Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans
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 in PloS one (28.10.2016)
Published in PloS one (28.10.2016)
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Journal Article
Characterization of background noise in capture-based targeted sequencing data
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
Published in Genome Biology (21.07.2017)
Published in Genome Biology (21.07.2017)
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Journal Article
Deciphering intratumor heterogeneity using cancer genome analysis
Ryu, Daeun, Joung, Je-Gun, Kim, Nayoung K. D., Kim, Kyu-Tae, Park, Woong-Yang
Published in Human Genetics (01.06.2016)
Published in Human Genetics (01.06.2016)
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Journal Article
Book Review
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors
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
Published in PloS one (20.11.2019)
Published in PloS one (20.11.2019)
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Journal Article
Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
Lee, Sang-Yeon, Choi, Hyun Been, Park, Mina, Choi, Il Soon, An, Jieun, Kim, Ami, Kim, Eunku, Kim, Nahyun, Han, Jin Hee, Kim, Min Young, Lee, Seung Min, Oh, Doo-Yi, Kim, Bong Jik, Yi, Nayoung, Kim, Nayoung K D, Lee, Chung, Park, Woong-Yang, Koh, Young Ik, Gee, Heon Yung, Cho, Hyun Sung, Kang, Tong Mook, Choi, Byung Yoon
Published in Experimental & molecular medicine (01.07.2021)
Published in Experimental & molecular medicine (01.07.2021)
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Journal Article
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics
Kim, Bong Jik, Jang, Jeong Hun, Han, Jin Hee, Park, Hye-Rim, Oh, Doo Yi, Lee, Seungmin, Kim, Min Young, Kim, Ah Reum, Lee, Chung, Kim, Nayoung K D, Park, Woong-Yang, Choung, Yun-Hoon, Choi, Byung Yoon
Published in Journal of translational medicine (27.11.2018)
Published in Journal of translational medicine (27.11.2018)
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Journal Article
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain
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 in PloS one (10.02.2015)
Published in PloS one (10.02.2015)
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Journal Article
Hepatorenal fibrocystic diseases in children
Park, Eujin, Lee, Jiwon M., Ahn, Yo Han, Kang, Hee Gyung, Ha, II Soo, Lee, Joo Hoon, Park, Young Seo, Kim, Nayoung K. D., Park, Woong-Yang, Cheong, Hae II
Published in Pediatric nephrology (Berlin, West) (01.01.2016)
Published in Pediatric nephrology (Berlin, West) (01.01.2016)
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Journal Article
Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests
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
Published in Journal of pathology and translational medicine (01.05.2017)
Published in Journal of pathology and translational medicine (01.05.2017)
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Journal Article
Introducing the bacterial ‘chromid’: not a chromosome, not a plasmid
Harrison, Peter W, Lower, Ryan P.J, Kim, Nayoung K.D, Young, J. Peter W
Published in Trends in microbiology (Regular ed.) (01.04.2010)
Published in Trends in microbiology (Regular ed.) (01.04.2010)
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Journal Article
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy
Han, Kyu-Hee, Oh, Doo-Yi, Lee, Seungmin, Lee, Chung, Han, Jin Hee, Kim, Min Young, Park, Hye-Rim, Park, Moo Kyun, Kim, Nayoung K D, Lee, Jaekwang, Yi, Eunyoung, Kim, Jong-Min, Kim, Jeong-Whun, Chae, Jong-Hee, Oh, Seung Ha, Park, Woong-Yang, Choi, Byung Yoon
Published in Scientific reports (28.11.2017)
Published in Scientific reports (28.11.2017)
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Journal Article
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing
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
Published in Scientific reports (18.11.2019)
Published in Scientific reports (18.11.2019)
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Journal Article
Author Correction: Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing
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
Published in Scientific reports (02.04.2020)
Published in Scientific reports (02.04.2020)
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Journal Article
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa
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
Published in BMC genomics (09.07.2015)
Published in BMC genomics (09.07.2015)
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Journal Article
Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract
Ahn, Yo Han, Lee, Chung, Kim, Nayoung K D, Park, Eujin, Kang, Hee Gyung, Ha, Il-Soo, Park, Woong-Yang, Cheong, Hae Il
Published in Journal of clinical medicine (10.03.2020)
Published in Journal of clinical medicine (10.03.2020)
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Journal Article
Accurate Prognosis Prediction of Pancreatic Ductal Adenocarcinoma Using Integrated Clinico-Genomic Data of Endoscopic Ultrasound-Guided Fine Needle Biopsy
Park, Joo Kyung, Kim, Hyemin, Son, Dae-Soon, Kim, Nayoung K. D., Sung, Young Kyung, Cho, Minseob, Lee, Chung, Noh, Dong Hyo, Lee, Se-Hoon, Lee, Kyu Taek, Lee, Jong Kyun, Jang, Kee-Taek, Park, Woong-Yang, Lee, Kwang Hyuck
Published in Cancers (03.06.2021)
Published in Cancers (03.06.2021)
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Journal Article
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features
Oh, Doo‐Yi, Matsumoto, Yoshihiro, Kitajiri, Shin‐ichiro, Kim, Nayoung K.D., Kim, Min Young, Kim, Ah Reum, Lee, Mingyu, Lee, Chung, Tomkinson, Alan E., Katsuno, Tatsuya, Kim, So Young, Shin, Hyun‐Woo, Han, Jin Hee, Lee, Seungmin, Park, Woong‐Yang, Choi, Byung Yoon
Published in Human mutation (01.05.2020)
Published in Human mutation (01.05.2020)
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Journal Article
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans
Kim, Ah Reum, Chung, Juyong, Kim, Nayoung K D, Lee, Chung, Park, Woong-Yang, Oh, Doo-Yi, Choi, Byung Yoon
Published in International journal of molecular sciences (26.10.2017)
Published in International journal of molecular sciences (26.10.2017)
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Journal Article
Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation
Kim, Minkyeong, Kim, Ah Reum, Park, Jongkyu, Kim, Ji Sun, Ahn, Jong Hyeon, Park, Woong-Yang, Kim, Nayoung K.D., Lee, Chung, Kim, Nam-Soon, Cho, Jin Whan, Youn, Jinyoung
Published in Clinical neurology and neurosurgery (01.12.2020)
Published in Clinical neurology and neurosurgery (01.12.2020)
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Journal Article
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article