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

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

Soo Hyun Nam, Young Bin Hong, Young Se Hyun et al. · Molecules and Cells · 2016 · 73 citations · Full text

Genetic Causes, Neurogenomics, Genetics +16

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 · 66 citations · Full text

Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol

Karen Wou, Young Se Hyun, David Chitayat et al. · European Journal of Medical Genetics · 2016 · 56 citations

Infertility, Embryology, Perinatal Losses +13

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

Young Bin Hong, Jaesoon Joo, Young Se Hyun et al. · PLoS Genetics · 2016 · 54 citations · Full text

Pmp22 Duplication, Charcot-marie-tooth Disease, Neurological Disorder +9