Hye-Rim Park

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy

Kyu-Hee Han, Doo‐Yi Oh, Seungmin Lee et al. · Scientific Reports · 2017 · 62 citations · Full text

Medicine, Molecular Genetics, Neurology +17

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

Bong Jik Kim, Doo‐Yi Oh, Jin Hee Han et al. · Genetics in Medicine · 2020 · 58 citations

Medicine, Genetics, Pediatrics +14

One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

Mun Young Chang, Soyeon Ahn, Min Young Kim et al. · Scientific Reports · 2018 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics

Bong Jik Kim, Jeong Hun Jang, Jin Hee Han et al. · Journal of Translational Medicine · 2018 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Young Chang, Chung Lee, Jin Hee Han et al. · BMC Medical Genetics · 2018 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17