Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: USH2A: 13465G>A; Gly4489Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.

Frontiers In Genetics

Li, Wei W; Jiang, Xiao-Sen XS; Han, Dong-Ming DM; Gao, Jia-Yu JY; Yang, Zheng-Tao ZT; Jiang, Li L; Zhang, Qian Q; Zhang, Sheng-Hai SH; Gao, Ya Y; Wu, Ji-Hong JH; Li, Jian-Kang JK

Publication Date: 2022

Variant appearance in text: USH2A: 13465G>A

PubMed Link: 36110214

Variant Present in the following documents:

• Main text
• fgene-13-900548.pdf

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Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Chen, Chong C; Sun, Qiao Q; Gu, Mingmin M; Qian, Tianwei T; Luo, Dawei D; Liu, Kun K; Xu, Xun X; Yu, Suqin S

Publication Date: 2020-11

Variant appearance in text: USH2A: 13465G>A; G4489S

PubMed Link: 32893482

Variant Present in the following documents:

• Main text
• MGG3-8-e1479.pdf

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Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Molecular Medicine Reports

Zhu, Xiong X; Li, Xiao X; Tian, Wanli W; Yang, Yeming Y; Sun, Kuanxiang K; Li, Shuzhen S; Zhu, Xianjun X

Publication Date: 2020-07

Variant appearance in text: USH2A: G4489S

PubMed Link: 32319668

Variant Present in the following documents:

• Main text
• mmr-22-01-0193.pdf

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Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.

The British Journal Of Ophthalmology

Gao, Feng-Juan FJ; Wang, Dan-Dan DD; Chen, Fang F; Sun, Hao-Xiang HX; Hu, Fang-Yuan FY; Xu, Ping P; Li, Jiankang J; Liu, Wei W; Qi, Yu-He YH; Li, Wei W; Wang, Ming M; Zhang, Shenghai S; Xu, Ge-Zhi GZ; Chang, Qing Q; Wu, Ji-Hong JH

Publication Date: 2021-01

Variant appearance in text: USH2: 13465G>A

PubMed Link: 32188678

Variant Present in the following documents:

• Main text

View BVdb publication page

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Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Dan, Handong H; Huang, Xin X; Xing, Yiqiao Y; Shen, Yin Y

Publication Date: 2020-03

Variant appearance in text: USH2A: 13465G>A; Gly4489Ser

PubMed Link: 31960602

Variant Present in the following documents:

• Main text
• MGG3-8-e1131.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: USH2A: 13465G>A; Gly4489Ser

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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