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

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

por Lee, Youngha, Park, Soojin, Lee, Jin Sook, Kim, Soo Yeon, Cho, Jaeso, Yoo, Yongjin, Lee, Sangmoon, Yoo, Taekyeong, Lee, Moses, Seo, Jieun, Lee, Jeongeun, Kneissl, Jana, Lee, Jean, Jeon, Hyoungseok, Jeon, Eun Young, Hong, Sung Eun, Kim, Eunha, Kim, Hyuna, Kim, Woo Joong, Kim, Jon Soo, Ko, Jung Min, Cho, Anna, Lim, Byung Chan, Kim, Won Seop, Choi, Murim, Chae, Jong-Hee
Publicado 2020