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: 14017T>C; Tyr4673His

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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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: rs1040917329

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: USH2A: Y4673H

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 14017T>C; Y4673H

PubMed Link: 32893482

Variant Present in the following documents:

• Main text
• MGG3-8-e1479.pdf

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: Y4673H

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: USH2A: 14017T>C; Tyr4673His

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

European Journal Of Human Genetics : Ejhg

Yuan, Yongyi Y; Li, Qi Q; Su, Yu Y; Lin, Qiongfen Q; Gao, Xue X; Liu, Hankui H; Huang, Shasha S; Kang, Dongyang D; Todd, N Wendell NW; Mattox, Douglas D; Zhang, Jianguo J; Lin, Xi X; Dai, Pu P

Publication Date: 2020-02

Variant appearance in text: USH2A: Tyr4673His

PubMed Link: 31541171

Variant Present in the following documents:

• 41431_2019_510_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 14017T>C; Tyr4673His

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.

Scientific Reports

Ng, Tsz Kin TK; Tang, Wenyu W; Cao, Yingjie Y; Chen, Shaowan S; Zheng, Yuqian Y; Xiao, Xiaoqiang X; Chen, Haoyu H

Publication Date: 2019-04-04

Variant appearance in text: USH2: 14017T>C

PubMed Link: 30948794

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42105.pdf

View BVdb publication page

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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: Y4673H

PubMed Link: 29899460

Variant Present in the following documents:

• 41433_2018_130_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine

Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H

Publication Date: 2017-04-14

Variant appearance in text: USH2A: Y4673H

PubMed Link: 28408749

Variant Present in the following documents:

• emm20179x1.xlsx, sheet 4

View BVdb publication page

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The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

Human Mutation

Nishio, Shin-Ya SY; Usami, Shin-Ichi SI

Publication Date: 2017-03

Variant appearance in text: USH2A: 14017T>C; Y4673H

PubMed Link: 28008688

Variant Present in the following documents:

• HUMU-38-252-s001.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: USH2A: 14017T>C; Y4673H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: USH2A: 14017T>C; Y4673H

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 4

View BVdb publication page

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Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.

Orphanet Journal Of Rare Diseases

Park, Joo Hyun JH; Kim, Nayoung K D NK; Kim, Ah Reum AR; Rhee, Jihye J; Oh, Seung Ha SH; Koo, Ja-Won JW; Nam, Jae-Yong JY; Park, Woong-Yang WY; Choi, Byung Yoon BY

Publication Date: 2014-11-06

Variant appearance in text: USH2A: Y4673H

PubMed Link: 25373420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.

Korean Journal Of Audiology

Chang, Mun Young MY; Choi, Byung Yoon BY

Publication Date: 2014-09

Variant appearance in text: USH2A: Y4673H

PubMed Link: 25279224

Variant Present in the following documents:

• kja-18-45.pdf

View BVdb publication page

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Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Plos One

Miyagawa, Maiko M; Naito, Takehiko T; Nishio, Shin-ya SY; Kamatani, Naoyuki N; Usami, Shin-ichi S

Publication Date: 2013

Variant appearance in text: USH2A: 14017T>C; Y4673H

PubMed Link: 23967202

Variant Present in the following documents:

• pone.0071381.s004.pdf

View BVdb publication page

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