Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation
Sang-Yeon Lee, Kwangsic Joo, Jayoung Oh, Jin Hee Han, Hye-Rim Park, Seungmin Lee, Doo-Yi Oh, Se Joon Woo, Byung Yoon Choi
Clin Exp Otorhinolaryngol. 2020;13(2):113-122.   Published online 2019 Nov 2     DOI: https://doi.org/10.21053/ceo.2019.00990
Citations to this article as recorded by Crossref logo
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
Ear & Hearing.2022; 43(1): 1.     CrossRef
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
Ophthalmic Genetics.2022; 43(4): 470.     CrossRef
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
PLOS ONE.2022; 17(6): e0267898.     CrossRef
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
Ear & Hearing.2022; 43(6): 1698.     CrossRef
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
Scientific Reports.2022;[Epub]     CrossRef
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
Scientific Reports.2022;[Epub]     CrossRef
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
Genes.2022; 13(8): 1423.     CrossRef
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
Biomedicines.2022; 10(9): 2125.     CrossRef
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
Ear & Hearing.2021; 42(2): 323.     CrossRef
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
Ear & Hearing.2021; 42(3): 644.     CrossRef
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
Scientific Reports.2020;[Epub]     CrossRef
The Era of Precision Medicine: Reshaping Usher Syndrome
Jinsei Jung
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
Diagnostics.2020; 10(5): 296.     CrossRef
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
Maria Toms, Waheeda Pagarkar, Mariya Moosajee
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
Human Mutation.2020; 41(11): 1877.     CrossRef
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