Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Por Rautanen, Anna, Pirinen, Matti, Mills, Tara C., Rockett, Kirk A., Strange, Amy, Ndungu, Anne W., Naranbhai, Vivek, Gilchrist, James J., Bellenguez, Céline, Freeman, Colin, Band, Gavin, Bumpstead, Suzannah J., Edkins, Sarah, Giannoulatou, Eleni, Gray, Emma, Dronov, Serge, Hunt, Sarah E., Langford, Cordelia, Pearson, Richard D., Su, Zhan, Vukcevic, Damjan, Macharia, Alex W., Uyoga, Sophie, Ndila, Carolyne, Mturi, Neema, Njuguna, Patricia, Mohammed, Shebe, Berkley, James A., Mwangi, Isaiah, Mwarumba, Salim, Kitsao, Barnes S., Lowe, Brett S., Morpeth, Susan C., Khandwalla, Iqbal, Blackwell, Jenefer M., Bramon, Elvira, Brown, Matthew A., Casas, Juan P., Corvin, Aiden, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S., Mathew, Christopher G., Palmer, Colin N.A., Plomin, Robert, Sawcer, Stephen J., Trembath, Richard C., Viswanathan, Ananth C., Wood, Nicholas W., Deloukas, Panos, Peltonen, Leena, Williams, Thomas N., Scott, J. Anthony G., Chapman, Stephen J., Donnelly, Peter, Hill, Adrian V.S., Spencer, Chris C.A.
Publicado no Am J Hum Genet (2016)

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Por Toro, Camilo, Hori, Roderick T, Malicdan, May Christine V, Tifft, Cynthia J, Goldstein, Amy, Gahl, William A, Adams, David R, Fauni, Harper B, Wolfe, Lynne A, Xiao, Jianfeng, Khan, Mohammad M, Tian, Jun, Hope, Kevin A, Reiter, Lawrence T, Tremblay, Michel G, Moss, Tom, Franks, Alexis L, Balak, Chris, LeDoux, Mark S
Publicado no Hum Mol Genet (2018)