Clinical and Experimental Otorhinolaryngology

Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss

Seung Jae Lee, Somin Lee, Jin Hee Han, Byung Yoon Choi, Jun Ho Lee, Dae Hee Lee, Sang-Yeon Lee, Seung-Ha Oh

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh, Sang-Yeon Lee

Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center

Dong Woo Nam, Dae Woong Kang, So Min Lee, Moo Kyun Park, Jun Ho Lee, Seung Ha Oh, Myung-Whan Suh, Sang-Yeon Lee

Otology & Neurotology.2023; 44(5): e319. CrossRef

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea

Somin Lee, Yejin Yun, Ju Hyuen Cha, Jin Hee Han, Dae Hee Lee, Jae-Jin Song, Moo Kyun Park, Jun Ho Lee, Seung Ha Oh, Byung Yoon Choi, Sang-Yeon Lee

Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects

Sang-Yeon Lee, Min Young Kim, Jin Hee Han, Sang Soo Park, Yejin Yun, Seung-Cheol Jee, Jae Joon Han, Jun Ho Lee, Heeyoung Seok, Byung Yoon Choi

Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients

Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo, Sang-Yeon Lee

Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions

Sung Ho Cho, Yejin Yun, Dae Hee Lee, Joo Hyun Cha, So Min Lee, Jehyun Lee, Myung Hwan Suh, Jun Ho Lee, Seung-Ha Oh, Moo Kyun Park, Sang-Yeon Lee

Expanding Genotype–Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss

Yejin Yun, Sang Soo Park, Soyoung Lee, Heeyoung Seok, Seongyeol Park, Sang-Yeon Lee

International Journal of Molecular Sciences.2023; 24(23): 17077. CrossRef

Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s

Bong Jik Kim, Hyoung Won Jeon, Woosung Jeon, Jin Hee Han, Jayoung Oh, Nayoung Yi, Min Young Kim, Minah Kim, Justin Namju Kim, Bo Hye Kim, Joon Young Hyon, Dongsup Kim, Ja-Won Koo, Doo-Yi Oh, Byung Yoon Choi

Journal of Medical Genetics.2022; 59(5): 470. CrossRef

Review of Genotype-Phenotype Correlations in Usher Syndrome

Eric Nisenbaum, Torin P. Thielhelm, Aida Nourbakhsh, Denise Yan, Susan H. Blanton, Yilai Shu, Karl R. Koehler, Aziz El-Amraoui, Zhengyi Chen, Byron L. Lam, Xuezhong Liu

Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees

Yehree Kim, Jin Hee Han, Hyo Soon Yoo, Byung Yoon Choi

European Archives of Oto-Rhino-Laryngology.2022; 279(10): 4871. CrossRef

Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort

Audrey Meunier, Xavier Zanlonghi, Anne-Françoise Roux, Jean-François Fils, Laure Caspers, Isabelle Migeotte, Marc Abramowicz, Isabelle Meunier

Hearing loss due to mutations in the genes responsible for Usher syndrome

T.G. Markova, N.N. Alekseeva, O.A. Belov, T.I. Chugunova, E.R. Tsygankova

Vestnik otorinolaringologii.2022; 87(1): 52. CrossRef

Searching for the Molecular Basis of Partial Deafness

Dominika Oziębło, Natalia Bałdyga, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak

International Journal of Molecular Sciences.2022; 23(11): 6029. CrossRef

Efficacy of cochlear implants in children with borderline hearing who have already achieved significant language development with hearing aids

Young Seok Kim, Yehree Kim, Seung Jae Lee, Jin Hee Han, Nayoung Yi, Hyo Soon Yoo, Marge Carandang, Sang-Yeon Lee, Bong Jik Kim, Byung Yoon Choi, Shin-ichi Usami

Novel Molecular Genetic Etiology of Asymmetric Hearing Loss: Autosomal-Dominant LMX1A Variants

Sang-Yeon Lee, Hyo Soon Yoo, Jin Hee Han, Dae Hee Lee, Sang Soo Park, Myung Hwan Suh, Jun Ho Lee, Seung-Ha Oh, Byung Yoon Choi

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases

Young Seok Kim, Yoonjoong Kim, Hyoung Won Jeon, Nayoung Yi, Sang-Yeon Lee, Yehree Kim, Jin Hee Han, Min Young Kim, Bo Hye Kim, Hyeong Yun Choi, Marge Carandang, Ja-Won Koo, Bong Jik Kim, Yun Jung Bae, Byung Yoon Choi

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss

So Young Kim, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Nayoung Yi, Namju Justin Kim, Moo Kyun Park, Changwon Keum, Go Hun Seo, Byung Yoon Choi

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen K. Jolly, Robert E. MacLaren, Penny Clouston, Stephanie Halford, Susan M. Downes

Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers

Hyung Dong Jo, Jin Hee Han, So Min Lee, Dong Hwa Choi, Sang-Yeon Lee, Byung Yoon Choi

Outcome of Cochlear Implantation in NLRP3-related Autoinflammatory Inner Ear Disorders

Bong Jik Kim, Young Ho Kim, Jin Hee Han, Sang-Yeon Lee, Marge Carandang, Dong-Han Lee, Soyoung Lee, Byung Yoon Choi

Otology & Neurotology.2021; 42(2): e168. CrossRef

Modiolar Proximity of Slim Modiolar Electrodes and Cochlear Duct Length: Correlation for Potential Basis of Customized Cochlear Implantation With Perimodiolar Electrodes

Sang-Yeon Lee, Yun Jung Bae, Marge Carandang, Yoonjoong Kim, Jin Hee Han, Gene Huh, Jae-Jin Song, Ja-Won Koo, Jun Ho Lee, Seung Ha Oh, Byung Yoon Choi

Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes: Clinical Implications for Hearing Rehabilitation

Sang-Yeon Lee, Seung Cheol Han, Jin Hee Han, Min Young Kim, Doo-Yi Oh, Namju Justin Kim, Jae-Jin Song, Ja-Won Koo, Jun Ho Lee, Seung-Ha Oh, Byung Yoon Choi

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Sang-Yeon Lee, Hyun Been Choi, Mina Park, Il Soon Choi, Jieun An, Ami Kim, Eunku Kim, Nahyun Kim, Jin Hee Han, Min young Kim, Seung min Lee, Doo-Yi Oh, Bong Jik Kim, Nayoung Yi, Nayoung, K. D. Kim, Chung Lee, Woong-Yang Park, Young Ik Koh, Heon Yung Gee,

Experimental & Molecular Medicine.2021; 53(7): 1192. CrossRef

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

Bong Jik Kim, Doo-Yi Oh, Jin Hee Han, Jayoung Oh, Min Young Kim, Hye-Rim Park, Jungirl Seok, Sung-dong Cho, Sang-Yeon Lee, Yoonjoong Kim, Marge Carandang, In Sun Kwon, Seungmin Lee, Jeong Hun Jang, Yun-Hoon Choung, Sejoon Lee, Hakmin Lee, Sang Mee Hwang,

Genetics in Medicine.2020; 22(6): 1119. CrossRef

The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees

Sang-Yeon Lee, Ye Ji Shim, Jin-Hee Han, Jae-Jin Song, Ja-Won Koo, Seung Ha Oh, Seungmin Lee, Doo-Yi Oh, Byung Yoon Choi

The Era of Precision Medicine: Reshaping Usher Syndrome

Clinical and Experimental Otorhinolaryngology.2020; 13(2): 87. CrossRef

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi

Usher syndrome: clinical features, molecular genetics and advancing therapeutics

Therapeutic Advances in Ophthalmology.2020; 12: 251584142095219. CrossRef

Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss

Sang‐Yeon Lee, Jin Hee Han, Marge Carandang, Min Young Kim, Bonggi Kim, Nayoung Yi, Jinho Kim, Bong Jik Kim, Doo‐Yi Oh, Ja‐Won Koo, Jun Ho Lee, Seung‐Ha Oh, Byung Yoon Choi

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients

Akira Inaba, Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yasuhiko Hirami, Yasuo Kurimoto, Shinji Kosugi, Masayo Takahashi

International Journal of Molecular Sciences.2020; 21(21): 7817. CrossRef