Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

por Javadiyan, Shari, Craig, Jamie E., Sharma, Shiwani, Lower, Karen M., Casey, Theresa, Haan, Eric, Souzeau, Emmanuelle, Burdon, Kathryn P.
Publicado 2017

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

por Hardcastle, Alison J., Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J., Davidson, Alice E., Inglehearn, Chris F., Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne E. M., Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E. Rojas, Khawaja, Anthony P., Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart T. H., Geerards, Annette J. M., Haudum, Christoph W., Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J., Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S., Krauss, Ronald M., Theusch, Elisabeth, Charlesworth, Jac C., Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A., Richardson, Andrea J., Mitchell, Paul A., Taylor, Kent D., Melles, Ronald B., Aldave, Anthony J., Mills, Richard A., Cao, Ke, Chan, Elsie, Daniell, Mark D., Wang, Jie Jin, Rotter, Jerome I., Hewitt, Alex W., MacGregor, Stuart, Klaver, Caroline C. W., Ramdas, Wishal D., Craig, Jamie E., Iyengar, Sudha K., O’Brart, David, Jorgenson, Eric, Baird, Paul N., Rabinowitz, Yaron S., Burdon, Kathryn P., Hammond, Chris J., Tuft, Stephen J., Hysi, Pirro G.
Publicado 2021

Impacts of detritivore diversity loss on instream decomposition are greatest in the tropics

por Boyero, Luz, López-Rojo, Naiara, Tonin, Alan M., Pérez, Javier, Correa-Araneda, Francisco, Pearson, Richard G., Bosch, Jaime, Albariño, Ricardo J., Anbalagan, Sankarappan, Barmuta, Leon A., Basaguren, Ana, Burdon, Francis J., Caliman, Adriano, Callisto, Marcos, Calor, Adolfo R., Campbell, Ian C., Cardinale, Bradley J., Jesús Casas, J., Chará-Serna, Ana M., Chauvet, Eric, Ciapała, Szymon, Colón-Gaud, Checo, Cornejo, Aydeé, Davis, Aaron M., Degebrodt, Monika, Dias, Emerson S., Díaz, María E., Douglas, Michael M., Encalada, Andrea C., Figueroa, Ricardo, Flecker, Alexander S., Fleituch, Tadeusz, García, Erica A., García, Gabriela, García, Pavel E., Gessner, Mark O., Gómez, Jesús E., Gómez, Sergio, Gonçalves, Jose F., Graça, Manuel A. S., Gwinn, Daniel C., Hall, Robert O., Hamada, Neusa, Hui, Cang, Imazawa, Daichi, Iwata, Tomoya, Kariuki, Samuel K., Landeira-Dabarca, Andrea, Laymon, Kelsey, Leal, María, Marchant, Richard, Martins, Renato T., Masese, Frank O., Maul, Megan, McKie, Brendan G., Medeiros, Adriana O., Erimba, Charles M. M’, Middleton, Jen A., Monroy, Silvia, Muotka, Timo, Negishi, Junjiro N., Ramírez, Alonso, Richardson, John S., Rincón, José, Rubio-Ríos, Juan, dos Santos, Gisele M., Sarremejane, Romain, Sheldon, Fran, Sitati, Augustine, Tenkiano, Nathalie S. D., Tiegs, Scott D., Tolod, Janine R., Venarsky, Michael, Watson, Anne, Yule, Catherine M.
Publicado 2021

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

por Law, Matthew H., Bishop, D. Timothy, Lee, Jeffrey E., Brossard, Myriam, Martin, Nicholas G., Moses, Eric K., Song, Fengju, Barrett, Jennifer H., Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D. P., Swerdlow, Anthony J., Kypreou, Katerina P., Taylor, John C., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, Duffy, David L., Elder, David E., Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A., Chen, Wei V., Landi, Maria Teresa, Lang, Julie, Lathrop, G. Mark, Lubiński, Jan, Mackie, Rona M., Mann, Graham J., Molven, Anders, Montgomery, Grant W., Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C., Craig, Jamie E., Schadendorf, Dirk, Simms, Lisa A., Burdon, Kathryn P., Nyholt, Dale R., Pooley, Karen A., Orr, Nick, Stratigos, Alexander J., Cust, Anne E., Ward, Sarah V., Hayward, Nicholas K., Han, Jiali, Schulze, Hans-Joachim, Dunning, Alison M., Bishop, Julia A. Newton, Demenais, Florence, Amos, Christopher I., MacGregor, Stuart, Iles, Mark M.
Publicado 2015

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma

por Cooke Bailey, Jessica N., Loomis, Stephanie J., Kang, Jae H., Allingham, R. Rand, Gharahkhani, Puya, Khor, Chiea Chuen, Burdon, Kathryn P., Aschard, Hugues, Chasman, Daniel I., Igo, Robert P., Hysi, Pirro G., Glastonbury, Craig A., Ashley-Koch, Allison, Brilliant, Murray, Brown, Andrew A., Budenz, Donald L., Buil, Alfonso, Cheng, Ching-Yu, Choi, Hyon, Christen, William G., Curhan, Gary, De Vivo, Immaculata, Fingert, John H., Foster, Paul J., Fuchs, Charles, Gaasterland, Douglas, Gaasterland, Terry, Hewitt, Alex W., Hu, Frank, Hunter, David J., Khawaja, Anthony P., Lee, Richard K., Li, Zheng, Lichter, Paul R., Mackey, David A., McGuffin, Peter, Mitchell, Paul, Moroi, Sayoko E., Perera, Shamira A., Pepper, Keating W., Qi, Qibin, Realini, Tony, Richards, Julia E., Ridker, Paul M, Rimm, Eric, Ritch, Robert, Ritchie, Marylyn, Schuman, Joel S., Scott, William K., Singh, Kuldev, Sit, Arthur J., Song, Yeunjoo E., Tamimi, Rulla M., Topouzis, Fotis, Viswanathan, Ananth C., Verma, Shefali Setia, Vollrath, Douglas, Wang, Jie Jin, Weisschuh, Nicole, Wissinger, Bernd, Wollstein, Gadi, Wong, Tien Y., Yaspan, Brian L., Zack, Donald J., Zhang, Kang, Weinreb, Robert N., Pericak-Vance, Margaret A., Small, Kerrin, Hammond, Christopher J., Aung, Tin, Liu, Yutao, Vithana, Eranga N., MacGregor, Stuart, Craig, Jamie E., Kraft, Peter, Howell, Gareth, Hauser, Michael A., Pasquale, Louis R., Haines, Jonathan L., Wiggs, Janey L.
Publicado 2016

Latitude dictates plant diversity effects on instream decomposition

por Boyero, Luz, Pérez, Javier, López-Rojo, Naiara, Tonin, Alan M., Correa-Araneda, Francisco, Pearson, Richard G., Bosch, Jaime, Albariño, Ricardo J., Anbalagan, Sankarappan, Barmuta, Leon A., Beesley, Leah, Burdon, Francis J., Caliman, Adriano, Callisto, Marcos, Campbell, Ian C., Cardinale, Bradley J., Casas, J. Jesús, Chará-Serna, Ana M., Ciapała, Szymon, Chauvet, Eric, Colón-Gaud, Checo, Cornejo, Aydeé, Davis, Aaron M., Degebrodt, Monika, Dias, Emerson S., Díaz, María E., Douglas, Michael M., Elosegi, Arturo, Encalada, Andrea C., de Eyto, Elvira, Figueroa, Ricardo, Flecker, Alexander S., Fleituch, Tadeusz, Frainer, André, França, Juliana S., García, Erica A., García, Gabriela, García, Pavel, Gessner, Mark O., Giller, Paul S., Gómez, Jesús E., Gómez, Sergio, Gonçalves, Jose F., Graça, Manuel A. S., Hall, Robert O., Hamada, Neusa, Hepp, Luiz U., Hui, Cang, Imazawa, Daichi, Iwata, Tomoya, Junior, Edson S. A., Kariuki, Samuel, Landeira-Dabarca, Andrea, Leal, María, Lehosmaa, Kaisa, M’Erimba, Charles, Marchant, Richard, Martins, Renato T., Masese, Frank O., Camden, Megan, McKie, Brendan G., Medeiros, Adriana O., Middleton, Jen A., Muotka, Timo, Negishi, Junjiro N., Pozo, Jesús, Ramírez, Alonso, Rezende, Renan S., Richardson, John S., Rincón, José, Rubio-Ríos, Juan, Serrano, Claudia, Shaffer, Angela R., Sheldon, Fran, Swan, Christopher M., Tenkiano, Nathalie S. D., Tiegs, Scott D., Tolod, Janine R., Vernasky, Michael, Watson, Anne, Yegon, Mourine J., Yule, Catherine M.
Publicado 2021

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

por Fritsche, Lars G., Igl, Wilmar, Cooke Bailey, Jessica N., Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabriëlle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frédéric, Blanché, Hélène, Deleuze, Jean-François, Igo, Robert P., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tƒan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Reneé, Brantley, Milam A., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Léveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Gonçalo R., Heid, Iris M.
Publicado 2015

Global patterns and drivers of ecosystem functioning in rivers and riparian zones

por Tiegs, Scott D., Costello, David M., Isken, Mark W., Woodward, Guy, McIntyre, Peter B., Gessner, Mark O., Chauvet, Eric, Griffiths, Natalie A., Flecker, Alex S., Acuña, Vicenç, Albariño, Ricardo, Allen, Daniel C., Alonso, Cecilia, Andino, Patricio, Arango, Clay, Aroviita, Jukka, Barbosa, Marcus V. M., Barmuta, Leon A., Baxter, Colden V., Bell, Thomas D. C., Bellinger, Brent, Boyero, Luz, Brown, Lee E., Bruder, Andreas, Bruesewitz, Denise A., Burdon, Francis J., Callisto, Marcos, Canhoto, Cristina, Capps, Krista A., Castillo, María M., Clapcott, Joanne, Colas, Fanny, Colón-Gaud, Checo, Cornut, Julien, Crespo-Pérez, Verónica, Cross, Wyatt F., Culp, Joseph M., Danger, Michael, Dangles, Olivier, de Eyto, Elvira, Derry, Alison M., Villanueva, Veronica Díaz, Douglas, Michael M., Elosegi, Arturo, Encalada, Andrea C., Entrekin, Sally, Espinosa, Rodrigo, Ethaiya, Diana, Ferreira, Verónica, Ferriol, Carmen, Flanagan, Kyla M., Fleituch, Tadeusz, Follstad Shah, Jennifer J., Frainer Barbosa, André, Friberg, Nikolai, Frost, Paul C., Garcia, Erica A., García Lago, Liliana, García Soto, Pavel Ernesto, Ghate, Sudeep, Giling, Darren P., Gilmer, Alan, Gonçalves, José Francisco, Gonzales, Rosario Karina, Graça, Manuel A. S., Grace, Mike, Grossart, Hans-Peter, Guérold, François, Gulis, Vlad, Hepp, Luiz U., Higgins, Scott, Hishi, Takuo, Huddart, Joseph, Hudson, John, Imberger, Samantha, Iñiguez-Armijos, Carlos, Iwata, Tomoya, Janetski, David J., Jennings, Eleanor, Kirkwood, Andrea E., Koning, Aaron A., Kosten, Sarian, Kuehn, Kevin A., Laudon, Hjalmar, Leavitt, Peter R., Lemes da Silva, Aurea L., Leroux, Shawn J., LeRoy, Carri J., Lisi, Peter J., MacKenzie, Richard, Marcarelli, Amy M., Masese, Frank O., McKie, Brendan G., Oliveira Medeiros, Adriana, Meissner, Kristian, Miliša, Marko, Mishra, Shailendra, Miyake, Yo, Moerke, Ashley, Mombrikotb, Shorok, Mooney, Rob, Moulton, Tim, Muotka, Timo, Negishi, Junjiro N., Neres-Lima, Vinicius, Nieminen, Mika L., Nimptsch, Jorge, Ondruch, Jakub, Paavola, Riku, Pardo, Isabel, Patrick, Christopher J., Peeters, Edwin T. H. M., Pozo, Jesus, Pringle, Catherine, Prussian, Aaron, Quenta, Estefania, Quesada, Antonio, Reid, Brian, Richardson, John S., Rigosi, Anna, Rincón, José, Rîşnoveanu, Geta, Robinson, Christopher T., Rodríguez-Gallego, Lorena, Royer, Todd V., Rusak, James A., Santamans, Anna C., Selmeczy, Géza B., Simiyu, Gelas, Skuja, Agnija, Smykla, Jerzy, Sridhar, Kandikere R., Sponseller, Ryan, Stoler, Aaron, Swan, Christopher M., Szlag, David, Teixeira-de Mello, Franco, Tonkin, Jonathan D., Uusheimo, Sari, Veach, Allison M., Vilbaste, Sirje, Vought, Lena B. M., Wang, Chiao-Ping, Webster, Jackson R., Wilson, Paul B., Woelfl, Stefan, Xenopoulos, Marguerite A., Yates, Adam G., Yoshimura, Chihiro, Yule, Catherine M., Zhang, Yixin X., Zwart, Jacob A.
Publicado 2019

Genome-wide association meta-analyses combining multiple risk phenotypes provides insights into the genetic architecture of cutaneous melanoma susceptibility

por Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Regno, Laura Del, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M, Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Bishop, Julia A. Newton, Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., Law, Matthew H.
Publicado 2020