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

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

Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer

por Park, Sehhoon, Lee, Chung, Ku, Bo Mi, Kim, Minjae, Park, Woong-Yang, Kim, Nayoung K. D., Ahn, Myung-Ju
Publicado 2021

The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

por Kim, Ah Reum, Chung, Juyong, Kim, Nayoung K. D., Lee, Chung, Park, Woong-Yang, Oh, Doo-Yi, Choi, Byung Yoon
Publicado 2017

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

por Bae, Kunho, Song, Ju Sun, Lee, Chung, Kim, Nayoung K.D., Park, Woong-Yang, Kim, Byoung Joon, Ki, Chang-Seok, Kim, Sang Jin
Publicado 2017

Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy

por Kim, Jong Min, Lee, Chung, Lee, Ga-In, Kim, Nayoung K. D., Ki, Chang-Seok, Park, Woong-Yang, Kim, Byoung Joon, Kim, Sang Jin
Publicado 2017

Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract

por Ahn, Yo Han, Lee, Chung, Kim, Nayoung K. D., Park, Eujin, Kang, Hee Gyung, Ha, Il-Soo, Park, Woong-Yang, Cheong, Hae Il
Publicado 2020

Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase

por Okawa, Yuki, Ebata, Nobutaka, Kim, Nayoung K.D., Fujita, Masashi, Maejima, Kazuhiro, Sasagawa, Shota, Nakamura, Toru, Park, Woong-Yang, Hirano, Satoshi, Nakagawa, Hidewaki
Publicado 2021

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

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

Recurrent mutations of MAPK pathway genes in multiple myeloma but not in amyloid light-chain amyloidosis

por Kim, Seok Jin, Shin, Hyun-Tae, Lee, Hae-Ock, Kim, Nayoung K.D., Yun, Jae Won, Hwang, Jee Hyang, Kim, Kihyun, Park, Woong-Yang
Publicado 2016

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

por 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
Publicado 2014

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

por Yoon, Chang-Ki, Kim, Nayoung K. D., Joung, Je-Gun, Shin, Joo Young, Park, Jung Hyun, Eum, Hye-Hyun, Lee, Hae-ock, Park, Woong-Yang, Yu, Hyeong Gon
Publicado 2015

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors

por Lee, Ji Won, Kim, Nayoung K. D., Lee, Soo Hyun, Cho, Hee Won, Ma, Youngeun, Ju, Hee Young, Yoo, Keon Hee, Sung, Ki Woong, Koo, Hong Hoe, Park, Woong-Yang
Publicado 2019

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

por 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
Publicado 2015

The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6

por Ahn, Jong Hyeon, Kim, Ah Reum, Kim, Nayoung K. D., Park, Woong-Yang, Kim, Ji Sun, Kim, Minkyeong, Park, Jongkyu, Lee, Jung-Il, Cho, Jin Whan, Cho, Kyung Rae, Youn, Jinyoung
Publicado 2019

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

por 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
Publicado 2015

Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests

por Kim, Jihun, Park, Woong-Yang, Kim, Nayoung K. D., Jang, Se Jin, Chun, Sung-Min, Sung, Chang-Ohk, Choi, Jene, Ko, Young-Hyeh, Choi, Yoon-La, Shim, Hyo Sup, Won, Jae-Kyung
Publicado 2017

Efficacy of BRAF Inhibitors in Asian Metastatic Melanoma Patients: Potential Implications of Genomic Sequencing in BRAF-Mutated Melanoma()()

por Kim, Hee Kyung, Lee, Sunyoung, Kim, Kyung, Heo, Mi Hwa, Lee, Hansang, Cho, Jinhyun, Kim, Nayoung K.D., Park, Woongyang, Lee, Su Jin, Kim, Jung Han, Jang, Kee-Taek, Choi, Sang-Hee, Lee, Jeeyun
Publicado 2016

Characterization of background noise in capture-based targeted sequencing data

por Park, Gahee, Park, Joo Kyung, Shin, Seung-Ho, Jeon, Hyo-Jeong, Kim, Nayoung K. D., Kim, Yeon Jeong, Shin, Hyun-Tae, Lee, Eunjin, Lee, Kwang Hyuck, Son, Dae-Soon, Park, Woong-Yang, Park, Donghyun
Publicado 2017

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

por 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
Publicado 2015

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing

por Kim, Hyunsuk, Park, Hayne Cho, Ryu, Hyunjin, Kim, Hyunho, Lee, Hyun-Seob, Heo, Jongho, Lee, Chung, Kim, Nayoung K. D., Park, Woong-Yang, Hwang, Young-Hwan, Lee, Kyu Beck, Oh, Kook-Hwan, Oh, Yun kyu, Ahn, Curie
Publicado 2019