Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Por Dabora, Sandra L., Jozwiak, Sergiusz, Franz, David Neal, Roberts, Penelope S., Nieto, Andres, Chung, Joon, Choy, Yew-Sing, Reeve, Mary Pat, Thiele, Elizabeth, Egelhoff, John C., Kasprzyk-Obara, Jolanta, Domanska-Pakiela, Dorota, Kwiatkowski, David J.
Publicado em 2001

Phenome-wide association studies across large population cohorts support drug target validation

Por Diogo, Dorothée, Tian, Chao, Franklin, Christopher S., Alanne-Kinnunen, Mervi, March, Michael, Spencer, Chris C. A., Vangjeli, Ciara, Weale, Michael E., Mattsson, Hannele, Kilpeläinen, Elina, Sleiman, Patrick M. A., Reilly, Dermot F., McElwee, Joshua, Maranville, Joseph C., Chatterjee, Arnaub K., Bhandari, Aman, Nguyen, Khanh-Dung H., Estrada, Karol, Reeve, Mary-Pat, Hutz, Janna, Bing, Nan, John, Sally, MacArthur, Daniel G., Salomaa, Veikko, Ripatti, Samuli, Hakonarson, Hakon, Daly, Mark J., Palotie, Aarno, Hinds, David A., Donnelly, Peter, Fox, Caroline S., Day-Williams, Aaron G., Plenge, Robert M., Runz, Heiko
Publicado no Nat Commun (2018)