Publications by authors named "Yong-yi Yuan"

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A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.
Li-Ting Peng, Wei-Qian Wang, Sha-Sha Huang, Min Liu, Su-Yan Yang, Yong-Yi Yuan

J Clin Lab Anal· December 2025

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A novel nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.
Ying Ma, Sha-Sha Huang, Ya-Hong Li, Shi-Han Sun, Jin-Yuan Yang, Yong-Yi Yuan

Acta Otolaryngol· December 2025

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Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.
Xue Gao, Ying Ma, Wei-Qian Wang, Guo-Jian Wang, Kun Yang, Yong-Yi Yuan

Hum Genet· October 2025

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Functional characterization of MFSD3 in auditory system and zebrafish embryogenesis.
Ying Ma, Shi-Wei Qiu, Wei-Qian Wang, Hai-Feng Feng, Lu Zheng, Jin-Yuan Yang, Yong-Yi Yuan

Front Genet· October 2025

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A cohort study of neonatal hearing testing and genetic screening for variants associated with susceptibility to aminoglycoside antibiotic-induced hearing loss in Beijing, China.
Hong Duan, Sha-Sha Huang, Feng-Jiao Zhu, Guo-Jian Wang, Xue Gao, Yong-Yi Yuan

Medicine (Baltimore)· June 2025

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Diurnal variations in corneal biomechanics in healthy young adults.
DaTian Zhu, LuMeng Wang, ZhanXin Qu, Pu Wang, YongYi Yuan

BMC Ophthalmol· February 2025

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Discovery of a Novel and Potent LCK Inhibitor for Leukemia Treatment via Deep Learning and Molecular Docking.
Hao Guo, Zhe-Yuan Shen, Yong-Yi Yuan, Rou-Fen Chen, Jing-Yi Yang

J Chem Inf Model· June 2024

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In Vivo Corneal Biomechanical Response to Three Different Laser Corneal Refractive Surgeries.
ZhanXin Qu, XiaoMeng Li, YongYi Yuan, Pu Wang, Ying Li

J Refract Surg· May 2024

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MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Yong-Yi Yuan

BMC Med Genomics· January 2024

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A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Kun Yang, Xi Wang, Wei-Qian Wang, Ming-Yu Han, Li-Min Hu, Jin-Yuan Yang, Yong-Yi Yuan

Mol Genet Genomic Med· March 2023

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Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yong-Yi Yuan

BMC Med Genomics· November 2022

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Genetic Analysis of the Gene in Chinese Patients With Non-Syndromic Hearing Loss.
Wei-Qian Wang, Xue Gao, Sha-Sha Huang, Dong-Yang Kang, Jin-Cao Xu, Yong-Yi Yuan

Front Genet· May 2022

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Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Xue Gao, Pu Dai, Yong-Yi Yuan

Hum Genet· April 2022

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Transcriptome analysis of the early stage ifnlr1-mutant zebrafish indicates the immune response to auditory dysfunction.
Wei-Qian Wang, Shi-Wei Qiu, Sha-Sha Huang, Guo-Jian Wang, Ming-Yu Han, Yong-Yi Yuan

Gene Expr Patterns· March 2022

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A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Rui Wang, Wei-Qian Wang, Xiao-Qin Li, Juan Zhao, Kun Yang, Yong-Yi Yuan

BMC Med Genomics· November 2021

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Correspondence on "DOORS syndrome and a recurrent truncating ATP6V1B2 variant" by Beauregard-Lacroix et al.
Xue Gao, Pu Dai, Yong-Yi Yuan

Genet Med· August 2021

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Congenital sensorineural hearing loss as the initial presentation of -associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
Xue Gao, Sha-Sha Huang, Shi-Wei Qiu, Yu Su, Wei-Qian Wang, Yong-Yi Yuan

J Med Genet· July 2021

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Four Novel Variants in Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Tian-Yi Cui, Xue Gao, Sha-Sha Huang, Yan-Yan Sun, Si-Qi Zhang, Yong-Yi Yuan

Neural Plast· June 2021

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Hearing Phenotypes of Patients with Hearing Loss Homozygous for the c.235delc Mutation.
Chang Guo, Sha-Sha Huang, Yong-Yi Yuan, Ying Zhou, Ning Wang

Neural Plast· June 2021

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Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene.
Xue Gao, Shi-Wei Qiu, Wei-Qian Wang, Dong-Yang Kang, Ning Su, Yong-Yi Yuan

Stem Cell Res· May 2021

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Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2.
Xue Gao, Shi-Wei Qiu, Meng-Long Feng, Sha-Sha Huang, Dong-Yang Kang, Yong-Yi Yuan

Stem Cell Res· October 2020

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Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Pu Dai, Li-Hui Huang, Guo-Jian Wang, Xue Gao, Chun-Yan Qu, Yong-Yi Yuan

Am J Hum Genet· October 2019

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Cochlear implantation in patients with canal wall down mastoidectomy cavities.
Song Gao, Yi Jiang, Guo-Jian Wang, Bei Cheng Li, Yong-Yi Yuan

Acta Otolaryngol· November 2018

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A Missense Mutation in Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
Xue Gao, Jin-Cao Xu, Wei-Qian Wang, Yong-Yi Yuan, Dan Bai

Biomed Res Int· October 2018

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Mutation of , an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
Xue Gao, Yong-Yi Yuan, Qiong-Fen Lin, Jin-Cao Xu, Wei-Qian Wang

J Med Genet· May 2018

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