Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

by Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung
Published 2017-12-01

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

by Ikhyun Jun, Joon Suk Lee, Ji Hwan Lee, Christopher Seungkyu Lee, Seung-il Choi, Heon Yung Gee, Min Goo Lee, Eung Kweon Kim
Published 2017-08-01

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

by Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee
Published 2018-03-01

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review

by Jiwon M. Lee, Jaewon Shin, Sol Kim, Heon Yung Gee, Joon Suk Lee, Do Hyeon Cha, John Hoon Rim, Se-Jin Park, Ji Hong Kim, Ahmet Uçar, Andreas Kronbichler, Keum Hwa Lee, Jae Il Shin
Published 2018-01-01

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss

by Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, Heon Yung Gee
Published 2018-11-01

Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment

by Jinsei Jung, Haiyue Lin, Young Ik Koh, Kunhi Ryu, Joon Suk Lee, John Hoon Rim, Hye Ji Choi, Hak Joon Lee, Hye-Youn Kim, Seyoung Yu, Hyunsoo Jin, Ji Hyun Lee, Min Goo Lee, Wan Namkung, Jae Young Choi, Heon Yung Gee
Published 2019-08-01