Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function

door Hu, Ming, Kim, Innah, Morán, Ignasi, Peng, Weicong, Sun, Orien, Bonnefond, Amélie, Khamis, Amna, Bonas-Guarch, Silvia, Froguel, Philippe, Rutter, Guy A.
Gepubliceerd in 2023

Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis

door Udler, Miriam S., Kim, Jaegil, von Grotthuss, Marcin, Bonàs-Guarch, Sílvia, Cole, Joanne B., Chiou, Joshua, Boehnke, Michael, Laakso, Markku, Atzmon, Gil, Glaser, Benjamin, Mercader, Josep M., Gaulton, Kyle, Flannick, Jason, Getz, Gad, Florez, Jose C.
Gepubliceerd in 2018

Identification of Novel Type 2 Diabetes Candidate Genes Involved in the Crosstalk between the Mitochondrial and the Insulin Signaling Systems

door Mercader, Josep M., Puiggros, Montserrat, Segrè, Ayellet V., Planet, Evarist, Sorianello, Eleonora, Sebastian, David, Rodriguez-Cuenca, Sergio, Ribas, Vicent, Bonàs-Guarch, Sílvia, Draghici, Sorin, Yang, Chenjing, Mora, Sílvia, Vidal-Puig, Antoni, Dupuis, Josée, Florez, Jose C., Zorzano, Antonio, Torrents, David
Gepubliceerd in 2012

CRISPR-based genome editing in primary human pancreatic islet cells

door Bevacqua, Romina J., Dai, Xiaoqing, Lam, Jonathan Y., Gu, Xueying, Friedlander, Mollie S. H., Tellez, Krissie, Miguel-Escalada, Irene, Bonàs-Guarch, Silvia, Atla, Goutham, Zhao, Weichen, Kim, Seung Hyun, Dominguez, Antonia A., Qi, Lei S., Ferrer, Jorge, MacDonald, Patrick E., Kim, Seung K.
Gepubliceerd in 2021

The impact of non-additive genetic associations on age-related complex diseases

door Guindo-Martínez, Marta, Amela, Ramon, Bonàs-Guarch, Silvia, Puiggròs, Montserrat, Salvoro, Cecilia, Miguel-Escalada, Irene, Carey, Caitlin E., Cole, Joanne B., Rüeger, Sina, Atkinson, Elizabeth, Leong, Aaron, Sanchez, Friman, Ramon-Cortes, Cristian, Ejarque, Jorge, Palmer, Duncan S., Kurki, Mitja, Aragam, Krishna, Florez, Jose C., Badia, Rosa M., Mercader, Josep M., Torrents, David
Gepubliceerd in 2021

Genetic regulation of RNA splicing in human pancreatic islets

door Atla, Goutham, Bonàs-Guarch, Silvia, Cuenca-Ardura, Mirabai, Beucher, Anthony, Crouch, Daniel J. M., Garcia-Hurtado, Javier, Moran, Ignasi, Irimia, Manuel, Prasad, Rashmi B., Gloyn, Anna L., Marselli, Lorella, Suleiman, Mara, Berney, Thierry, de Koning, Eelco J. P., Kerr-Conte, Julie, Pattou, Francois, Todd, John A., Piemonti, Lorenzo, Ferrer, Jorge
Gepubliceerd in 2022

Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus

door Julià, Antonio, López-Longo, Francisco Javier, Pérez Venegas, José J., Bonàs-Guarch, Silvia, Olivé, Àlex, Andreu, José Luís, Aguirre-Zamorano, Mª. Ángeles, Vela, Paloma, Nolla, Joan M., de la Fuente, José Luís Marenco, Zea, Antonio, Pego-Reigosa, José María, Freire, Mercedes, Díez, Elvira, Rodríguez-Almaraz, Esther, Carreira, Patricia, Blanco, Ricardo, Taboada, Víctor Martínez, López-Lasanta, María, Corbeto, Mireia López, Mercader, Josep M., Torrents, David, Absher, Devin, Marsal, Sara, Fernández-Nebro, Antonio
Gepubliceerd in 2018

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

door Alonso, Lorena, Piron, Anthony, Morán, Ignasi, Guindo-Martínez, Marta, Bonàs-Guarch, Sílvia, Atla, Goutham, Miguel-Escalada, Irene, Royo, Romina, Puiggròs, Montserrat, Garcia-Hurtado, Xavier, Suleiman, Mara, Marselli, Lorella, Esguerra, Jonathan L.S., Turatsinze, Jean-Valéry, Torres, Jason M., Nylander, Vibe, Chen, Ji, Eliasson, Lena, Defrance, Matthieu, Amela, Ramon, Mulder, Hindrik, Gloyn, Anna L., Groop, Leif, Marchetti, Piero, Eizirik, Decio L., Ferrer, Jorge, Mercader, Josep M., Cnop, Miriam, Torrents, David
Gepubliceerd in 2021

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

door Bonàs-Guarch, Sílvia, Guindo-Martínez, Marta, Miguel-Escalada, Irene, Grarup, Niels, Sebastian, David, Rodriguez-Fos, Elias, Sánchez, Friman, Planas-Fèlix, Mercè, Cortes-Sánchez, Paula, González, Santi, Timshel, Pascal, Pers, Tune H., Morgan, Claire C., Moran, Ignasi, Atla, Goutham, González, Juan R., Puiggros, Montserrat, Martí, Jonathan, Andersson, Ehm A., Díaz, Carlos, Badia, Rosa M., Udler, Miriam, Leong, Aaron, Kaur, Varindepal, Flannick, Jason, Jørgensen, Torben, Linneberg, Allan, Jørgensen, Marit E., Witte, Daniel R., Christensen, Cramer, Brandslund, Ivan, Appel, Emil V., Scott, Robert A., Luan, Jian’an, Langenberg, Claudia, Wareham, Nicholas J., Pedersen, Oluf, Zorzano, Antonio, Florez, Jose C, Hansen, Torben, Ferrer, Jorge, Mercader, Josep Maria, Torrents, David
Gepubliceerd in 2018

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

door Bonàs-Guarch, Sílvia, Guindo-Martínez, Marta, Miguel-Escalada, Irene, Grarup, Niels, Sebastian, David, Rodriguez-Fos, Elias, Sánchez, Friman, Planas-Fèlix, Mercè, Cortes-Sánchez, Paula, González, Santi, Timshel, Pascal, Pers, Tune H., Morgan, Claire C., Moran, Ignasi, Atla, Goutham, González, Juan R., Puiggros, Montserrat, Martí, Jonathan, Andersson, Ehm A., Díaz, Carlos, Badia, Rosa M., Udler, Miriam, Leong, Aaron, Kaur, Varindepal, Flannick, Jason, Jørgensen, Torben, Linneberg, Allan, Jørgensen, Marit E., Witte, Daniel R., Christensen, Cramer, Brandslund, Ivan, Appel, Emil V., Scott, Robert A., Luan, Jian’an, Langenberg, Claudia, Wareham, Nicholas J., Pedersen, Oluf, Zorzano, Antonio, Florez, Jose C, Hansen, Torben, Ferrer, Jorge, Mercader, Josep Maria, Torrents, David
Gepubliceerd in 2018

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

door 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.
Gepubliceerd in 2017