Application of Next Generation Sequencing Upon the Molecular Genetic Diagnosis of Deafness

by Choi, Byung Yoon, Kim, Bong Jik
Published 2012

Strategy for the Customized Mass Screening of Genetic Sensorineural Hearing Loss in Koreans

by Chang, Mun Young, Choi, Byung Yoon
Published 2014

A Case with the Bilateral Narrow Bony Cochlear Nerve Canals Associated with Near Normal Hearing Thresholds

by Ahn, Jae-Cheul, Kim, Shin-Hye, Choi, Byung Yoon
Published 2012

Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implicati...

by Chang, Mun Young, Kim, Ah Reum, Kim, Nayoung K.D., Lee, Chung, Park, Woong-Yang, Choi, Byung Yoon
Published 2015

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing L...

by Han, Kyu-Hee, Kim, Ah Reum, Kim, Min Young, Ahn, Soyeon, Oh, Seung-Ha, Song, Ju Hun, Choi, Byung Yoon
Published 2016

Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity

by Kim, So Young, Park, Gibeom, Han, Kyu-Hee, Kim, Ahreum, Koo, Ja-Won, Chang, Sun O., Oh, Seung Ha, Park, Woong-Yang, Choi, Byung Yoon
Published 2013

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

by Park, Gibeom, Gim, Jungsoo, Kim, Arheum, Han, Kyu-Hee, Kim, Hyo-Sang, Oh, Seung-Ha, Park, Taesung, Park, Woong-Yang, Choi, ByungYoon
Published 2013

Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

by Choi, Byung Yoon, Kim, Jiwoong, Chung, Juyong, Kim, Ah Reum, Mun, Sue Jean, Kang, Seong Il, Lee, Sang-Heon, Kim, Namshin, Oh, Seung-Ha
Published 2014

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population

by Kim, So Young, Kim, Ah Reum, Han, Kyu Hee, Kim, Min Young, Jeon, Eun-Hee, Koo, Ja-Won, Oh, Seung Ha, Choi, Byung Yoon
Published 2015

Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome

by Kim, Shin Hye, Kim, Ah Reum, Choi, Hyun Seok, Kim, Min Young, Chun, Eun Hi, Oh, Seung-Ha, Choi, Byung Yoon
Published 2015

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

by Kim, So Young, Kim, Ah Reum, Kim, Nayoung K. D., Lee, Chung, Kim, Min Young, Jeon, Eun-Hee, Park, Woong-Yang, Choi, Byung Yoon
Published 2016

Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR

by Chang, Mun Young, Kim, Ah Reum, Kim, Min Young, Kim, Soyoung, Yoon, Jinsun, Han, Jae Joon, Ahn, Soyeon, Kang, Changsoo, Choi, Byung Yoon
Published 2016

Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

by Yoo, Hee Jeong, Kim, Kyung, Kim, In Hyang, Rho, Seong-Hwan, Park, Jong-Eun, Lee, Ki Young, Kim, Soon Ae, Choi, Byung Yoon, Kim, Namshin
Published 2015

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication

by Park, Joo Hyun, Kim, Nayoung K D, Kim, Ah Reum, Rhee, Jihye, Oh, Seung Ha, Koo, Ja-Won, Nam, Jae-Yong, Park, Woong-Yang, Choi, Byung Yoon
Published 2014

Diagnostic Application of Targeted Resequencing for Familial Nonsyndromic Hearing Loss

by Choi, Byung Yoon, Park, Gibeom, Gim, Jungsoo, Kim, Ah Reum, Kim, Bong-Jik, Kim, Hyo-Sang, Park, Joo Hyun, Park, Taesung, Oh, Seung-Ha, Han, Kyu-Hee, Park, Woong-Yang
Published 2013

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

by Kim, So Young, Kim, Ah Reum, Kim, Nayoung K D, Kim, Min Young, Jeon, Eun-Hee, Kim, Bong Jik, Han, Young Eun, Chang, Mun Young, Park, Woong-Yang, Choi, Byung Yoon
Published 2015

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing

by Chang, Mun Young, Kim, Ah Reum, Kim, Nayoung K.D., Lee, Chung, Lee, Kyoung Yeul, Jeon, Woo-Sung, Koo, Ja-Won, Oh, Seung Ha, Park, Woong-Yang, Kim, Dongsup, Choi, Byung Yoon
Published 2015

Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain

by Kim, Nayoung K. D., Higashi, Tomohito, Lee, Kyoung Yeul, Kim, Ah Reum, Kitajiri, Shin-ichiro, Kim, Min Young, Chang, Mun Young, Kim, Veronica, Oh, Seung-Ha, Kim, Dongsup, Furuse, Mikio, Park, Woong-Yang, Choi, Byung Yoon
Published 2015

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans

by Kim, Bong Jik, Kim, Ah Reum, Lee, Chung, Kim, So Young, Kim, Nayoung K. D., Chang, Mun Young, Rhee, Jihye, Park, Mi-Hyun, Koo, Soo Kyung, Kim, Min Young, Han, Jin Hee, Oh, Seung-ha, Park, Woong-Yang, Choi, Byung Yoon
Published 2016