, Roussos, Panos, Domenici, Enrico, Devlin, Bernie, Sklar, Pamela, Stahl, Eli A., Sieberts, Solveig K.
Publicado 2018

A large meta-analysis identifies genes associated with anterior uveitis

por Gelfman, Sahar, Moscati, Arden, Huergo, Santiago Mendez, Wang, Rujin, Rajagopal, Veera, Parikshak, Neelroop, Pounraja, Vijay Kumar, Chen, Esteban, Leblanc, Michelle, Hazlewood, Ralph, Freudenberg, Jan, Cooper, Blerta, Ligocki, Ann J., Miller, Charles G., Van Zyl, Tavé, Weyne, Jonathan, Romano, Carmelo, Sagdullaev, Botir, Melander, Olle, Baras, Aris, Stahl, Eli A., Coppola, Giovanni
Publicado 2023

Crowdsourcing genetic prediction of clinical utility in the Rheumatoid Arthritis Responder Challenge

por Plenge, Robert M., Greenberg, Jeffrey D., Mangravite, Lara M., Derry, Jonathan M. J., Stahl, Eli A., Coenen, Marieke J. H., Barton, Anne, Padyukov, Leonid, Klareskog, Lars, Gregersen, Peter K., Mariette, Xavier, Moreland, Larry W., Bridges, S Louis, de Vries, Niek, Huizinga, Tom W. J., Guchelaar, Henk-Jan, Friend, Stephen H., Stolovitzky, Gustavo
Publicado 2013

Polygenic Inheritance of Paclitaxel-Induced Sensory Peripheral Neuropathy Driven by Axon Outgrowth Gene Sets in CALGB 40101 (Alliance)

por Chhibber, Aparna, Mefford, Joel, Stahl, Eli A., Pendergrass, Sarah A., Baldwin, R. Michael, Owzar, Kouros, Li, Megan, Winer, Eric P., Hudis, Clifford A., Zembutsu, Hitoshi, Kubo, Michiaki, Nakamura, Yusuke, McLeod, Howard L., Ratain, Mark J., Shulman, Lawrence N., Ritchie, Marylyn D., Plenge, Robert M., Witte, John S., Kroetz, Deanna L.
Publicado 2014

The Toll-Like Receptor 4 (TLR4) Variant rs2149356 and Risk of Gout in European and Polynesian Sample Sets

por Rasheed, Humaira, McKinney, Cushla, Stamp, Lisa K., Dalbeth, Nicola, Topless, Ruth K., Day, Richard, Kannangara, Diluk, Williams, Kenneth, Smith, Malcolm, Janssen, Matthijs, Jansen, Tim L., Joosten, Leo A., Radstake, Timothy R., Riches, Philip L., Tausche, Anne-Kathrin, Lioté, Frederic, Lu, Leo, Stahl, Eli A., Choi, Hyon K., So, Alexander, Merriman, Tony R.
Publicado 2016

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

por Nguyen, Hoang T., Bryois, Julien, Kim, April, Dobbyn, Amanda, Huckins, Laura M., Munoz-Manchado, Ana B., Ruderfer, Douglas M., Genovese, Giulio, Fromer, Menachem, Xu, Xinyi, Pinto, Dalila, Linnarsson, Sten, Verhage, Matthijs, Smit, August B., Hjerling-Leffler, Jens, Buxbaum, Joseph D., Hultman, Christina, Sklar, Pamela, Purcell, Shaun M., Lage, Kasper, He, Xin, Sullivan, Patrick F., Stahl, Eli A.
Publicado 2017

Synergistic effects of common schizophrenia risk variants

por 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.
Publicado 2019

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

por Praveen, Kavita, Dobbyn, Lee, Gurski, Lauren, Ayer, Ariane H., Staples, Jeffrey, Mishra, Shawn, Bai, Yu, Kaufman, Alexandra, Moscati, Arden, Benner, Christian, Chen, Esteban, Chen, Siying, Popov, Alexander, Smith, Janell, Melander, Olle, Jones, Marcus B., Marchini, Jonathan, Balasubramanian, Suganthi, Zambrowicz, Brian, Drummond, Meghan C., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A., Stahl, Eli A., Coppola, Giovanni
Publicado 2022

Rare protein‐coding variants implicate genes involved in risk of suicide death

por DiBlasi, Emily, Shabalin, Andrey A., Monson, Eric T., Keeshin, Brooks R., Bakian, Amanda V., Kirby, Anne V., Ferris, Elliott, Chen, Danli, William, Nancy, Gaj, Eoin, Klein, Michael, Jerominski, Leslie, Callor, W. Brandon, Christensen, Erik, Smith, Ken R., Fraser, Alison, Yu, Zhe, Gray, Douglas, Camp, Nicola J., Stahl, Eli A., Li, Qingqin S., Docherty, Anna R., Coon, Hilary
Publicado 2021

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

por Baillie, J. Kenneth, Bretherick, Andrew, Haley, Christopher S., Clohisey, Sara, Gray, Alan, Neyton, Lucile P. A., Barrett, Jeffrey, Stahl, Eli A., Tenesa, Albert, Andersson, Robin, Brown, J. Ben, Faulkner, Geoffrey J., Lizio, Marina, Schaefer, Ulf, Daub, Carsten, Itoh, Masayoshi, Kondo, Naoto, Lassmann, Timo, Kawai, Jun, Mole, Damian, Bajic, Vladimir B., Heutink, Peter, Rehli, Michael, Kawaji, Hideya, Sandelin, Albin, Suzuki, Harukazu, Satsangi, Jack, Wells, Christine A., Hacohen, Nir, Freeman, Thomas C., Hayashizaki, Yoshihide, Carninci, Piero, Forrest, Alistair R. R., Hume, David A.
Publicado 2018

Rare coding variants in CHRNB2 reduce the likelihood of smoking

por Rajagopal, Veera M., Watanabe, Kyoko, Mbatchou, Joelle, Ayer, Ariane, Quon, Peter, Sharma, Deepika, Kessler, Michael D., Praveen, Kavita, Gelfman, Sahar, Parikshak, Neelroop, Otto, Jacqueline M., Bao, Suying, Chim, Shek Man, Pavlopoulos, Elias, Avbersek, Andreja, Kapoor, Manav, Chen, Esteban, Jones, Marcus B., Leblanc, Michelle, Emberson, Jonathan, Collins, Rory, Torres, Jason, Morales, Pablo Kuri, Tapia-Conyer, Roberto, Alegre, Jesus, Berumen, Jaime, Shuldiner, Alan R., Balasubramanian, Suganthi, Abecasis, Gonçalo R., Kang, Hyun M., Marchini, Jonathan, Stahl, Eli A., Jorgenson, Eric, Sanchez, Robert, Liedtke, Wolfgang, Anderson, Matthew, Cantor, Michael, Lederer, David, Baras, Aris, Coppola, Giovanni
Publicado 2023