Young Se Hyun

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

Byung‐Ok Choi, Soo Kyung Koo, Mi‐Hyun Park et al. · Human Mutation · 2012 · 104 citations

Life Sciences, Genetics, Molecular Genetics +17

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Byung‐Ok Choi, Sung Hee Kang, Young Se Hyun et al. · Human Mutation · 2011 · 70 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy

Young Bin Hong, Jaesoon Joo, Young Se Hyun et al. · PLoS Genetics · 2016 · 57 citations · Full text

Medicine, Genetics, Neurology +17

<scp><i>ADSSL</i></scp><i>1</i> mutation relevant to autosomal recessive adolescent onset distal myopathy

Hyung Jun Park, Young Bin Hong, Young‐Chul Choi et al. · Annals of Neurology · 2015 · 53 citations · Full text

Medicine, Genetics, Molecular Genetics +16

<i>DGAT2</i>Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease

Young Bin Hong, JungHee Kang, Ji Hyun Kim et al. · Human Mutation · 2016 · 49 citations

Medicine, Genetics, Neurology +17