Publications:

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: 13939G>C; Gly4647Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: rs144524302

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Sun, Yan Y; Li, Wei W; Li, Jian-Kang JK; Wang, Zhuo-Shi ZS; Bai, Jin-Yue JY; Xu, Ling L; Xing, Bo B; Yang, Wen W; Wang, Zi-Wei ZW; Wang, Lu-Sheng LS; He, Wei W; Chen, Fang F

Publication Date: 2020-04

Variant appearance in text: USH2A: 13939G>C; Gly4647Arg

PubMed Link: 32100970

Variant Present in the following documents:

• Main text
• MGG3-8-e1184.pdf

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Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.

Eye (London, England)

Huang, Lulin L; Mao, Yao Y; Yang, Jiyun J; Li, Yuanfeng Y; Li, Yang Y; Yang, Zhenglin Z

Publication Date: 2018-10

Variant appearance in text: USH2A: G4647R; rs144524302

PubMed Link: 29899460

Variant Present in the following documents:

• 41433_2018_130_MOESM1_ESM.xlsx, sheet 1

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The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Bmc Genomics

Yoon, Chang-Ki CK; Kim, Nayoung K D NK; Joung, Je-Gun JG; Shin, Joo Young JY; Park, Jung Hyun JH; Eum, Hye-Hyun HH; Lee, Hae-Ock HO; Park, Woong-Yang WY; Yu, Hyeong Gon HG

Publication Date: 2015-07-09

Variant appearance in text: USH2A: G4647R

PubMed Link: 26155838

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1723.pdf

View BVdb publication page