Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases

por Hong, Sung Eun, Kneissl, Jana, Cho, Anna, Kim, Man Jin, Park, Soojin, Lee, Jeongeun, Woo, Sijae, Kim, Sora, Kim, Jun-Soon, Kim, Soo Yeon, Jung, Sungwon, Kim, Jinkuk, Shin, Je-Young, Chae, Jong-Hee, Choi, Murim
Publicado 2022

A framework for individualized splice-switching oligonucleotide therapy

por Kim, Jinkuk, Woo, Sijae, de Gusmao, Claudio M., Zhao, Boxun, Chin, Diana H., DiDonato, Renata L., Nguyen, Minh A., Nakayama, Tojo, Hu, Chunguang April, Soucy, Aubrie, Kuniholm, Ashley, Thornton, Jennifer Karlin, Riccardi, Olivia, Friedman, Danielle A., El Achkar, Christelle Moufawad, Dash, Zane, Cornelissen, Laura, Donado, Carolina, Faour, Kamli N. W., Bush, Lynn W., Suslovitch, Victoria, Lentucci, Claudia, Park, Peter J., Lee, Eunjung Alice, Patterson, Al, Philippakis, Anthony A., Margus, Brad, Berde, Charles B., Yu, Timothy W.
Publicado 2023