Young Ik Koh

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Sang‐Yeon Lee, Hyun Been Choi, Mina Park et al. · Experimental & Molecular Medicine · 2021 · 40 citations · Full text

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

Jinsei Jung, Haiyue Lin, Young Ik Koh et al. · Experimental & Molecular Medicine · 2019 · 29 citations · Full text

<i>OSBPL2</i> mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin

Young Ik Koh, Kyung Seok Oh, Jung Ah Kim et al. · Autophagy · 2022 · 28 citations · Full text

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

Jinsei Jung, Hyun Been Choi, Young Ik Koh et al. · Scientific Reports · 2018 · 27 citations · Full text

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation

John Hoon Rim, Byunghwa Noh, Young Ik Koh et al. · Human Genetics · 2021 · 22 citations · Full text

Genetics, Genetic Epidemiology, Notch Ligand +18