Whole Exome Sequencing in a Random Sample of North American Women with Leiomyomas Identifies MED12 Mutations in Majority of Uterine Leiomyomas

por McGuire, Megan M., Yatsenko, Alexander, Hoffner, Lori, Jones, Mirka, Surti, Urvashi, Rajkovic, Aleksandar
Publicado 2012

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review

por Hu, Jie, Ou, Zhishuo, Infante, Elena, Kochmar, Sally J., Madan-Khetarpal, Suneeta, Hoffner, Lori, Parsazad, Shafagh, Surti, Urvashi
Publicado 2017

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

por Liao, Jun, Coffman, Keith A., Locker, Joseph, Padiath, Quasar S., Nmezi, Bruce, Filipink, Robyn A., Hu, Jie, Sathanoori, Malini, Madan‐Khetarpal, Suneeta, McGuire, Marianne, Schreiber, Allison, Moran, Rocio, Friedman, Neil, Hoffner, Lori, Rajkovic, Aleksandar, Yatsenko, Svetlana A., Surti, Urvashi
Publicado 2021