Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

por Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.
Publicado 2017

Whole‐exome sequencing for variant discovery in blepharospasm

por Tian, Jun, Vemula, Satya R., Xiao, Jianfeng, Valente, Enza Maria, Defazio, Giovanni, Petrucci, Simona, Gigante, Angelo Fabio, Rudzińska‐Bar, Monika, Wszolek, Zbigniew K., Kennelly, Kathleen D., Uitti, Ryan J., van Gerpen, Jay A., Hedera, Peter, Trimble, Elizabeth J., LeDoux, Mark S.
Publicado 2018