Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population

por Jung, Jinsei, Lee, Joon Suk, Cho, Kyeong Jee, Yu, Seyoung, Yoon, Joo-Heon, Yung Gee, Heon, Choi, Jae Young
Publicado 2017

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

por Choi, Hye Ji, Lee, Joon Suk, Yu, Seyoung, Cha, Do Hyeon, Gee, Heon Yung, Choi, Jae Young, Lee, Jong Dae, Jung, Jinsei
Publicado 2017

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

por Jun, Ikhyun, Lee, Joon Suk, Lee, Ji Hwan, Lee, Christopher Seungkyu, Choi, Seung-il, Gee, Heon Yung, Lee, Min Goo, Kim, Eung Kweon
Publicado 2017

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency

por Rim, John Hoon, Lee, Joon Suk, Jung, Jinsei, Lee, Ji Hyun, Lee, Seung-Tae, Choi, Jong Rak, Choi, Jae Young, Lee, Min Goo, Gee, Heon Yung
Publicado 2019

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

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

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

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

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

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

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

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