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Genotype first: Clinical genomics research through a reverse phenotyping approach Wilczewski, Caralynn M.; Obasohan, Justice; Paschall, Justin E.; Zhang, Suiyuan; Singh, Sumeeta; Maxwell, George L.; Similuk, Morgan; Wolfsberg, Tyra G.; Turner, Clesson; Biesecker, Leslie G.; Katz, Alexander E. 分享 收藏
HLA-associated outcomes in peanut oral immunotherapy trials identify mechanistic and clinical determinants of therapeutic success Kanchan, Kanika; Shankar, Gautam; Huffaker, Michelle F. F.; Bahnson, Henry T. T.; Chinthrajah, R. Sharon; Sanda, Srinath; Manohar, Monali; Ling, Hua; Paschall, Justin E. E.; Toit, George Du; Ruczinski, Ingo; Togias, Alkis; Lack, Gideon; Nadeau, Kari C. C.; Jones, Stacie M. M.; Nepom, Gerald T. T.; Mathias, Rasika A. A. 分享 收藏
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Discovering and linking public omics data sets using the Omics Discovery Index Perez-Riverol, Yasset; Bai, Mingze; Leprevost, Felipe da Veiga; Squizzato, Silvano; Park, Young Mi; Haug, Kenneth; Carroll, Adam J.; Spalding, Dylan; Paschall, Justin; Wang, Mingxun; del-Toro, Noemi; Ternent, Tobias; Zhang, Peng; Buso, Nicola; Bandeira, Nuno; Deutsch, Eric W.; Campbell, David S.; Beavis, Ronald C.; Salek, Reza M.; Sarkans, Ugis; Petryszak, Robert; Keays, Maria; Fahy, Eoin; Sud, Manish; Subramaniam, Shankar; Barbera, Ariana; Jimenez, Rafael C.; Nesvizhskii, Alexey I.; Sansone, Susanna-Assunta; Steinbeck, Christoph; Lopez, Rodrigo; Vizcaino, Juan A.; Ping, Peipei; Hermjakob, Henning 分享 收藏
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases Boycott, Kym M.; Rath, Ana; Chong, Jessica X.; Hartley, Taila; Alkuraya, Fowzan S.; Baynam, Gareth; Brookes, Anthony J.; Brudno, Michael; Carracedo, Angel; den Dunnen, Johan T.; Dyke, Stephanie O. M.; Estivill, Xavier; Goldblatt, Jack; Gonthier, Catherine; Groft, Stephen C.; Gut, Ivo; Hamosh, Ada; Hieter, Philip; Hoehn, Sophie; Hurles, Matthew E.; Kaufmann, Petra; Knoppers, Bartha M.; Krischer, Jeffrey P.; Macek, Milan, Jr.; Matthijs, Gert; Olry, Annie; Parker, Samantha; Paschall, Justin; Philippakis, Anthony A.; Rehm, Heidi L.; Robinson, Peter N.; Sham, Pak-Chung; Stefanov, Rumen; Taruscio, Domenica; Unni, Divya; Vanstone, Megan R.; Zhang, Feng; Brunner, Han; Bamshad, Michael J.; Lochmueller, Hanns 分享 收藏
Open Targets: a platform for therapeutic target identification and validation Koscielny, Gautier; An, Peter; Carvalho-Silva, Denise; Cham, Jennifer A.; Fumis, Luca; Gasparyan, Rippa; Hasan, Samiul; Karamanis, Nikiforos; Maguire, Michael; Papa, Eliseo; Pierleoni, Andrea; Pignatelli, Miguel; Platt, Theo; Rowland, Francis; Wankar, Priyanka; Bento, A. Patricia; Burdett, Tony; Fabregat, Antonio; Forbes, Simon; Gaulton, Anna; Gonzalez, Cristina Yenyxe; Hermjakob, Henning; Hersey, Anne; Jupe, Steven; Kafkas, Senay; Keays, Maria; Leroy, Catherine; Lopez, Francisco-Javier; Magarinos, Maria Paula; Malone, James; McEntyre, Johanna; Fuentes, Alfonso Munoz-Pomer; O'Donovan, Claire; Papatheodorou, Irene; Parkinson, Helen; Palka, Barbara; Paschall, Justin; Petryszak, Robert; Pratanwanich, Naruemon; Sarntivijal, Sirarat; Saunders, Gary; Sidiropoulos, Konstantinos; Smith, Thomas; Sondka, Zbyslaw; Stegle, Oliver; Tang, Amy; Turner, Edward; Vaughan, Brendan; Vrousgou, Olga; Watkins, Xavier; Martin, Maria-Jesus; Sanseau, Philippe; Vamathevan, Jessica; Birney, Ewan; Barrett, Jeffrey; Dunham, Ian 分享 收藏
Highly sensitive and ultrafast read mapping for RNA-seq analysis Medina, I.; Tarraga, J.; Martinez, H.; Barrachina, S.; Castillo, M. I.; Paschall, J.; Salavert-Torres, J.; Blanquer-Espert, I.; Hernandez-Garcia, V.; Quintana-Orti, E. S.; Dopazo, J. 分享 收藏
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O. M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A.; Hamosh, Ada; Holm, Ingrid A.; Huang, Lijia; Hurles, Matthew E.; Hutton, Ben; Krier, Joel B.; Misyura, Andriy; Mungall, Christopher J.; Paschall, Justin; Paten, Benedict; Robinson, Peter N.; Schiettecatte, Francois; Sobreira, Nara L.; Swaminathan, Ganesh J.; Taschner, Peter E.; Terry, Sharon F.; Washington, Nicole L.; Zuechner, Stephan; Boycott, Kym M.; Rehm, Heidi L. 分享 收藏
The European Genome-phenome Archive of human data consented for biomedical research Lappalainen, Ilkka; Almeida-King, Jeff; Kumanduri, Vasudev; Senf, Alexander; Spalding, John Dylan; Ur-Rehman, Saif; Saunders, Gary; Kandasamy, Jag; Caccamo, Mario; Leinonen, Rasko; Vaughan, Brendan; Laurent, Thomas; Rowland, Francis; Marin-Garcia, Pablo; Barker, Jonathan; Jokinen, Petteri; Torres, Angel Carreno; de Argila, Jordi Rambla; Llobet, Oscar Martinez; Medina, Ignacio; Puy, Marc Sitges; Alberich, Mario; de la Torre, Sabela; Navarro, Arcadi; Paschall, Justin; Flicek, Paul 分享 收藏
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research RD-Connect: 一个连接数据库，注册表，生物库和临床生物信息学的集成平台，用于罕见疾病研究 Thompson, Rachel; Johnston, Louise; Taruscio, Domenica; Monaco, Lucia; Beroud, Christophe; Gut, Ivo G.; Hansson, Mats G.; 't Hoen, Peter-Bram A.; Patrinos, George P.; Dawkins, Hugh; Ensini, Monica; Zatloukal, Kurt; Koubi, David; Heslop, Emma; Paschall, Justin E.; Posada, Manuel; Robinson, Peter N.; Bushby, Kate; Lochmueller, Hanns 分享 收藏
dbVar and DGVa: public archives for genomic structural variation Lappalainen, Ilkka; Lopez, John; Skipper, Lisa; Hefferon, Timothy; Spalding, J. Dylan; Garner, John; Chen, Chao; Maguire, Michael; Corbett, Matt; Zhou, George; Paschall, Justin; Ananiev, Victor; Flicek, Paul; Church, Deanna M. 分享 收藏
Assessing and managing risk when sharing aggregate genetic variant data (vol 12, pg 730, 2011) Craig, David W.; Goor, Robert M.; Wang, Zhenyuan; Paschall, Justin; Ostell, Jim; Feolo, Michael; Sherry, Stephen T.; Manolio, Teri A. 分享 收藏
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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities Kaminsky, Erin B.; Kaul, Vineith; Paschall, Justin; Church, Deanna M.; Bunke, Brian; Kunig, Dawn; Moreno-De-Luca, Daniel; Moreno-De-Luca, Andres; Mulle, Jennifer G.; Warren, Stephen T.; Richard, Gabriele; Compton, John G.; Fuller, Amy E.; Gliem, Troy J.; Huang, Shuwen; Collinson, Morag N.; Beal, Sarah J.; Ackley, Todd; Pickering, Diane L.; Golden, Denae M.; Aston, Emily; Whitby, Heidi; Shetty, Shashirekha; Rossi, Michael R.; Rudd, M. Katharine; South, Sarah T.; Brothman, Arthur R.; Sanger, Warren G.; Iyer, Ramaswamy K.; Crolla, John A.; Thorland, Erik C.; Aradhya, Swaroop; Ledbetter, David H.; Martin, Christa L. 分享 收藏
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease Hamza, Taye H.; Zabetian, Cyrus P.; Tenesa, Albert; Laederach, Alain; Montimurro, Jennifer; Yearout, Dora; Kay, Denise M.; Doheny, Kimberly F.; Paschall, Justin; Pugh, Elizabeth; Kusel, Victoria I.; Collura, Randall; Roberts, John; Griffith, Alida; Samii, Ali; Scott, William K.; Nutt, John; Factor, Stewart A.; Payami, Haydeh 分享 收藏
Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women Koller, Daniel L.; Ichikawa, Shoji; Lai, Dongbing; Padgett, Leah R.; Doheny, Kimberly F.; Pugh, Elizabeth; Paschall, Justin; Hui, Siu L.; Edenberg, Howard J.; Xuei, Xiaoling; Peacock, Munro; Econs, Michael J.; Foroud, Tatiana 分享 收藏
Genome-wide association study of bipolar disorder in European American and African American individuals Smith, E. N.; Bloss, C. S.; Badner, J. A.; Barrett, T.; Belmonte, P. L.; Berrettini, W.; Byerley, W.; Coryell, W.; Craig, D.; Edenberg, H. J.; Eskin, E.; Foroud, T.; Gershon, E.; Greenwood, T. A.; Hipolito, M.; Koller, D. L.; Lawson, W. B.; Liu, C.; Lohoff, F.; McInnis, M. G.; McMahon, F. J.; Mirel, D. B.; Murray, S. S.; Nievergelt, C.; Nurnberger, J.; Nwulia, E. A.; Paschall, J.; Potash, J. B.; Rice, J.; Schulze, T. G.; Scheftner, W.; Panganiban, C.; Zaitlen, N.; Zandi, P. P.; Zoellner, S.; Schork, N. J.; Kelsoe, J. R. 分享 收藏
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The NCBI dbGaP database of genotypes and phenotypes Mailman, Matthew D.; Feolo, Michael; Jin, Yumi; Kimura, Masato; Tryka, Kimberly; Bagoutdinov, Rinat; Hao, Luning; Kiang, Anne; Paschall, Justin; Phan, Lon; Popova, Natalia; Pretel, Stephanie; Ziyabari, Lora; Lee, Moira; Shao, Yu; Wang, Zhen Y.; Sirotkin, Karl; Ward, Minghong; Kholodov, Michael; Zbicz, Kerry; Beck, Jeffrey; Kimelman, Michael; Shevelev, Sergey; Preuss, Don; Yaschenko, Eugene; Graeff, Alan; Ostell, James; Sherry, Stephen T. 分享 收藏
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