Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility

por Won, Hyejung, Huang, Jerry, Opland, Carli K., Hartl, Chris L., Geschwind, Daniel H.
Publicado 2019

The functional spectrum of low-frequency coding variation

por Marth, Gabor T, Yu, Fuli, Indap, Amit R, Garimella, Kiran, Gravel, Simon, Leong, Wen Fung, Tyler-Smith, Chris, Bainbridge, Matthew, Blackwell, Tom, Zheng-Bradley, Xiangqun, Chen, Yuan, Challis, Danny, Clarke, Laura, Ball, Edward V, Cibulskis, Kristian, Cooper, David N, Fulton, Bob, Hartl, Chris, Koboldt, Dan, Muzny, Donna, Smith, Richard, Sougnez, Carrie, Stewart, Chip, Ward, Alistair, Yu, Jin, Xue, Yali, Altshuler, David, Bustamante, Carlos D, Clark, Andrew G, Daly, Mark, DePristo, Mark, Flicek, Paul, Gabriel, Stacey, Mardis, Elaine, Palotie, Aarno, Gibbs, Richard
Publicado 2011

A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes

por Mercader, Josep M., Liao, Rachel G., Bell, Avery D., Dymek, Zachary, Estrada, Karol, Tukiainen, Taru, Huerta-Chagoya, Alicia, Moreno-Macías, Hortensia, Jablonski, Kathleen A., Hanson, Robert L., Walford, Geoffrey A., Moran, Ignasi, Chen, Ling, Agarwala, Vineeta, Ordoñez-Sánchez, María Luisa, Rodríguez-Guillen, Rosario, Rodríguez-Torres, Maribel, Segura-Kato, Yayoi, García-Ortiz, Humberto, Centeno-Cruz, Federico, Barajas-Olmos, Francisco, Caulkins, Lizz, Puppala, Sobha, Fontanillas, Pierre, Williams, Amy L., Bonàs-Guarch, Sílvia, Hartl, Chris, Ripke, Stephan, Tooley, Katherine, Lane, Jacqueline, Zerrweck, Carlos, Martínez-Hernández, Angélica, Córdova, Emilio J., Mendoza-Caamal, Elvia, Contreras-Cubas, Cecilia, González-Villalpando, María E., Cruz-Bautista, Ivette, Muñoz-Hernández, Liliana, Gómez-Velasco, Donaji, Alvirde, Ulises, Henderson, Brian E., Wilkens, Lynne R., Le Marchand, Loic, Arellano-Campos, Olimpia, Riba, Laura, Harden, Maegan, Gabriel, Stacey, Abboud, Hanna E., Cortes, Maria L., Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Soberon, Xavier, Curran, Joanne E., Jenkinson, Christopher P., DeFronzo, Ralph A., Lehman, Donna M., Hanis, Craig L., Bell, Graeme I., Boehnke, Michael, Blangero, John, Duggirala, Ravindranath, Saxena, Richa, MacArthur, Daniel, Ferrer, Jorge, McCarroll, Steven A., Torrents, David, Knowler, William C., Baier, Leslie J., Burtt, Noel, González-Villalpando, Clicerio, Haiman, Christopher A., Aguilar-Salinas, Carlos A., Tusié-Luna, Teresa, Flannick, Jason, Jacobs, Suzanne B.R., Orozco, Lorena, Altshuler, David, Florez, Jose C.
Publicado 2017