Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

par Ulirsch, Jacob C., Nandakumar, Satish K., Wang, Li, Giani, Felix C., Zhang, Xiaolan, Rogov, Peter, Melnikov, Alexandre, McDonel, Patrick, Do, Ron, Mikkelsen, Tarjei S., Sankaran, Vijay G.
Publié dans Cell (2016)

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

par Joshi, Mugdha, Anselm, Irina, Shi, Jiahai, Bale, Tejus A., Towne, Meghan, Schmitz-Abe, Klaus, Crowley, Laura, Giani, Felix C., Kazerounian, Shideh, Markianos, Kyriacos, Lidov, Hart G., Folkerth, Rebecca, Sankaran, Vijay G., Agrawal, Pankaj B.
Publié dans Cold Spring Harb Mol Case Stud (2016)

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells

par Giani, Felix C., Fiorini, Claudia, Wakabayashi, Aoi, Ludwig, Leif S., Salem, Rany M., Jobaliya, Chintan D., Regan, Stephanie N., Ulirsch, Jacob C., Liang, Ge, Steinberg-Shemer, Orna, Guo, Michael H., Esko, Tõnu, Tong, Wei, Brugnara, Carlo, Hirschhorn, Joel N., Weiss, Mitchell J., Zon, Leonard I., Chou, Stella T., French, Deborah L., Musunuru, Kiran, Sankaran, Vijay G.
Publié dans Cell Stem Cell (2015)