Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1

by Pearce, Laura R., Joe, Ray, Doche, Michael E., Su, Hsiao-Wen, Keogh, Julia M., Henning, Elana, Argetsinger, Lawrence S., Bochukova, Elena G., Cline, Joel M., Garg, Sumedha, Saeed, Sadia, Shoelson, Steven, O'Rahilly, Stephen, Barroso, Inês, Rui, Liangyou, Farooqi, I. Sadaf, Carter-Su, Christin
Published 2014

CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1

by Nag, Abhishek, Bochukova, Elena G., Kremeyer, Barbara, Campbell, Desmond D., Muller, Heike, Valencia-Duarte, Ana V., Cardona, Julio, Rivas, Isabel C., Mesa, Sandra C., Cuartas, Mauricio, Garcia, Jharley, Bedoya, Gabriel, Cornejo, William, Herrera, Luis D., Romero, Roxana, Fournier, Eduardo, Reus, Victor I., Lowe, Thomas L., Farooqi, I. Sadaf, Mathews, Carol A., McGrath, Lauren M., Yu, Dongmei, Cook, Ed, Wang, Kai, Scharf, Jeremiah M., Pauls, David L., Freimer, Nelson B., Plagnol, Vincent, Ruiz-Linares, Andrés
Published 2013

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

by Pearce, Laura R., Atanassova, Neli, Banton, Matthew C., Bottomley, Bill, van der Klaauw, Agatha A., Revelli, Jean-Pierre, Hendricks, Audrey, Keogh, Julia M., Henning, Elana, Doree, Deon, Jeter-Jones, Sabrina, Garg, Sumedha, Bochukova, Elena G., Bounds, Rebecca, Ashford, Sofie, Gayton, Emma, Hindmarsh, Peter C., Shield, Julian P.H., Crowne, Elizabeth, Barford, David, Wareham, Nick J., O’Rahilly, Stephen, Murphy, Michael P., Powell, David R., Barroso, Ines, Farooqi, I. Sadaf
Published 2013