Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution

por Koprulu, Mine, Zhao, Yajie, Wheeler, Eleanor, Dong, Liang, Rocha, Nuno, Li, Chen, Griffin, John D, Patel, Satish, Van de Streek, Marcel, Glastonbury, Craig A, Stewart, Isobel D, Day, Felix R, Luan, Jian’an, Bowker, Nicholas, Wittemans, Laura B L, Kerrison, Nicola D, Cai, Lina, Lucarelli, Debora M E, Barroso, Inês, McCarthy, Mark I, Scott, Robert A, Saudek, Vladimir, Small, Kerrin S, Wareham, Nicholas J, Semple, Robert K, Perry, John R B, O’Rahilly, Stephen, Lotta, Luca A, Langenberg, Claudia, Savage, David B
Publicado 2021

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

por Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Publicado 2021

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

por Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A., Stadnik, Paulina, Joseph, Agnel P., Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M., Jacques, Thomas S., James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M., Khan, Amjad, Lindhurst, Marjorie J., Lipson, Mark, Mansour, Sahar, O’Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E., Rivière, Jean-Baptiste, Sapp, Julie C., Sebire, Neil J., Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G., Barnacle, Alex, Topf, Maya, Semple, Robert K., Patton, E. Elizabeth, Kinsler, Veronica A.
Publicado 2018

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

por Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.
Publicado 2018

A Genome-Wide Association Study Reveals Variants in ARL15 that Influence Adiponectin Levels

por Richards, J. Brent, Waterworth, Dawn, O'Rahilly, Stephen, Hivert, Marie-France, Loos, Ruth J. F., Perry, John R. B., Tanaka, Toshiko, Timpson, Nicholas John, Semple, Robert K., Soranzo, Nicole, Song, Kijoung, Rocha, Nuno, Grundberg, Elin, Dupuis, Josée, Florez, Jose C., Langenberg, Claudia, Prokopenko, Inga, Saxena, Richa, Sladek, Robert, Aulchenko, Yurii, Evans, David, Waeber, Gerard, Erdmann, Jeanette, Burnett, Mary-Susan, Sattar, Naveed, Devaney, Joseph, Willenborg, Christina, Hingorani, Aroon, Witteman, Jaquelin C. M., Vollenweider, Peter, Glaser, Beate, Hengstenberg, Christian, Ferrucci, Luigi, Melzer, David, Stark, Klaus, Deanfield, John, Winogradow, Janina, Grassl, Martina, Hall, Alistair S., Egan, Josephine M., Thompson, John R., Ricketts, Sally L., König, Inke R., Reinhard, Wibke, Grundy, Scott, Wichmann, H-Erich, Barter, Phil, Mahley, Robert, Kesaniemi, Y. Antero, Rader, Daniel J., Reilly, Muredach P., Epstein, Stephen E., Stewart, Alexandre F. R., Van Duijn, Cornelia M., Schunkert, Heribert, Burling, Keith, Deloukas, Panos, Pastinen, Tomi, Samani, Nilesh J., McPherson, Ruth, Davey Smith, George, Frayling, Timothy M., Wareham, Nicholas J., Meigs, James B., Mooser, Vincent, Spector, Tim D.
Publicado 2009

Mendelian Randomization Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes

por Yaghootkar, Hanieh, Lamina, Claudia, Scott, Robert A., Dastani, Zari, Hivert, Marie-France, Warren, Liling L., Stancáková, Alena, Buxbaum, Sarah G., Lyytikäinen, Leo-Pekka, Henneman, Peter, Wu, Ying, Cheung, Chloe Y.Y., Pankow, James S., Jackson, Anne U., Gustafsson, Stefan, Zhao, Jing Hua, Ballantyne, Christie M., Xie, Weijia, Bergman, Richard N., Boehnke, Michael, el Bouazzaoui, Fatiha, Collins, Francis S., Dunn, Sandra H., Dupuis, Josee, Forouhi, Nita G., Gillson, Christopher, Hattersley, Andrew T., Hong, Jaeyoung, Kähönen, Mika, Kuusisto, Johanna, Kedenko, Lyudmyla, Kronenberg, Florian, Doria, Alessandro, Assimes, Themistocles L., Ferrannini, Ele, Hansen, Torben, Hao, Ke, Häring, Hans, Knowles, Joshua W., Lindgren, Cecilia M., Nolan, John J., Paananen, Jussi, Pedersen, Oluf, Quertermous, Thomas, Smith, Ulf, Lehtimäki, Terho, Liu, Ching-Ti, Loos, Ruth J.F., McCarthy, Mark I., Morris, Andrew D., Vasan, Ramachandran S., Spector, Tim D., Teslovich, Tanya M., Tuomilehto, Jaakko, van Dijk, Ko Willems, Viikari, Jorma S., Zhu, Na, Langenberg, Claudia, Ingelsson, Erik, Semple, Robert K., Sinaiko, Alan R., Palmer, Colin N.A., Walker, Mark, Lam, Karen S.L., Paulweber, Bernhard, Mohlke, Karen L., van Duijn, Cornelia, Raitakari, Olli T., Bidulescu, Aurelian, Wareham, Nick J., Laakso, Markku, Waterworth, Dawn M., Lawlor, Debbie A., Meigs, James B., Richards, J. Brent, Frayling, Timothy M.
Publicado 2013