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: 11806A>C; Thr3936Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: USH2A: 11806A>C; Thr3936Pro

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s003.xlsx, sheet 1

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: T3936P

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental Abnormalities.

Frontiers In Cellular Neuroscience

Guo, Yonglong Y; Wang, Peiyuan P; Ma, Jacey Hongjie JH; Cui, Zekai Z; Yu, Quan Q; Liu, Shiwei S; Xue, Yunxia Y; Zhu, Deliang D; Cao, Jixing J; Li, Zhijie Z; Tang, Shibo S; Chen, Jiansu J

Publication Date: 2019

Variant appearance in text: USH2A: 11806A>C

PubMed Link: 31481876

Variant Present in the following documents:

• Main text
• fncel-13-00361.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: 11806A>C; Thr3936Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.

Oncotarget

Wang, Pu P; Fan, Xinmiao X; Wang, Yibei Y; Fan, Yue Y; Liu, Yaping Y; Zhang, Shuyang S; Chen, Xiaowei X

Publication Date: 2017-09-08

Variant appearance in text: USH2A: T3936P

PubMed Link: 28968992

Variant Present in the following documents:

• Main text
• oncotarget-08-63324.pdf

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Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Plos One

Wu, Hong H; Feng, Yong Y; Jiang, Lu L; Pan, Qian Q; Liu, Yalan Y; Liu, Chang C; He, Chufeng C; Chen, Hongsheng H; Liu, Xueming X; Hu, Chang C; Hu, Yiqiao Y; Mei, Lingyun L

Publication Date: 2016

Variant appearance in text: USH2A: Thr3936Pro

PubMed Link: 27018795

Variant Present in the following documents:

View BVdb publication page

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Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Molecular Vision

Liu, Xiaowen X; Tang, Zhaohui Z; Li, Chang C; Yang, Kangjuan K; Gan, Guanqi G; Zhang, Zibo Z; Liu, Jingyu J; Jiang, Fagang F; Wang, Qing Q; Liu, Mugen M

Publication Date: 2010-03-17

Variant appearance in text: USH2A: T3936P

PubMed Link: 20309401

Variant Present in the following documents:

• Main text

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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Molecular Vision

Dai, Hanjun H; Zhang, Xiaohui X; Zhao, Xin X; Deng, Ting T; Dong, Bing B; Wang, Jingzhao J; Li, Yang Y

Publication Date: 2008

Variant appearance in text: USH2A: 11806A>C

PubMed Link: 19023448

Variant Present in the following documents:

• Main text
• mv-v14-2067.pdf

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