Yongyi Yuan

chinese pla general hospital

H指数:25

被引数:2,351

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Therapeutic potential of cAMP-mediated lysosomal pH modulation in ATP6V1B2-related neuropathology

cAMP介导的溶酶体pH调节在ATP6V1B2相关神经病理学中的治疗潜力

Cell Death Discovery

IF7

2026-03-270

OAAI

Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity

TMPRSS3基因的新型剪接位点变异通过外显子跳过和抑制蛋白酶活性损害听力

Frontiers in Genetics

IF2.8

2026-03-180

PRE

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

一种新型移码变异c.1023_1029del（p.Asp342ArgfsTer54）导致HOMER2中延伸的错误蛋白质C末端，从而引起常染色体显性非综合征性听力损失

JOURNAL OF CLINICAL LABORATORY ANALYSIS

IF2.9

2025-12-010

OAAI

A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss

一种新型的GRHL2无义变异通过增益效应机制导致常染色体显性遗传性听力损失。

ACTA OTO-LARYNGOLOGICA

IF1

2025-12-010

PRE

Functional characterization of MFSD3 in auditory system and zebrafish embryogenesis

MFSD3在听觉系统及斑马鱼胚胎发育中的功能鉴定

Frontiers in Genetics

IF2.8

2025-10-010

OAAI

Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects

隐性变异体通过线粒体DNA复制缺陷，导致TWNK基因相关的综合征性和非综合征性突触后听觉神经病变。

Human Genetics

IF3.6

2025-09-080

PRE

Immune-metabolic perspective on the association of seven psychiatric disorders and five common auditory diseases: a bidirectional two-sample Mendelian randomization study and mediation analysis

从免疫代谢角度探讨七种精神障碍与五种常见听觉疾病关联性的双向两样本孟德尔随机化研究与中介分析

Journal of Affective Disorders

IF4.9

2025-08-090

PRE

Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells

单次AAV-mAtp6v1b2基因治疗可挽救由毛细胞中Atp6v1b2诱导的溶酶体功能障碍引起的听力和前庭功能障碍。

ADVANCED SCIENCE

IF14.1

2025-03-111

OAAI

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population

中国人群X连锁遗传性听力损失的基因组和表型景观

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-09-130

OAAI

Characterization of SH3GLB1 in the auditory system and its potential role in mitophagy

GENES & DISEASES

IF9.4

2024-07-010

OAAI

Discovery of a Novel and Potent LCK Inhibitor for Leukemia Treatment via Deep Learning and Molecular Docking

JOURNAL OF CHEMICAL INFORMATION AND MODELING

IF5.3

2024-06-070

PRE

Mitochondrial tRNASer(UCN) mutations associated non-syndromic sensorineural hearing loss in Chinese families

HELIYON

IF3.6

2024-03-011

OAAI

Exploration of a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood Cells

CLINICAL CHEMISTRY

IF6.3

2023-11-152

Preimplantation genetic testing for hereditary hearing loss in Chinese population (Apr, 10.1007/s10815-023-02753-8, 2023)

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

IF2.7

2023-04-240

OAAI

Preimplantation genetic testing for hereditary hearing loss in Chinese population

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

IF2.7

2023-04-055

OAAI

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome

HUMAN GENETICS

IF3.6

2022-12-281

PRE

Correspondence on DOORS syndrome and a recurrent truncating ATP6V1B2 variant by Beauregard-Lacroix et al.

GENETICS IN MEDICINE

IF6.2

2021-08-012

OAAI

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes

HUMAN GENETICS

IF3.6

2021-07-076

PREAI

Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome

HUMAN GENETICS

IF3.6

2021-06-1718

PREAI

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing

BIOSCIENCE REPORTS

IF4.7

2021-06-109

OAAI

Yongyi Yuan

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