The primary objective of this proposal is to evaluate whether targeted RNASeq has the potential to assist in the clinical diagnosis of the causes…
PI
Greg Gibson & Keiko Tarquinio
Publications
Charkravorty, S., Berger, K., Arafat, D., Nallamilli, B., Subramanian, H., Joseph, S., Anderson, M., Campbell, K., Glass, J., Gibson, G., Hedge, M., “Clinical Utility of RNA Sequencing to Resolve Unusual GNE Myopathy with Novel Promotor Deletion”, Muscle & Nerve 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486. Epub 2019 Apr 29
Research Area